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Essential role of the N-terminal region of TFII-I in viability and behavior.BACKGROUND: GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental anomalies of the... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Essential role of the N-terminal region of TFII-I in viability and behavior.BACKGROUND: GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developmental anomalies of the... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Pulmonary function and emphysema in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is caused by a submicroscopic deletion on chromosome 7q11.23 that encompasses the entire elastin (ELN) gene. Elastin, a key component of elastic fibers within the lung, is progressively destroyed in emphysema. Defects... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Pulmonary function and emphysema in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is caused by a submicroscopic deletion on chromosome 7q11.23 that encompasses the entire elastin (ELN) gene. Elastin, a key component of elastic fibers within the lung, is progressively destroyed in emphysema. Defects... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurodevelopmental disorder presenting with an elfin-like face, supravalvular aortic stenosis, a specific cognitive-behavioral profile, and infantile hypercalcemia. We encountered tw... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurodevelopmental disorder presenting with an elfin-like face, supravalvular aortic stenosis, a specific cognitive-behavioral profile, and infantile hypercalcemia. We encountered tw... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.The GTF2IRD1 gene is of principal interest to the study of Williams-Beuren syndrome (<TGT>WBS</TGT>). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 ge... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.The GTF2IRD1 gene is of principal interest to the study of Williams-Beuren syndrome (<TGT>WBS</TGT>). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 ge... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.Williams-Beuren syndrome (<TGT>WBS</TGT>), an autosomal dominant genetic disorder, is characterized by a unique cognitive profile and craniofacial defects. WBS results from a microdeletion at the chromosomal location 7q11.... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.Williams-Beuren syndrome (<TGT>WBS</TGT>), an autosomal dominant genetic disorder, is characterized by a unique cognitive profile and craniofacial defects. WBS results from a microdeletion at the chromosomal location 7q11.... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome.BACKGROUND: Hypertension is a common finding in children with Williams-Beuren syndrome (<TGT>WBS</TGT>). METHODS: The aim of this retrospective study was to review the clinical presentation of systemic hypertension in WB... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome.BACKGROUND: Hypertension is a common finding in children with Williams-Beuren syndrome (<TGT>WBS</TGT>). METHODS: The aim of this retrospective study was to review the clinical presentation of systemic hypertension in WB... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Speech fluency profile in Williams-Beuren syndrome: a preliminary study.BACKGROUND: the speech fluency pattern attributed to individuals with Williams-Beuren syndrome (<TGT>WBS</TGT>) is supported by the effectiveness of the phonological loop. Some studies have reported the occurrence of speech disruptions caused by le... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Speech fluency profile in Williams-Beuren syndrome: a preliminary study.BACKGROUND: the speech fluency pattern attributed to individuals with Williams-Beuren syndrome (<TGT>WBS</TGT>) is supported by the effectiveness of the phonological loop. Some studies have reported the occurrence of speech disruptions caused by le... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Williams-Beuren syndrome (<TGT>WBS</TGT>; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be re... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Williams-Beuren syndrome (<TGT>WBS</TGT>; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be re... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development.GTF2I and GTF2IRD1 encoding the multifunctional transcription factors TFII-I and BEN are clustered at the 7q11.23 region hemizygously deleted in Williams-Beuren syndrome (<TGT>WBS</TGT>), a complex multisystemic neurode... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development.GTF2I and GTF2IRD1 encoding the multifunctional transcription factors TFII-I and BEN are clustered at the 7q11.23 region hemizygously deleted in Williams-Beuren syndrome (<TGT>WBS</TGT>), a complex multisystemic neurode... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
[Williams-Beuren syndrome: a multidisciplinary approach]Williams-Beuren syndrome (<TGT>WBS</TGT>) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extr... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
[Williams-Beuren syndrome: a multidisciplinary approach]Williams-Beuren syndrome (<TGT>WBS</TGT>) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extr... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome.In the Williams-Beuren syndrome (<TGT>WBS</TGT>), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. However, the frequency of biochemical thyroid assessme... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome.In the Williams-Beuren syndrome (<TGT>WBS</TGT>), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. However, the frequency of biochemical thyroid assessme... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Periodontal conditions in Williams Beuren syndrome: a series of 8 cases.BACKGROUND: Williams Beuren syndrome (<TGT>WBS</TGT>) is an unusual hereditary connective tissue disease caused by a microdeletion at position 7q11-23 and a haploinsufficiency at the elastin gene. The most frequent specific features are elf-like fa... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Periodontal conditions in Williams Beuren syndrome: a series of 8 cases.BACKGROUND: Williams Beuren syndrome (<TGT>WBS</TGT>) is an unusual hereditary connective tissue disease caused by a microdeletion at position 7q11-23 and a haploinsufficiency at the elastin gene. The most frequent specific features are elf-like fa... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.Williams-Beuren syndrome (<TGT>WBS</TGT>) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.Williams-Beuren syndrome (<TGT>WBS</TGT>) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mappi... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mappi... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.Williams-Beuren syndrome (<TGT>WBS</TGT>), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically ... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.Williams-Beuren syndrome (<TGT>WBS</TGT>), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically ... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders.Studies of age-related features of cognitive-behavioral deficits produced by genetic mutations permit us to draw inferences about how brain development may be related cognitive ability as the child ... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders.Studies of age-related features of cognitive-behavioral deficits produced by genetic mutations permit us to draw inferences about how brain development may be related cognitive ability as the child ... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Orthodontic orthognathic surgical treatment of a subject with Williams Beuren syndrome a follow-up from 8 to 25 years of age.This article presents a survey of characteristic features of Williams-Beuren syndrome (<TGT>WBS</TGT>) as reported in the literature and the interdisciplinary treatment of a subject with WBS with... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Orthodontic orthognathic surgical treatment of a subject with Williams Beuren syndrome a follow-up from 8 to 25 years of age.This article presents a survey of characteristic features of Williams-Beuren syndrome (<TGT>WBS</TGT>) as reported in the literature and the interdisciplinary treatment of a subject with WBS with... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up.Williams-Beuren syndrome (<TGT>WBS</TGT>) is characterized by several diagnostic features, including oligodontia. Restoration of congenitally missing teeth in patients with WBS is a challenge, both emotionally and clinically. In the... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up.Williams-Beuren syndrome (<TGT>WBS</TGT>) is characterized by several diagnostic features, including oligodontia. Restoration of congenitally missing teeth in patients with WBS is a challenge, both emotionally and clinically. In the... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a multi-system disorder that requires ongoing management by a primary care physician familiar with the natural history and common medical problems associated with the condition. Some abnorma... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a multi-system disorder that requires ongoing management by a primary care physician familiar with the natural history and common medical problems associated with the condition. Some abnorma... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.The Williams-Beuren syndrome (<TGT>WBS</TGT>) locus on human chromosome 7q11.23 is flanked by complex chromosome-specific low-copy repeats that mediate recurrent genomic rearrangements of the regio... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.The Williams-Beuren syndrome (<TGT>WBS</TGT>) locus on human chromosome 7q11.23 is flanked by complex chromosome-specific low-copy repeats that mediate recurrent genomic rearrangements of the regio... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort.AIMS: To define the cardiovascular anomalies and the long-term outcomes in an Asian cohort with Williams-Beuren syndrome (<TGT>WBS</TGT>). METHODS: Data were retrieved from a retrospective chart review of patients who had a definiti... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort.AIMS: To define the cardiovascular anomalies and the long-term outcomes in an Asian cohort with Williams-Beuren syndrome (<TGT>WBS</TGT>). METHODS: Data were retrieved from a retrospective chart review of patients who had a definiti... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
[Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder]BACKGROUND: genetic, cognitive and language aspects of the Williams-Beuren Syndorme (<TGT>WBS</TGT>). AIM: to present a review of the literature about WBS, highlighting its genetic, cognitive and language characteristics. CONCLUSION... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
[Genetics and language in Williams-Beuren Syndrome: a distinct neurobehavioral disorder]BACKGROUND: genetic, cognitive and language aspects of the Williams-Beuren Syndorme (<TGT>WBS</TGT>). AIM: to present a review of the literature about WBS, highlighting its genetic, cognitive and language characteristics. CONCLUSION... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a rare genetic disorder (1/20,000-50,000) and is usually caused by a 1.5- to 1.8-Mb heterozygous deletion on chromosome 7q11.23. At least 25 genes have been identified in the deletion r... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a rare genetic disorder (1/20,000-50,000) and is usually caused by a 1.5- to 1.8-Mb heterozygous deletion on chromosome 7q11.23. At least 25 genes have been identified in the deletion r... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Visual search deficits in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a rare genetic condition characterized by several physical and mental traits, such as a poor visuo-spatial processing and a relative strength in language. In this study we investigated how WBS subjects search and scan their ... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Visual search deficits in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a rare genetic condition characterized by several physical and mental traits, such as a poor visuo-spatial processing and a relative strength in language. In this study we investigated how WBS subjects search and scan their ... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.BACKGROUND: During a genetic study of autism, a female child who met diagnostic criteria for autism spectrum disorder, but also exhibited the cognitive-behavioural profile (CBP) as... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.BACKGROUND: During a genetic study of autism, a female child who met diagnostic criteria for autism spectrum disorder, but also exhibited the cognitive-behavioural profile (CBP) as... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.Williams-Beuren syndrome (<TGT>WBS</TGT>) is most commonly caused by a 1.5-Mb hemizygous deletion of chromosome 7q 11.23. Other genomic rearrangements of this region have also been described, some as polymorphisms and others as rare variants, t... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.Williams-Beuren syndrome (<TGT>WBS</TGT>) is most commonly caused by a 1.5-Mb hemizygous deletion of chromosome 7q 11.23. Other genomic rearrangements of this region have also been described, some as polymorphisms and others as rare variants, t... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Laterality in persons with intellectual disability II. Hand, foot, ear, and eye laterality in persons with Trisomy 21 and Williams-Beuren syndrome.Laterality (hand, foot, ear, and eye) was assessed in participants with Trisomy 21 (62) and Williams-Beuren syndrome (<TGT>WBS</TGT>) (39). Handedness was also assessed in a... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Laterality in persons with intellectual disability II. Hand, foot, ear, and eye laterality in persons with Trisomy 21 and Williams-Beuren syndrome.Laterality (hand, foot, ear, and eye) was assessed in participants with Trisomy 21 (62) and Williams-Beuren syndrome (<TGT>WBS</TGT>) (39). Handedness was also assessed in a... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Laterality in persons with intellectual disability. I--do patients with trisomy 21 and Williams-Beuren syndrome differ from typically developing persons?Persons with trisomy 21 (T21) and Williams-Beuren syndrome (<TGT>WBS</TGT>) have different brain abnormalities which may affect manual laterality. We assessed 45 perso... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Laterality in persons with intellectual disability. I--do patients with trisomy 21 and Williams-Beuren syndrome differ from typically developing persons?Persons with trisomy 21 (T21) and Williams-Beuren syndrome (<TGT>WBS</TGT>) have different brain abnormalities which may affect manual laterality. We assessed 45 perso... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Saccade adaptation in Williams-Beuren Syndrome.PURPOSE: To investigate the capacity for rapid saccade adaptation in Williams-Beuren Syndrome (<TGT>WBS</TGT>), a genetic neurodevelopmental disorder, in which it has been observed that saccadic accuracy is severely reduced. METHODS: Saccade amplitude modification was elic... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Saccade adaptation in Williams-Beuren Syndrome.PURPOSE: To investigate the capacity for rapid saccade adaptation in Williams-Beuren Syndrome (<TGT>WBS</TGT>), a genetic neurodevelopmental disorder, in which it has been observed that saccadic accuracy is severely reduced. METHODS: Saccade amplitude modification was elic... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Williams-Beuren syndrome (<TGT>WBS</TGT>), caused by a heterozygous deletion at 7q11.23, represents a model for studying hypertension, the leading risk factor for mortality worldwide, in a genetically determined... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.Williams-Beuren syndrome (<TGT>WBS</TGT>), caused by a heterozygous deletion at 7q11.23, represents a model for studying hypertension, the leading risk factor for mortality worldwide, in a genetically determined... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Voiding dysfunction and the Williams-Beuren syndrome: a clinical and urodynamic investigation.PURPOSE: <TGT>WBS</TGT> is an autosomal dominant disorder that includes features such as developmental delay, cardiovascular anomalies, mental retardation and characteristic facial appearance. We systematically investigated th... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Voiding dysfunction and the Williams-Beuren syndrome: a clinical and urodynamic investigation.PURPOSE: <TGT>WBS</TGT> is an autosomal dominant disorder that includes features such as developmental delay, cardiovascular anomalies, mental retardation and characteristic facial appearance. We systematically investigated th... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
GTF2IRD1 in craniofacial development of humans and mice.Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and c... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
GTF2IRD1 in craniofacial development of humans and mice.Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and c... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome.Handedness and eye sighting dominance were assessed in a sample of 50 individuals (25 male, 25 female; aged 5-38 years) with Williams-Beuren syndrome (<TGT>WBS</TGT>). The prevalences of left-handedness... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome.Handedness and eye sighting dominance were assessed in a sample of 50 individuals (25 male, 25 female; aged 5-38 years) with Williams-Beuren syndrome (<TGT>WBS</TGT>). The prevalences of left-handedness... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.About 5% of the human genome consists of segmental duplications or low-copy repeats, which are large, highly homologous (>95%) fragments of sequence. It has been estimated that these segmental du... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.About 5% of the human genome consists of segmental duplications or low-copy repeats, which are large, highly homologous (>95%) fragments of sequence. It has been estimated that these segmental du... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Neural correlates of genetically abnormal social cognition in Williams syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>), caused by a microdeletion of approximately 21 genes on chromosome 7q11.23, is characterized by unique hypersociability combined with increased non-social anxiety. Using functional neuroimaging, we ... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Neural correlates of genetically abnormal social cognition in Williams syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>), caused by a microdeletion of approximately 21 genes on chromosome 7q11.23, is characterized by unique hypersociability combined with increased non-social anxiety. Using functional neuroimaging, we ... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.OBJECTIVE: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (<TGT>WBS</TGT>). METHODS: The first proposed method, na... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.OBJECTIVE: To develop and compare two new technologies for diagnosing a contiguous gene syndrome, the Williams-Beuren syndrome (<TGT>WBS</TGT>). METHODS: The first proposed method, na... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Visual depth processing in Williams-Beuren syndrome.Patients with Williams-Beuren Syndrome (<TGT>WBS</TGT>, also known as Williams Syndrome) show many problems in motor activities requiring visuo-motor integration, such as walking stairs. We tested to what extent these problems might be related to a deficit in the perc... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Visual depth processing in Williams-Beuren syndrome.Patients with Williams-Beuren Syndrome (<TGT>WBS</TGT>, also known as Williams Syndrome) show many problems in motor activities requiring visuo-motor integration, such as walking stairs. We tested to what extent these problems might be related to a deficit in the perc... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.The Williams-Beuren syndrome (<TGT>WBS</TGT>) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has bee... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.The Williams-Beuren syndrome (<TGT>WBS</TGT>) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has bee... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome.Supravalvular aortic stenosis (SVAS) and Williams Beuren syndrome (<TGT>WBS</TGT>) can be considered as inherited diseases affecting the whole arterial tree and causing narrowing of the vessels. It has been reported tha... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome.Supravalvular aortic stenosis (SVAS) and Williams Beuren syndrome (<TGT>WBS</TGT>) can be considered as inherited diseases affecting the whole arterial tree and causing narrowing of the vessels. It has been reported tha... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurodevelopmental microdeletion disorder that usually occurs sporadically due to its location within a highly repetitive genomic region that is unstable and pr... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurodevelopmental microdeletion disorder that usually occurs sporadically due to its location within a highly repetitive genomic region that is unstable and pr... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy.Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (<TGT>WBS</TGT>). However, growth hormone deficiency (GHD) has not been consider... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy.Pre- and postnatal growth retardation of unknown pathogenesis is a common clinical feature in patients with Williams-Beuren syndrome (<TGT>WBS</TGT>). However, growth hormone deficiency (GHD) has not been consider... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Frizzled 9 knock-out mice have abnormal B-cell development.The binding of frizzled (Fzd) receptors by their Wnt ligands results in the inhibition of beta-catenin degradation and subsequent transcription of beta-catenin/LEF-inducible genes. The beta-catenin pathway is known to be involved in development, tumorigenesis, ... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Frizzled 9 knock-out mice have abnormal B-cell development.The binding of frizzled (Fzd) receptors by their Wnt ligands results in the inhibition of beta-catenin degradation and subsequent transcription of beta-catenin/LEF-inducible genes. The beta-catenin pathway is known to be involved in development, tumorigenesis, ... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurological disorder resulting from a microdeletion, typically 1.5 megabases in size, at 7q11.23. Atypical patients implicate genes at the telomeric end of this multigene deletion as the main can... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a neurological disorder resulting from a microdeletion, typically 1.5 megabases in size, at 7q11.23. Atypical patients implicate genes at the telomeric end of this multigene deletion as the main can... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate).AIM: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (<TGT>WBS</TGT>). RESULTS: We report a 14-mo-old male infant presenting hype... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate).AIM: To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (<TGT>WBS</TGT>). RESULTS: We report a 14-mo-old male infant presenting hype... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Exploring Williams-Beuren syndrome using myGrid.MOTIVATION: In silico experiments necessitate the virtual organization of people, data, tools and machines. The scientific process also necessitates an awareness of the experience base, both of personal data as well as the wider context of work. The management of all thes... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Exploring Williams-Beuren syndrome using myGrid.MOTIVATION: In silico experiments necessitate the virtual organization of people, data, tools and machines. The scientific process also necessitates an awareness of the experience base, both of personal data as well as the wider context of work. The management of all thes... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
[Williams-Beuren syndrome: presentation of 82 cases]OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (<TGT>WBS</TGT>) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retarda... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
[Williams-Beuren syndrome: presentation of 82 cases]OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (<TGT>WBS</TGT>) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retarda... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.The Williams-Beuren syndrome (<TGT>WBS</TGT>) is a contiguous gene syndrome caused by chromosomal rearrangements at chromosome band 7q11.23. Several endocrine phenotypes, in... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.The Williams-Beuren syndrome (<TGT>WBS</TGT>) is a contiguous gene syndrome caused by chromosomal rearrangements at chromosome band 7q11.23. Several endocrine phenotypes, in... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
Risk of sudden death in the Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a genetic disorder characterized by a distinctive facial gestalt, mental retardation, mild growth deficiency, and cardiovascular disease. The occurrence of sudden death in the WBS is known from several case reports, but in... | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects ... | 1 | C0175702 | WBS |
Risk of sudden death in the Williams-Beuren syndrome.Williams-Beuren syndrome (<TGT>WBS</TGT>) is a genetic disorder characterized by a distinctive facial gestalt, mental retardation, mild growth deficiency, and cardiovascular disease. The occurrence of sudden death in the WBS is known from several case reports, but in... | A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities. | 0 | C0004903 | WBS |
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