Williams-Beuren syndrome

Duba HC et al. (2002) The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

Faury G et al. (2003) Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.

Ewart AK et al. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Pérez Jurado LA et al. (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

Li DY et al. (1998) Novel arterial pathology in mice and humans hemizygous for elastin.

Meng X et al. (1998) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.

Marshall CR et al. (2008) Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Kaminsky EB et al. (2011) An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kara-Mostefa A et al. (1999) Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.

Broder K et al. (1999) Elevated ambulatory blood pressure in 20 subjects with Williams syndrome.

None (1999) Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.

Wang MS et al. (1999) Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

Mervis CB et al. (1999) Visuospatial construction.

Dridi SM et al. (1999) Skin elastic fibers in Williams syndrome.

Wu YQ et al. (1999) A case of Williams syndrome with a large, visible cytogenetic deletion.

Botta A et al. (1999) Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

Valero MC et al. (2000) Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

Pankau R et al. (2001) Familial Williams-Beuren syndrome showing varying clinical expression.

Schmitt JE et al. (2001) Analysis of cerebral shape in Williams syndrome.

None (2001) American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

Jones KL et al. (1975) The Williams elfin facies syndrome. A new perspective.

Osborne LR et al. (2001) A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Giannotti A et al. (2001) Coeliac disease in Williams syndrome.

Galaburda AM et al. (2001) Dorsal forebrain anomaly in Williams syndrome.

Sadler LS et al. (2001) Differences by sex in cardiovascular disease in Williams syndrome.

Rose C et al. (2001) Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension.

None (1975) Letter: More on the prophylactic dose of fluoride.

Strømme P et al. (2002) Prevalence estimation of Williams syndrome.

Eronen M et al. (2002) Cardiovascular manifestations in 75 patients with Williams syndrome.

Partsch CJ et al. (2002) Central precocious puberty in girls with Williams syndrome.

Vaux KK et al. (2003) Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.

Bayés M et al. (2003) Mutational mechanisms of Williams-Beuren syndrome deletions.

None (2003) Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

FANCONI G et al. (1952) [Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations].

Kruse K et al. (1992) Calcium metabolism in Williams-Beuren syndrome.

SISSMAN NJ et al. (1959) Congenital aortic stenosis.

BEUREN AJ et al. (1962) Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

WILLIAMS JC et al. (1961) Supravalvular aortic stenosis.

None (1963) MATERNAL RUBELLA AND PULMONARY ARTERY STENOSES. REPORT OF ELEVEN CASES.

BLACK JA et al. (1963) ASSOCIATION BETWEEN AORTIC STENOSIS AND FACIES OF SEVERE INFANTILE HYPERCALCAEMIA.

GARCIA RE et al. (1964) IDIOPATHIC HYPERCALCEMIA AND SUPRAVALVULAR AORTIC STENOSIS. DOCUMENTATION OF A NEW SYNDROME.

Pankau R et al. (1992) Statural growth in Williams-Beuren syndrome.

None (2003) Decreased elastin in vessel walls puts the pressure on.

Morimoto M et al. (2003) Infantile spasms in a patient with williams syndrome and craniosynostosis.

Lopez-Rangel E et al. (1992) Williams syndrome in adults.

Mobbs D et al. (2004) Anomalous brain activation during face and gaze processing in Williams syndrome.

Meyer-Lindenberg A et al. (2004) Neural basis of genetically determined visuospatial construction deficit in Williams syndrome.

Colley A et al. (1992) Unbalanced 13;18 translocation and Williams syndrome.

Cherniske EM et al. (2004) Multisystem study of 20 older adults with Williams syndrome.

Metcalfe K et al. (2005) Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Tupler R et al. (1992) A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

Scherer SW et al. (2005) Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.

Meyer-Lindenberg A et al. (2005) Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome.

Stagi S et al. (2005) Thyroid function and morphology in patients affected by Williams syndrome.

Marler JA et al. (2005) Sensorineural hearing loss in children and adults with Williams syndrome.

Somerville MJ et al. (2005) Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Tassabehji M et al. (2005) GTF2IRD1 in craniofacial development of humans and mice.

Gothelf D et al. (2006) Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities.

Del Campo M et al. (2006) Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

Selicorni A et al. (2006) Thyroid anomalies in Williams syndrome: investigation of 95 patients.

Merla G et al. (2006) Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Edelmann L et al. (2007) An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Hinek A et al. (1991) Inhibition of tropoelastin expression by 1,25-dihydroxyvitamin D3.

Marenco S et al. (2007) Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.

Castelo-Branco M et al. (2007) Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.

Järvinen-Pasley A et al. (2008) Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.

Russo AF et al. (1991) Characterization of the calcitonin/CGRP gene in Williams syndrome.

Voit T et al. (1991) Myopathy in Williams-Beuren syndrome.

Dai L et al. (2009) Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.

Collette JC et al. (2009) William's syndrome: gene expression is related to parental origin and regional coordinate control.

Ferrero GB et al. (2010) An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

None (2010) Williams-Beuren syndrome.

Game X et al. (2010) Williams-Beuren syndrome.

None (1990) Williams syndrome: an historical perspective of its evolution, natural history, and etiology.

Holmström G et al. (1990) The iris in Williams syndrome.

Hotta Y et al. () Ocular findings of Williams' syndrome.

Mervis CB et al. (2012) Duplication of GTF2I results in separation anxiety in mice and humans.

Vandeweyer G et al. (2012) The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Morris CA et al. (1988) Natural history of Williams syndrome: physical characteristics.

Hitman GA et al. (1989) The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome.

Bzdúch V et al. (1989) Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome.

Chan GM et al. (1979) Effect of vitamin D on pregnant rabbits and their offspring.

Biesecker LG et al. (1987) Renal insufficiency in Williams syndrome.

Hallidie-Smith KA et al. (1988) Cardiac anomalies in Williams-Beuren syndrome.

Knudtzon J et al. (1987) Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome.

None (1986) Williams syndrome.

Maisuls H et al. (1987) Cardiovascular findings in the Williams-Beuren syndrome.

Kaplan LC et al. (1987) Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

Jefferson RD et al. (1986) A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Garabédian M et al. (1985) Elevated plasma 1,25-dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies.

None (1985) Screening for HTLV-III antibody.

Reiss AL et al. (1985) Autism associated with Williams syndrome.

Ino T et al. (1985) Progressive vascular lesions in Williams syndrome.

Vijayakumar ST et al. (1974) Hypervitaminosis D and glycosaminoglycan metabolism in rats fed normal and high fat cholesterol diets.

Varghese PJ et al. (1969) Supravalvular aortic stenosis as part of rubella syndrome, with discussion of pathogenesis.

Friedman WF et al. (1966) Vitamin D and the supravalvar aortic stenosis syndrome. The transplacental effects of vitamin D on the aorta of the rabbit.

Wesselhoeft H et al. (1980) [The spectrum of supravalvular aortic stenosis: clinical findings of 150 patients with Williams-Beuren syndrome and the isolated lesion (author's transl)].

Martin ND et al. (1984) Idiopathic infantile hypercalcaemia--a continuing enigma.

None (1984) The Williams syndrome: objective definition and diagnosis.

None (1984) Differential diagnosis of the Williams and the Noonan syndromes.

Taylor AB et al. (1982) Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome.

Cortada X et al. (1980) Familial Williams syndrome.

Feigl A et al. (1980) Supravalvular aortic and peripheral pulmonary arterial stenoses. A report of eight cases in two generations.

Vogt J et al. (1980) [Qualitative and quantitative investigations in supravalvular aortic stenosis by cross-sectional echocardiography (author's transl)].

Grimm T et al. (1980) [The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)].

Gosch A et al. (1994) Linguistic abilities in children with Williams-Beuren syndrome.

Mari A et al. (1995) Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.

Hickok G et al. (1995) Asymmetrical ability.

Lowery MC et al. (1995) Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Nickerson E et al. (1995) Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

Kaplan P et al. (1995) Cerebral artery stenoses in Williams syndrome cause strokes in childhood.

Wessel A et al. (1994) Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome.

Plissart L et al. (1994) Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects.

Schlaug G et al. (1995) In vivo evidence of structural brain asymmetry in musicians.

Gilbert-Dussardier B et al. (1995) A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Gosch A et al. (1994) Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome.

Sadler LS et al. (1993) The Williams syndrome: evidence for possible autosomal dominant inheritance.

Pankau R et al. (1993) Williams-Beuren syndrome in monozygotic twins with variable expression.

Morris CA et al. (1993) Williams syndrome: autosomal dominant inheritance.

Narin N et al. (1993) Williams syndrome and subaortic stenosis.

Stewart FJ et al. (1993) Bilateral vocal cord paralysis in Williams syndrome.

Pankau R et al. (1993) Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation.

Pober BR et al. (1993) Renal findings in 40 individuals with Williams syndrome.

Borg I et al. (1995) Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.

Wollack JB et al. (1996) Stroke in Williams syndrome.

Peoples R et al. (1996) The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

Brewer CM et al. (1996) Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

Tassabehji M et al. (1996) LIM-kinase deleted in Williams syndrome.

Frangiskakis JM et al. (1996) LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

Winter M et al. (1996) The spectrum of ocular features in the Williams-Beuren syndrome.

Gosch A et al. (1996) Longitudinal study of the cognitive development in children with Williams-Beuren syndrome.

Urbán Z et al. (1996) 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

Osborne LR et al. (1996) Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

None (1996) [Bilateral vocal cord paralysis in children].

None (1996) Human genetics: dissecting Williams syndrome.

Dutly F et al. (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.

Scothorn DJ et al. (1997) How common is precocious puberty in patients with Williams syndrome?

Castorina P et al. (1997) Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.

White RA et al. (1977) Familial occurrence of the Williams syndrome.

Lenhoff HM et al. (1997) Williams syndrome and the brain.

Baumer A et al. (1998) High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

Wu YQ et al. (1998) Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Rae C et al. (1998) Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition?

del Rio T et al. (1998) A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome.

Ounap K et al. (1998) Familial Williams-Beuren syndrome.

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