Chromosome abnormalities and Williams-Beuren syndrome.

The Williams syndrome: objective definition and diagnosis. Clin Genet (1984) 1.60

Familial Williams syndrome. Clin Genet (1980) 1.17

Differential diagnosis of the Williams and the Noonan syndromes. Clin Genet (1984) 1.13

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome. J Med Genet (1992) 0.91

Quality of life in children and adolescents: a European public health perspective. Soz Praventivmed (2001) 1.49

Calcium metabolism in Williams-Beuren syndrome. J Pediatr (1992) 1.41

Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. Am J Med Genet (1993) 1.39

The use of focus groups in the development of the KIDSCREEN HRQL questionnaire. Qual Life Res (2006) 1.31

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet (1994) 1.20

Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Dev Med Child Neurol (1997) 1.13

Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome. Am J Med Genet (1994) 1.07

Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension. Eur J Pediatr (2001) 0.93

[Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome]. Z Kardiol (1997) 0.91

Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J Pediatr (1999) 0.90

Statural growth in Williams-Beuren syndrome. Eur J Pediatr (1992) 0.90

Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet (1996) 0.89

Pediatric reference values of estradiol, testosterone, lutropin, follitropin and prolactin. Clin Lab (2000) 0.89

Familial Williams-Beuren syndrome showing varying clinical expression. Am J Med Genet (2001) 0.89

Linguistic abilities in children with Williams-Beuren syndrome. Am J Med Genet (1994) 0.86

Williams-Beuren syndrome in monozygotic twins with variable expression. Am J Med Genet (1993) 0.86

Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines. Eur J Pediatr (1994) 0.81

Longitudinal study of the cognitive development in children with Williams-Beuren syndrome. Am J Med Genet (1996) 0.81

The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet (1996) 0.80

Williams-Beuren syndrome and celiac disease. J Pediatr Gastroenterol Nutr (1996) 0.80

Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. Am J Med Genet A (2005) 0.80

[Williams-Beuren syndrome in combination with celiac disease]. Monatsschr Kinderheilkd (1993) 0.79

Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res (2000) 0.79

Head circumference of children with Williams-Beuren syndrome. Am J Med Genet (1994) 0.78

"Autistic" behavior in two children with Williams-Beuren syndrome. Am J Med Genet (1994) 0.78

Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism. Hum Genet (1993) 0.78

Natural history of body mass index in Williams-Beuren syndrome. Am J Med Genet (1994) 0.78

Diaphragmatic defect in Brachmann-de Lange syndrome: a further observation. Am J Med Genet (1993) 0.77

Hormonal regulation in children and adults with Williams-Beuren syndrome. Am J Med Genet (1994) 0.76

Aortic stiffness with the Williams-Beuren syndrome. Pediatr Cardiol (1997) 0.76

[Hearing screening with automatic evaluation of TEOAE and a new method of automatic evaluation of early auditory evoked potentials. Optimization and field trial]. HNO (2002) 0.76

Picture of the month. William-Beuren syndrome. Arch Pediatr Adolesc Med (1997) 0.75

Metacarpophalangeal pattern profile (MCPP) analysis in Williams-Beuren Syndrome (WBS). Am J Med Genet (2001) 0.75

[Diastrophic dysplasia. A congenital syndrome with remarkable changes of the external ear and stridor]. HNO (1990) 0.75

Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients. Am J Med Genet (2000) 0.75

How necessary is a chromosomal analysis in growth-retarded girls? Clin Genet (1990) 0.75

Neurological, cognitive, and behavioural outcome of higher order multiple births. Neuropediatrics (2010) 0.75

Magnetic resonance imaging of the brain in Williams-Beuren syndrome. Am J Med Genet (1997) 0.75

Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome. Am J Med Genet (1994) 0.75