Variable phenotypes in velocardiofacial syndrome with chromosomal deletion

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

1981 • 828 citations

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

1978 • 593 citations

Prader‐Willi syndrome: Current understanding of cause and diagnosis

1990 • 574 citations

Velo‐cardio‐facial syndrome: A review of 120 patients

1993 • 430 citations

Birth Defects Encyclopedia

1991 • 429 citations

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1992 • 421 citations

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

1992 • 420 citations

The spectrum of the DiGeorge syndrome

1979 • 401 citations

Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome

1992 • 385 citations

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

1986 • 300 citations

The Velo-Cardio-Facial Syndrome: A Clinical and Genetic Analysis

1981 • 295 citations

Velo-cardio-facial syndrome: language and psychological profiles.

1985 • 264 citations

Birth defects encyclopedia

1991 • 209 citations

Confirmation that the velo‐cardio‐facial syndrome is associated with haplo‐insufficiency of genes at chromosome 22q11

1993 • 185 citations

Cardiac malformations in the velocardiofacial syndrome

1980 • 114 citations

Ocular Findings in the Velo-cardio-facial Syndrome

1987 • 82 citations

Di George anomaly and velocardiofacial syndrome.

1990 • 80 citations

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

1984 • 54 citations

Spectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome

1988 • 47 citations

Additional eye findings in a girl with the velo‐cardio‐facial syndrome

1986 • 43 citations

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex

1988 • 24 citations

Velo-cardio-facial Syndrome

2010 • 20 citations

Reply from Dr. Shprintzen

1987 • 7 citations