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

Dependence of Thymus Development on Derivatives of the Neural Crest

1984 • 463 citations

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

1992 • 421 citations

The spectrum of the DiGeorge syndrome

1979 • 401 citations

A deletion in chromosome 22 can cause digeorge syndrome

1981 • 366 citations

Cardiovascular anomalies in digeorge syndrome and importance of neural crest as a possible pathogenetic factor

1986 • 359 citations

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

1987 • 339 citations

Right-sided aorta. I. Occurrence of right aortic arch in various types of congenital heart disease. II. Right aortic arch, right descending aorta, and associated anomalies.

1966 • 337 citations

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

1981 • 295 citations

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome

1991 • 230 citations

The DiGeorge anomaly as a developmental field defect

1986 • 213 citations

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

1988 • 183 citations

Genetics, chance, and morphogenesis.

1987 • 172 citations

Deletions within chromosome 22q11 in familial congenital heart disease

1992 • 156 citations

Anatomic and Pathologic Studies in Ventricular Septal Defect

1956 • 132 citations

Cardiac malformations in the velocardiofacial syndrome

1980 • 114 citations

The DiGeorge syndrome

1988 • 106 citations

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

1991 • 95 citations

Di George anomaly and velocardiofacial syndrome.

1990 • 80 citations

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

1993 • 67 citations

Di George Anomaly and Velocardiofacial Syndrome

1990 • 62 citations

Molecular studies of DiGeorge syndrome.

1990 • 53 citations

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

1990 • 49 citations

Velo‐cardio‐facial syndrome presenting as holoprosencephaly

1985 • 48 citations

Mendelian Inheritance in Man

1991 • 34 citations

Facial and immunological anomalies associated with tetralogy of Fallot

1989 • 26 citations

THE ANGIOCARDIOGRAM IN FALLOT'S TETRALOGY

1953 • 25 citations

Natural history of ventricular septal defect with right-sided aortic arch

1970 • 16 citations

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11

1992 • 14 citations

Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome

1992 • 8 citations

Reply from Dr. Shprintzen

1987 • 7 citations

MOLECULAR STUDIES OF MONOSOMY-22Q11 AND ITS CLINICAL CONSEQUENCES

1991 • 4 citations