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

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

1978 • 593 citations

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

1992 • 420 citations

A deletion in chromosome 22 can cause digeorge syndrome

1981 • 366 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

The association of the DiGeorge anomalad with partial monosomy of chromosome 22

1982 • 191 citations

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

1988 • 183 citations

Di George syndrome and 22q11 rearrangements

1986 • 117 citations

Di George anomaly and velocardiofacial syndrome.

1990 • 80 citations

Di George Anomaly and Velocardiofacial Syndrome

1990 • 62 citations

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases.

1985 • 51 citations

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22

1991 • 36 citations

Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence

1989 • 35 citations

Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

1987 • 33 citations

Toward a long-range map of human chromosomal band 22q11

1989 • 29 citations

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement

1986 • 27 citations

Digeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction

1991 • 16 citations

Adjacent‐2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2

1990 • 15 citations