Molecular studies of DiGeorge syndrome.

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion

1978 • 726 citations

The spectrum of the DiGeorge syndrome

1979 • 401 citations

A deletion in chromosome 22 can cause digeorge syndrome

1981 • 366 citations

Contiguous gene syndromes: A component of recognizable syndromes

1986 • 339 citations

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

1982 • 238 citations

The DiGeorge anomaly as a developmental field defect

1986 • 213 citations

Chromosome deletion in a case of retinoblastoma

1963 • 213 citations

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

1982 • 191 citations

Miller-Dieker syndrome: Lissencephaly andmonosomy 17p

1983 • 186 citations

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

1988 • 183 citations

Characterization of the Supernumerary Chromosome in Cat Eye Syndrome

1986 • 159 citations

An improved method for G-banding chromosomes after in situ hybridization

1984 • 132 citations

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13

1984 • 118 citations

Di George syndrome and 22q11 rearrangements

1986 • 117 citations

The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

1984 • 107 citations

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1984 • 95 citations

A genetic linkage map of the long arm of human chromosome 22

1989 • 87 citations

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

1980 • 82 citations

Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter

1980 • 79 citations

bcr genes and transcripts.

1988 • 74 citations

DiGeorge's or the III-IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis.

1975 • 68 citations

Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints.

1987 • 62 citations

Comparative mapping of the constitutional and tumor-associated 11;22 translocations.

1989 • 55 citations

Microdeletion syndromes, balanced translocations, and gene mapping.

1988 • 48 citations

Multifocal meningiomas in a patient with a constitutional ring chromosome 22.

1986 • 47 citations

Phenotypic correlations in patients with ring chromosome 22

1977 • 47 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

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

1986 • 27 citations

Linear order of the four BCR-related loci in 22q11

1988 • 18 citations

Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions

1975 • 17 citations

Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome.

1980 • 12 citations

In situ hybridization and translocation breakpoint mapping

1985 • 10 citations