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DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Data up to Jan 2025

Published1993
Citations106
References27

Total Citations Per Year

Abstract

References (27)

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

1993 • 430 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

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 new concept of the cellular basis of immunity

1965 • 352 citations

Contiguous gene syndromes: A component of recognizable syndromes

1986 • 339 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

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

1992 • 156 citations

DiGeorge syndrome(s)

1972 • 119 citations

Prediction of persistent immunodeficiency in the DiGeorge anomaly

1989 • 117 citations

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

1992 • 109 citations

The DiGeorge syndrome

1988 • 106 citations

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1984 • 95 citations

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

1980 • 64 citations

The DiGeorge sequence

1989 • 62 citations

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly

1988 • 59 citations

Aplastic Anemia Complicating Infectious Mononucleosis: A Case Report and Review of the Literature

1981 • 55 citations

CONGENITAL ABSENCE OF THE PARATHYROID AND THYMUS GLANDS IN AN INFANT

1966 • 52 citations

Congenital absence of the parathyroid and thymus glands in an infant. (3 and 4 pharyngeal pouch syndrome).

1966 • 51 citations

Unmasking of Hypoparathyroidism in Familial Partial DiGeorge Syndrome by Challenge with Disodium Edetate

1988 • 43 citations

Congenital absence of the parathyroid glands.

1959 • 41 citations

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

1989 • 35 citations

Mapping of the nu gene using congenic nude strains and in situ hybridization.

1992 • 26 citations

Predictive testing for adult-onset genetic disease: ethical and legal implications of the use of linkage analysis for Huntington disease.

1990 • 23 citations

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DiGeorge syndrome: an historical review of clinical and cytogenetic features. (1993) – Journal of Medical Genetics | Metascience Observatory Explorer