(Q52213337)

27 April 2018

title

Clinical and molecular study of DiGeorge sequence. (English)

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author

Danielle Depetris

7

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Marie-Geneviève Mattéi

8

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Peter J Scambler

object named as

P Scambler

3

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author name string

A Levy-Mozziconacci

1

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F Wernert

2

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F Rouault

4

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D Metras

5

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B Kreitman

6

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N Philip

9

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publication date

1 November 1994

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European Journal of Pediatrics

published in

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volume

153

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issue

11

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page(s)

813-820

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A prospective cytogenetic study of 36 cases of DiGeorge syndrome

cites work

1 reference

12 December 2020

Velo-cardio-facial syndrome: a review of 120 patients.

1 reference

12 December 2020

DiGeorge syndrome: an historical review of clinical and cytogenetic features

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12 December 2020

What defines DiGeorge anomaly?

1 reference

12 December 2020

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Molecular studies of DiGeorge syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

1 reference

12 December 2020

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

1 reference

12 December 2020

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy: application to regional mapping of human chromosome 11.

1 reference

12 December 2020

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Late‐Onset psychosis in the velo‐cardio‐facial syndrome

1 reference

12 December 2020

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

1 reference

12 December 2020

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

12 December 2020

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

1 reference

12 December 2020

The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

1 reference

12 December 2020

Prediction of persistent immunodeficiency in the DiGeorge anomaly

1 reference

12 December 2020

1 reference

12 December 2020

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

1 reference

12 December 2020

Cytogenetic findings in a prospective series of patients with DiGeorge anomaly

1 reference

12 December 2020

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

1 reference

12 December 2020

The DiGeorge anomaly as a developmental field defect

1 reference

12 December 2020

In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22

1 reference

12 December 2020

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

1 reference

12 December 2020

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

1 reference

12 December 2020

DiGeorge syndrome: part of CATCH 22.

1 reference

12 December 2020

Di George anomaly and velocardiofacial syndrome.

1 reference

12 December 2020

Identifiers

DOI

10.1007/S004310050222

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27 April 2018

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27 April 2018