Literature DB >> 9598739

Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.

J M Saraiva, E Matoso, I Marques.   

Abstract

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Mesh：

Year:  1998        PMID： 9598739      PMCID： PMC1051298          DOI： 10.1136/jmg.35.4.347-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence?

Authors:  M G Butler; P Mowrey
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

2.  Chromosome 22q11 deletion presenting as the Potter sequence.

Authors:  K Devriendt; P Moerman; D Van Schoubroeck; K Vandenberghe; J P Fryns
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities.

Authors:  R Lauener; R Seger; W Jörg; F Hallé; R Aeppli; A Schinzel
Journal:  Am J Med Genet       Date:  1989-06

4.  Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.

Authors:  K Devriendt; M N Thienen; A Swillen; J P Fryns
Journal:  Dev Med Child Neurol       Date:  1996-10       Impact factor: 5.449

Review 5.  Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Authors:  M C Digilio; B Marino; A Giannotti; R Mingarelli; B Dallapiccola
Journal:  Am J Med Genet       Date:  1995-07-31

Review 6.  Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.

Authors:  S L Marles; B N Chodirker; C R Greenberg; A E Chudley
Journal:  Am J Med Genet       Date:  1995-05-08

7.  First report of glaucoma as a feature of the 3C syndrome.

Authors:  J M Saraiva; E Gama; M M Pires; J F Sequeira
Journal:  Clin Dysmorphol       Date:  1995-04       Impact factor: 0.816

8.  DiGeorge syndrome: part of CATCH 22.

Authors:  D I Wilson; J Burn; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 9.  Velo-cardio-facial syndrome: a review of 120 patients.

Authors:  R Goldberg; B Motzkin; R Marion; P J Scambler; R J Shprintzen
Journal:  Am J Med Genet       Date:  1993-02-01

10.  Cerebellar atrophy in a patient with velocardiofacial syndrome.

Authors:  D R Lynch; D M McDonald-McGinn; E H Zackai; B S Emanuel; D A Driscoll; L A Whitaker; K H Fischbeck
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
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