Literature DB >> 7815448

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

A Lipson, B Emanuel, P Colley, K Fagan, D A Driscoll.   

Abstract

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Year:  1994        PMID： 7815448      PMCID： PMC1050092          DOI： 10.1136/jmg.31.9.741

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


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  9 in total

1.  Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible.

Authors:  P M Bale; C Sotelo-Avila
Journal:  Pediatr Pathol       Date:  1993 Mar-Apr

Review 2.  DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Authors:  F Greenberg
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

3.  CATCH 22.

Authors:  J G Hall
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

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

Authors:  J Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

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

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

6.  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

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

Authors:  S E Holder; R M Winter; S Kamath; P J Scambler
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

8.  Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

Authors:  B Motzkin; R Marion; R Goldberg; R Shprintzen; P Saenger
Journal:  J Pediatr       Date:  1993-09       Impact factor: 4.406

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

Authors:  E Goldmuntz; D Driscoll; M L Budarf; E H Zackai; D M McDonald-McGinn; J A Biegel; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318
  9 in total
  7 in total

1.  Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

Authors:  S Worthington; A Colley; K Fagan; K Dai; A H Lipson
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

2.  Prevalence of 22q11 microdeletion.

Authors:  S Tézenas Du Montcel; H Mendizabai; S Aymé; A Lévy; N Philip
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

3.  Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

Authors:  Y Makita; M Masuno; K Maizumi; K Tachibana; Y Kuroki; H Kurahashi
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

4.  Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Authors:  J Goodship; I Cross; P Scambler; J Burn
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

5.  A population study of chromosome 22q11 deletions in infancy.

Authors:  J Goodship; I Cross; J LiLing; C Wren
Journal:  Arch Dis Child       Date:  1998-10       Impact factor: 3.791

6.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors:  A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

7.  DiGeorge's syndrome presenting as hypocalcemia in an adult.

Authors:  K S Aljabri; R M Bebb
Journal:  Ann Saudi Med       Date:  2005 Mar-Apr       Impact factor: 1.526
  7 in total

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