Literature DB >> 8230153

CATCH 22.

J G Hall.   

Abstract

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Year:  1993        PMID： 8230153      PMCID： PMC1016557          DOI： 10.1136/jmg.30.10.801

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


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  9 in total

Review 1.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

2.  Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Authors:  B S Emanuel
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

3.  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

4.  Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

Authors:  R Wadey; S Daw; A Wickremasinghe; C Roberts; D Wilson; J Goodship; J Burn; S Halford; P J Scambler
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.  A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Authors:  R J Shprintzen; R B Goldberg; M L Lewin; E J Sidoti; M D Berkman; R V Argamaso; D Young
Journal:  Cleft Palate J       Date:  1978-01

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
  14 in total

1.  Transition from latent to overt hypoparathyroidism in a child with CATCH 22.

Authors:  T Hasegawa; Y Hasegawa; T Aso; S Koto; N Tanaka; S Asamura; T Nagai; Y Tsuchiya
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

2.  The transition from latent to overt hypoparathyroidism in a child with CATCH 22 who showed subnormal parathyroid hormone response to ethylenediaminetetraacetic acid infusion.

Authors:  T Hasegawa; Y Hasegawa; T Aso; S Koto; N Tanaka; S Asamura; T Nagai; Y Tsuchiya
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

Review 3.  22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors:  A S Bassett; E W Chow
Journal:  Biol Psychiatry       Date:  1999-10-01       Impact factor: 13.382

4.  Velocardiofacial syndrome and DiGeorge sequence.

Authors:  R J Shprintzen
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

5.  Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH.

Authors:  E Zrnová; V Vranová; J Soukalová; I Slámová; M Vilémová; R Gaillyová; P Kuglík
Journal:  Mol Syndromol       Date:  2012-01-26

6.  Clinical and molecular study of DiGeorge sequence.

Authors:  A Levy-Mozziconacci; F Wernert; P Scambler; F Rouault; D Metras; B Kreitman; D Depetris; M G Mattei; N Philip
Journal:  Eur J Pediatr       Date:  1994-11       Impact factor: 3.183

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

Authors:  A Lipson; B Emanuel; P Colley; K Fagan; D A Driscoll
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

Review 8.  Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Authors:  S Demczuk; A Lévy; M Aubry; M F Croquette; N Philip; M Prieur; U Sauer; P Bouvagnet; G A Rouleau; G Thomas
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

9.  Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

Authors:  S Debrus; G Berger; A de Meeus; U Sauer; S Guillaumont; M Voisin; A Bozio; S Demczuk; A Aurias; P Bouvagnet
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

Review 10.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
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