Literature DB >> 7856669

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

A Giannotti, M C Digilio, B Marino, R Mingarelli, B Dallapiccola.   

Abstract

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Year:  1994        PMID： 7856669     DOI： 10.1002/ajmg.1320530320

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  27 in total

1.  Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome.

Authors:  Alexei M C Machado; Tony J Simon; Vy Nguyen; Donna M McDonald-McGinn; Elaine H Zackai; James C Gee
Journal:  Brain Res       Date:  2006-12-13       Impact factor: 3.252

2.  Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Authors:  H F Sutherland; R Wadey; J M McKie; C Taylor; U Atif; K A Johnstone; S Halford; U J Kim; J Goodship; A Baldini; P J Scambler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.

Authors:  Mudaffer Al-Mudaffer; Prem Puri; William Reardon
Journal:  Pediatr Surg Int       Date:  2006-02-17       Impact factor: 1.827

Review 4.  A new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome.

Authors:  Tony J Simon
Journal:  Dev Disabil Res Rev       Date:  2008

5.  22q11 deletion: a cause of asymmetric crying facies.

Authors:  H S Stewart; J Clayton-Smith
Journal:  Arch Dis Child       Date:  1996-07       Impact factor: 3.791

6.  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

7.  Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Authors:  Anne S Bassett; Donna M McDonald-McGinn; Koen Devriendt; Maria Cristina Digilio; Paula Goldenberg; Alex Habel; Bruno Marino; Solveig Oskarsdottir; Nicole Philip; Kathleen Sullivan; Ann Swillen; Jacob Vorstman
Journal:  J Pediatr       Date:  2011-05-12       Impact factor: 4.406

8.  Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Authors:  M A Sabry; M Zaki; S J Abul Hassan; D G Ramadan; M A Abdel Rasool; S A al Awadi; Q al Saleh
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

9.  Radial aplasia and chromosome 22q11 deletion.

Authors:  M C Digilio; A Giannotti; B Marino; A M Guadagni; M Orzalesi; B Dallapiccola
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

10.  The 22q11.2 deletion in African-American patients: an underdiagnosed population?

Authors:  Donna M McDonald-McGinn; Nancy Minugh-Purvis; Richard E Kirschner; Abbas Jawad; Melissa K Tonnesen; Jason R Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don Larossa; Beverly S Emanuel; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802
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