Literature DB >> 8863171

Prevalence of 22q11 microdeletion.

S Tézenas Du Montcel, H Mendizabai, S Aymé, A Lévy, N Philip.   

Abstract

Mesh：

Year:  1996        PMID： 8863171      PMCID： PMC1050716          DOI： 10.1136/jmg.33.8.719

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


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  2 in total

1.  "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

2.  Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.

Authors:  G Scirè; B Dallapiccola; P Iannetti; F Bonaiuto; C Galasso; R Mingarelli; B Boscherini
Journal:  Am J Med Genet       Date:  1994-10-01
  2 in total
  83 in total

Review 1.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

2.  Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.

Authors:  V Shashi; W Harrell; S Eack; C Sanders; A McConkie-Rosell; M S Keshavan; M J Bonner; K Schoch; S R Hooper
Journal:  J Intellect Disabil Res       Date:  2015-04-14

3.  MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q.

Authors:  J A S Vorstman; G R Jalali; E F Rappaport; A M Hacker; C Scott; B S Emanuel
Journal:  Hum Mutat       Date:  2006-08       Impact factor: 4.878

4.  Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

Authors:  Deborah A Driscoll; Torrey Boland; Beverly S Emanuel; Richard E Kirschner; Don LaRossa; Jeanne Manson; Donna McDonald-McGinn; Peter Randall; Cynthia Solot; Elaine Zackai; Laura E Mitchell
Journal:  Cleft Palate Craniofac J       Date:  2006-07

5.  Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.

Authors:  Usha T Sundaram; Donna M McDonald-McGinn; Dale Huff; Beverly S Emanuel; Elaine H Zackai; Deborah A Driscoll; Joann Bodurtha
Journal:  Am J Med Genet A       Date:  2007-09-01       Impact factor: 2.802

6.  Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.

Authors:  Mechteld L C Hoogendoorn; Jacob A S Vorstman; Gholam R Jalali; Jean-Paul Selten; Richard J Sinke; Beverly S Emanuel; René S Kahn
Journal:  Schizophr Res       Date:  2007-10-26       Impact factor: 4.939

Review 7.  Recent developments in the application of the nonverbal learning disabilities model.

Authors:  Brenna C McDonald
Journal:  Curr Psychiatry Rep       Date:  2002-10       Impact factor: 5.285

8.  The Neuroanatomy of Autism Spectrum Disorder Symptomatology in 22q11.2 Deletion Syndrome.

Authors:  M Gudbrandsen; E Daly; C M Murphy; R H Wichers; V Stoencheva; E Perry; D Andrews; C E Blackmore; M Rogdaki; L Kushan; C E Bearden; D G M Murphy; M C Craig; C Ecker
Journal:  Cereb Cortex       Date:  2019-07-22       Impact factor: 5.357

9.  Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.

Authors:  Vandana Shashi; Thomas R Kwapil; Jessica Kaczorowski; Margaret N Berry; Cesar S Santos; Timothy D Howard; Dhruman Goradia; Konasale Prasad; Diwadkar Vaibhav; Rajaprabhakaran Rajarethinam; Edward Spence; Matcheri S Keshavan
Journal:  Psychiatry Res       Date:  2010-01-30       Impact factor: 3.222

Review 10.  22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.

Authors:  Peter J Scambler
Journal:  Pediatr Cardiol       Date:  2010-04       Impact factor: 1.655
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