Literature DB >> 20125192

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Eberhard Schwinger1, Koen Devriendt, Anita Rauch, Nicole Philip.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20125192      PMCID： PMC2987430          DOI： 10.1038/ejhg.2010.5

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Authors:  C Carlson; H Sirotkin; R Pandita; R Goldberg; J McKie; R Wadey; S R Patanjali; S M Weissman; K Anyane-Yeboa; D Warburton; P Scambler; R Shprintzen; R Kucherlapati; B E Morrow
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  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

3.  The annual incidence of DiGeorge/velocardiofacial syndrome.

Authors:  K Devriendt; J P Fryns; G Mortier; M N van Thienen; K Keymolen
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

4.  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

5.  Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

Authors:  S Oskarsdóttir; M Vujic; A Fasth
Journal:  Arch Dis Child       Date:  2004-02       Impact factor: 3.791

6.  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

7.  22q11.2 deletion syndrome in Singapore (2000-2003): a case for active ascertainment.

Authors:  K B L Tan; S K Chew; G S H Yeo
Journal:  Singapore Med J       Date:  2008-04       Impact factor: 1.858

Review 8.  Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

Authors:  Beverly S Emanuel
Journal:  Dev Disabil Res Rev       Date:  2008

9.  Role of TBX1 in human del22q11.2 syndrome.

Authors:  Hisato Yagi; Yoshiyuki Furutani; Hiromichi Hamada; Takashi Sasaki; Shuichi Asakawa; Shinsei Minoshima; Fukiko Ichida; Kunitaka Joo; Misa Kimura; Shin-ichiro Imamura; Naoyuki Kamatani; Kazuo Momma; Atsuyoshi Takao; Makoto Nakazawa; Nobuyoshi Shimizu; Rumiko Matsuoka
Journal:  Lancet       Date:  2003-10-25       Impact factor: 79.321
  9 in total
  3 in total

1.  More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Authors:  N Corsten-Janssen; S C Saitta; L H Hoefsloot; D M McDonald-McGinn; D A Driscoll; R Derks; K A Dickinson; W S Kerstjens-Frederikse; B S Emanuel; E H Zackai; C M A van Ravenswaaij-Arts
Journal:  Mol Syndromol       Date:  2013-05-28

Review 2.  22q11.2 deletion syndrome.

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal:  Nat Rev Dis Primers       Date:  2015-11-19       Impact factor: 52.329

3.  Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

Authors:  Magdalena Koczkowska; Jolanta Wierzba; Robert Śmigiel; Maria Sąsiadek; Magdalena Cabała; Ryszard Ślężak; Mariola Iliszko; Iwona Kardaś; Janusz Limon; Beata S Lipska-Ziętkiewicz
Journal:  J Appl Genet       Date:  2016-09-14       Impact factor: 3.240
  3 in total

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