Literature DB >> 9733045

The annual incidence of DiGeorge/velocardiofacial syndrome.

K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen.   

Abstract

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Year:  1998        PMID： 9733045      PMCID： PMC1051442          DOI： 10.1136/jmg.35.9.789-a

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


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  3 in total

1.  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

2.  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

3.  Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

Authors:  P J Scambler; D Kelly; E Lindsay; R Williamson; R Goldberg; R Shprintzen; D I Wilson; J A Goodship; I E Cross; J Burn
Journal:  Lancet       Date:  1992-05-09       Impact factor: 79.321
  3 in total
  97 in total

Review 1.  CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Authors:  Dheeraj Malhotra; Jonathan Sebat
Journal:  Cell       Date:  2012-03-16       Impact factor: 41.582

Review 2.  Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

Authors:  Shan Gao; Xiao Li; Brad A Amendt
Journal:  Curr Allergy Asthma Rep       Date:  2013-12       Impact factor: 4.806

3.  Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.

Authors:  Rosanna Weksberg; Andrea C Stachon; Jeremy A Squire; Laura Moldovan; Jane Bayani; Stephen Meyn; Eva Chow; Anne S Bassett
Journal:  Hum Genet       Date:  2006-10-07       Impact factor: 4.132

4.  Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.

Authors:  Jian Zhou; Ethan M Goldberg; N Adrian Leu; Lei Zhou; Douglas A Coulter; P Jeremy Wang
Journal:  Hum Mol Genet       Date:  2014-02-25       Impact factor: 6.150

5.  Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features.

Authors:  Kiran A Gul; Torstein Øverland; Liv Osnes; Lars O Baumbusch; Rolf D Pettersen; Kari Lima; Tore G Abrahamsen
Journal:  J Clin Immunol       Date:  2015-03-27       Impact factor: 8.317

6.  Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.

Authors:  Serena Talcott Baughman; Emily Morris; Kimberly Jensen; Jehannine Austin
Journal:  Am J Med Genet A       Date:  2015-05-31       Impact factor: 2.802

7.  DiGeorge Syndrome Associated with Azoospermia: First case in the literature.

Authors:  Ayşegül Özcan; Yavuz Şahin
Journal:  Turk J Urol       Date:  2017-08-03

8.  Models of crk adaptor proteins in cancer.

Authors:  Emily S Bell; Morag Park
Journal:  Genes Cancer       Date:  2012-05

9.  8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.

Authors:  John Ck Barber; Dave Bunyan; Merryl Curtis; Denise Robinson; Susanne Morlot; Anette Dermitzel; Thomas Liehr; Claudia Alves; Joana Trindade; Ana I Paramos; Clare Cooper; Kevin Ocraft; Emma-Jane Taylor; Viv K Maloney
Journal:  Mol Cytogenet       Date:  2010-02-18       Impact factor: 2.009

10.  Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.

Authors:  Ashutosh Halder; Manish Jain; Isha Chaudhary; Madhulika Kabra
Journal:  BMC Med Genet       Date:  2010-06-23       Impact factor: 2.103
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