Literature DB >> 7633430

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

M L Budarf1, B A Konkle, L B Ludlow, D Michaud, M Li, D J Yamashiro, D McDonald-McGinn, E H Zackai, D A Driscoll.   

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Year:  1995        PMID： 7633430     DOI： 10.1093/hmg/4.4.763

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  30 in total

Review 1.  Genetic abnormalities of Bernard-Soulier syndrome.

Authors:  Shinji Kunishima; Tadashi Kamiya; Hidehiko Saito
Journal:  Int J Hematol       Date:  2002-11       Impact factor: 2.490

2.  Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome.

Authors:  Véronique Latger-Cannard; Danièle Bensoussan; Marie-Josée Grégoire; François Marcon; Jean-Louis Cloez; Bruno Leheup; Philippe Jonveaux; Thomas Lecompte; Pierre Bordigoni
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

3.  Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

4.  Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.

Authors:  B Zieger; Y Hashimoto; J Ware
Journal:  J Clin Invest       Date:  1997-02-01       Impact factor: 14.808

5.  Chromosome 22q11 deletion presenting as the Potter sequence.

Authors:  K Devriendt; P Moerman; D Van Schoubroeck; K Vandenberghe; J P Fryns
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

6.  A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers.

Authors:  Trevor J Pemberton; Paul Verdu; Noémie S Becker; Cristen J Willer; Barry S Hewlett; Sylvie Le Bomin; Alain Froment; Noah A Rosenberg; Evelyne Heyer
Journal:  Hum Genet       Date:  2018-07-14       Impact factor: 4.132

7.  Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.

Authors:  Richard Paylor; Beate Glaser; Annalisa Mupo; Paris Ataliotis; Corinne Spencer; Angela Sobotka; Chelsey Sparks; Chul-Hee Choi; John Oghalai; Sarah Curran; Kieran C Murphy; Stephen Monks; Nigel Williams; Michael C O'Donovan; Michael J Owen; Peter J Scambler; Elizabeth Lindsay
Journal:  Proc Natl Acad Sci U S A       Date:  2006-05-09       Impact factor: 11.205

Review 8.  Inherited platelet disorders: thrombocytopenias and thrombocytopathies.

Authors:  Giovanna D'Andrea; Massimiliano Chetta; Maurizio Margaglione
Journal:  Blood Transfus       Date:  2009-10       Impact factor: 3.443

9.  A Hirschsprung disease locus at 22q11?

Authors:  W S Kerstjens-Frederikse; R M Hofstra; A J van Essen; J H Meijers; C H Buys
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

10.  Hematological abnormalities and 22q11.2 deletion syndrome.

Authors:  Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Pedro Paulo Albino Dos Santos; Paulo Ricardo Gazzola Zen; Giorgio Adriano Paskulin
Journal:  Rev Bras Hematol Hemoter       Date:  2011
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