Literature DB >> 16333834

Molecular pathology of Shprintzen-Goldberg syndrome.

Kenjiro Kosaki, Daisuke Takahashi, Toru Udaka, Rika Kosaki, Morio Matsumoto, Shigeharu Ibe, Takeshi Isobe, Yoko Tanaka, Takao Takahashi.   

Abstract

Mesh：

Substances：

Year:  2006        PMID： 16333834     DOI： 10.1002/ajmg.a.31006

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  14 in total

1.  Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Authors:  Xiaoqian Ye; Audrey Guilmatre; Boris Reva; Inga Peter; Yann Heuzé; Joan T Richtsmeier; Deborah J Fox; Rhinda J Goedken; Ethylin Wang Jabs; Paul A Romitti
Journal:  Plast Reconstr Surg       Date:  2016-03       Impact factor: 4.730

2.  Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

Authors:  Mine Arslan-Kirchner; Jörg T Epplen; Laurence Faivre; Guillaume Jondeau; Jörg Schmidtke; Anne De Paepe; Bart Loeys
Journal:  Eur J Hum Genet       Date:  2011-04-27       Impact factor: 4.246

3.  Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.

Authors:  Bhushan Shah; Suman Sahu; Piyush Kalakoti; Sankalp Yadav; M M Aarif Syed; Venugopal Brijmohan Bhattad; Meena Shaikh
Journal:  Australas Med J       Date:  2014-02-28

Review 4.  Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.

Authors:  Takeshi Mizuguchi; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2006-10-24       Impact factor: 3.172

Review 5.  Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.

Authors:  Jason B Wheeler; John S Ikonomidis; Jeffrey A Jones
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

6.  Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Authors:  Yann Heuzé; Gregory Holmes; Inga Peter; Joan T Richtsmeier; Ethylin Wang Jabs
Journal:  Curr Genet Med Rep       Date:  2014-09-01

Review 7.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

8.  Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.

Authors:  Jason B Wheeler; John S Ikonomidis; Jeffrey A Jones
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

9.  In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Authors:  Virginie Carmignac; Julien Thevenon; Lesley Adès; Bert Callewaert; Sophie Julia; Christel Thauvin-Robinet; Lucie Gueneau; Jean-Benoit Courcet; Estelle Lopez; Katherine Holman; Marjolijn Renard; Henri Plauchu; Ghislaine Plessis; Julie De Backer; Anne Child; Gavin Arno; Laurence Duplomb; Patrick Callier; Bernard Aral; Pierre Vabres; Nadège Gigot; Eloisa Arbustini; Maurizia Grasso; Peter N Robinson; Cyril Goizet; Clarisse Baumann; Maja Di Rocco; Jaime Sanchez Del Pozo; Frédéric Huet; Guillaume Jondeau; Gwenaëlle Collod-Beroud; Christophe Beroud; Jeanne Amiel; Valérie Cormier-Daire; Jean-Baptiste Rivière; Catherine Boileau; Anne De Paepe; Laurence Faivre
Journal:  Am J Hum Genet       Date:  2012-10-25       Impact factor: 11.025

10.  Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Authors:  Alexander J Doyle; Jefferson J Doyle; Seneca L Bessling; Samantha Maragh; Mark E Lindsay; Dorien Schepers; Elisabeth Gillis; Geert Mortier; Tessa Homfray; Kimberly Sauls; Russell A Norris; Nicholas D Huso; Dan Leahy; David W Mohr; Mark J Caulfield; Alan F Scott; Anne Destrée; Raoul C Hennekam; Pamela H Arn; Cynthia J Curry; Lut Van Laer; Andrew S McCallion; Bart L Loeys; Harry C Dietz
Journal:  Nat Genet       Date:  2012-09-30       Impact factor: 38.330
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.