Literature DB >> 27206688

Floating Harbor Syndrome.

Moirangthem Amita1, Priyanka Srivastava1, Divya Agarwal1, Shubha R Phadke2.   

Abstract

Mesh：

Year:  2016        PMID： 27206688     DOI： 10.1007/s12098-016-2153-8

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Authors:  Rebecca L Hood; Matthew A Lines; Sarah M Nikkel; Jeremy Schwartzentruber; Chandree Beaulieu; Małgorzata J M Nowaczyk; Judith Allanson; Chong Ae Kim; Dagmar Wieczorek; Jukka S Moilanen; Didier Lacombe; Gabriele Gillessen-Kaesbach; Margo L Whiteford; Caio Robledo D C Quaio; Israel Gomy; Debora R Bertola; Beate Albrecht; Konrad Platzer; George McGillivray; Ruobing Zou; D Ross McLeod; Albert E Chudley; Bernard N Chodirker; Janet Marcadier; Jacek Majewski; Dennis E Bulman; Susan M White; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

2.  Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

Authors:  Michael Reschen; Usha Kini; Rebecca L Hood; Kym M Boycott; Jane Hurst; Christopher A O'Callaghan
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

3.  Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

Authors:  Keisuke Nagasaki; Tadashi Asami; Hidetoshi Sato; Yohei Ogawa; Toru Kikuchi; Akihiko Saitoh; Tsutomu Ogata; Maki Fukami
Journal:  Am J Med Genet A       Date:  2013-12-20       Impact factor: 2.802

4.  The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Authors:  Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben-Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destrée; David Fitzpatrick; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Héron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Møller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sá; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; I Karen Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld-Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott
Journal:  Orphanet J Rare Dis       Date:  2013-04-27       Impact factor: 4.123

5.  Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Authors:  Wenke Seifert; Peter Meinecke; Gabriele Krüger; Eva Rossier; Wolfram Heinritz; Achim Wüsthof; Denise Horn
Journal:  BMC Med Genet       Date:  2014-11-30       Impact factor: 2.103
  5 in total
  1 in total

1.  Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Authors:  Shujie Zhang; Shaoke Chen; Haisong Qin; Haiming Yuan; Yalei Pi; Yu Yang; Hui Huang; Guimei Li; Yan Sun; Zhihua Wang; Huamei Ma; Xiaoling Fu; Ting Zhou; Jian Wang; Huifeng Zhang; Yiping Shen
Journal:  Orphanet J Rare Dis       Date:  2019-06-14       Impact factor: 4.123
  1 in total

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