Literature DB >> 1218224

The Floating-Harbor syndrome.

J Leisti, D W Hollister, D L Rimoin.   

Abstract

Entities:  

Mesh：

Year:  1975        PMID： 1218224

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  8 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.  Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.

Authors:  Mariia E Turkunova; Yury A Barbitoff; Elena A Serebryakova; Dmitrii E Polev; Olga S Berseneva; Elena B Bashnina; Vladislav S Baranov; Oleg S Glotov; Andrey S Glotov
Journal:  Front Genet       Date:  2022-05-18       Impact factor: 4.772

3.  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

4.  The defining DNA methylation signature of Floating-Harbor Syndrome.

Authors:  Rebecca L Hood; Laila C Schenkel; Sarah M Nikkel; Peter J Ainsworth; Guillaume Pare; Kym M Boycott; Dennis E Bulman; Bekim Sadikovic
Journal:  Sci Rep       Date:  2016-12-09       Impact factor: 4.379

5.  Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Authors:  Carlos R Ferreira; Debra S Regier; Donald W Hadley; P Suzanne Hart; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2017-07-16       Impact factor: 2.183

6.  Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Authors:  Hyun Woo Son; Jeong Eun Lee; Seung Hwan Oh; Changwon Keum; Woo Yeong Chung
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-06-30

7.  Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature.

Authors:  M Budisteanu; N Bögershausen; S M Papuc; S Moosa; M Thoenes; D Riga; A Arghir; B Wollnik
Journal:  Balkan J Med Genet       Date:  2018-10-29       Impact factor: 0.519

8.  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
  8 in total

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