Literature DB >> 23763483

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

M Kehrer1, A Beckmann, J Wyduba, U Finckh, A Dufke, U Gaiser, A Tzschach.   

Abstract

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Year:  2013        PMID： 23763483     DOI： 10.1111/cge.12199

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

Review 1.  [Floating-Harbor syndrome: a case report and literature review].

Authors:  Rong-Min Li; Ya-Chao Lu; Zhen Li; Jie-Ying Wang; Jie Chang; Shu-Qin Lei; Qiao Zeng; Yan-Mei Sang
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2019-12

2.  A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.

Authors:  Boxun Zhao; Jill A Madden; Jasmine Lin; Gerard T Berry; Monica H Wojcik; Xuefang Zhao; Harrison Brand; Michael Talkowski; Eunjung Alice Lee; Pankaj B Agrawal
Journal:  Eur J Hum Genet       Date:  2022-06-30       Impact factor: 5.351

3.  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

4.  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.  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

6.  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

7.  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
  7 in total

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