Literature DB >> 3171794

A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome).

P L Robinson1, M Shohat, R M Winter, W J Conte, D Gordon-Nesbitt, M Feingold, Z Laron, D L Rimoin.   

Abstract

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Year:  1988        PMID： 3171794     DOI： 10.1016/s0022-3476(88)80384-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  13 in total

1.  Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.

Authors:  S Cannavò; L Bartolone; D Lapa; M Venturino; B Almoto; A Violi; F Trimarchi
Journal:  J Endocrinol Invest       Date:  2002-01       Impact factor: 4.256

2.  Floating-Harbor syndrome.

Authors:  M A Patton; J Hurst; D Donnai; C M McKeown; T Cole; J Goodship
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

3.  Rubinstein-Taybi Syndrome: A Rare Case Report.

Authors:  Suyash S Tomar; Bhagyashree B Supekar; Jayesh Mukhi; Rajesh Pratap Singh
Journal:  Indian Dermatol Online J       Date:  2020-03-09

4.  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

5.  The Floating-Harbor syndrome.

Authors:  F Majewski; H G Lenard
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

6.  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

7.  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

Review 8.  Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

Authors:  D Lacombe; M A Patton; C Elleau; J Battin
Journal:  Eur J Pediatr       Date:  1995-08       Impact factor: 3.183

9.  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

10.  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
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