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Literature DB >> 19610084

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Anne Slavotinek¹, Howard Crawford, Mahin Golabi, Cathy Tao, Hazel Perry, Sneha Oberoi, Karin Vargervik, Michael Friez.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2009 PMID： 19610084 PMCID： PMC2785435 DOI： 10.1002/ajmg.a.32947

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

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12 in total

1. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.

Authors: Rosa Andrea Pardo Vargas; Gustavo Henrique Boff Maegawa; Silvia Castillo Taucher; Júlio César L Leite; Patricia Sanz; Juan Cifuentes; Mauro Parra; Hernán Muñoz; Carlos Magno Maranduba; Maria R Passos-Bueno
Journal: Am J Med Genet A Date: 2003-08-15 Impact factor: 2.802

2. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Authors: K A Przylepa; W Paznekas; M Zhang; M Golabi; W Bias; M J Bamshad; J C Carey; B D Hall; R Stevenson; S Orlow; M M Cohen; E W Jabs
Journal: Nat Genet Date: 1996-08 Impact factor: 38.330

3. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Authors: Elisabeth Lajeunie; Solange Heuertz; Vincent El Ghouzzi; Jelena Martinovic; Dominique Renier; Martine Le Merrer; Jacky Bonaventure
Journal: Eur J Hum Genet Date: 2006-03 Impact factor: 4.246

Review 4. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

Authors: Julie McGaughran; Stephen Sinnott; Rachel Susman; Michael F Buckley; George Elakis; Timothy Cox; Tony Roscioli
Journal: Clin Dysmorphol Date: 2006-04 Impact factor: 0.816

5. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Authors: Renata Fonseca; Marcelo A Costa-Lima; Viviana Cosentino; Iêda M Orioli
Journal: Am J Med Genet A Date: 2008-03-01 Impact factor: 2.802

6. Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.

Authors: T-J Wang; C-B Huang; F-J Tsai; J-Y Wu; R-B Lai; M Hsiao
Journal: Clin Genet Date: 2002-03 Impact factor: 4.438

7. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Authors: G A Meyers; D Day; R Goldberg; D L Daentl; K A Przylepa; L J Abrams; J M Graham; M Feingold; J B Moeschler; E Rawnsley; A F Scott; E W Jabs
Journal: Am J Hum Genet Date: 1996-03 Impact factor: 11.025

8. A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.

Authors: Takuya Akai; Hideaki Iizuka; Miyuki Kishibe; Shigehiko Kawakami; Azusa Kobayashi; Tetsuo Ozawa
Journal: Pediatr Neurosurg Date: 2002-08 Impact factor: 1.162

9. Beare-Stevenson cutis gyrata syndrome.

Authors: B D Hall; R G Cadle; M Golabi; C A Morris; M M Cohen
Journal: Am J Med Genet Date: 1992-09-01

10. The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

Authors: So-Hee Eun; Ki Ssu Ha; Bo-Kyung Je; Eung Seok Lee; Byung Min Choi; Jung Hwa Lee; Baik-Lin Eun; Kee Hwan Yoo
Journal: J Korean Med Sci Date: 2007-04 Impact factor: 2.153

8 in total

Review 1. Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.

Authors: C Corbett Wilkinson; David K Manchester; Robert F Keating; Lawrence L Ketch; Ken R Winston
Journal: Childs Nerv Syst Date: 2012-06-04 Impact factor: 1.475

2. Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Authors: Shannon LeBlanc; David David; Alison Colley; Michael Buckley; Tony Roscioli; Christopher Barnett
Journal: Mol Syndromol Date: 2018-04-24

Review 3. Craniosynostosis: molecular pathways and future pharmacologic therapy.

Authors: Kshemendra Senarath-Yapa; Michael T Chung; Adrian McArdle; Victor W Wong; Natalina Quarto; Michael T Longaker; Derrick C Wan
Journal: Organogenesis Date: 2012-10-01 Impact factor: 2.500

4. FGFR2 Extracellular Domain In-Frame Deletions Are Therapeutically Targetable Genomic Alterations That Function as Oncogenic Drivers in Cholangiocarcinoma.

Authors: James M Cleary; Srivatsan Raghavan; Qibiao Wu; Yvonne Y Li; Liam F Spurr; Hersh V Gupta; Douglas A Rubinson; Isobel J Fetter; Jason L Hornick; Jonathan A Nowak; Giulia Siravegna; Lipika Goyal; Lei Shi; Lauren K Brais; Maureen Loftus; Atul B Shinagare; Thomas A Abrams; Thomas E Clancy; Jiping Wang; Anuj K Patel; Franck Brichory; Anne Vaslin Chessex; Ryan J Sullivan; Rachel B Keller; Sarah Denning; Emma R Hill; Geoffrey I Shapiro; Anna Pokorska-Bocci; Claudio Zanna; Kimmie Ng; Deborah Schrag; Pasi A Jänne; William C Hahn; Andrew D Cherniack; Ryan B Corcoran; Matthew Meyerson; Antoine Daina; Vincent Zoete; Nabeel Bardeesy; Brian M Wolpin
Journal: Cancer Discov Date: 2021-04-29 Impact factor: 39.397

8. Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.

Authors: Leonardo C Ferreira; José H Dantas Junior
Journal: Front Genet Date: 2020-02-25 Impact factor: 4.599