Literature DB >> 7778605

Craniosynostoses: phenotypic/molecular correlations.

M M Cohen.   

Abstract

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Year:  1995        PMID： 7778605     DOI： 10.1002/ajmg.1320560327

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  11 in total

1.  Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Authors:  W Reardon; D Wilkes; P Rutland; L J Pulleyn; S Malcolm; J C Dean; R D Evans; B M Jones; R Hayward; C M Hall; N C Nevin; M Baraister; R M Winter
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes.

Authors:  Thomas Ziebart; Florian G Draenert; Danuta Galetzka; Gregor Babaryka; Ralf Schmidseder; Wilfried Wagner; Oliver Bartsch
Journal:  Clin Oral Investig       Date:  2013-01       Impact factor: 3.573

3.  Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Authors:  M R Passos-Bueno; A Richieri-Costa; A L Sertié; A Kneppers
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

4.  Sustained platelet-derived growth factor receptor alpha signaling in osteoblasts results in craniosynostosis by overactivating the phospholipase C-gamma pathway.

Authors:  Anne Moenning; Richard Jäger; Angela Egert; Wolfram Kress; Eva Wardelmann; Hubert Schorle
Journal:  Mol Cell Biol       Date:  2008-12-01       Impact factor: 4.272

5.  Confocal laser scanning microscopic analysis of collagen scaffolding patterns in cranial sutures.

Authors:  Stephen M Warren; Benjamin Walder; Wojciech Dec; Michael T Longaker; Kang Ting
Journal:  J Craniofac Surg       Date:  2008-01       Impact factor: 1.046

6.  Differential effects of TGF-beta1 and TGF-beta3 on chondrogenesis in posterofrontal cranial suture-derived mesenchymal cells in vitro.

Authors:  Aaron W James; Yue Xu; Jacqueline K Lee; Ruidi Wang; Michael T Longaker
Journal:  Plast Reconstr Surg       Date:  2009-01       Impact factor: 4.730

7.  Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction.

Authors:  Arash Esmaeli; Farideh Nejat; Zohreh Habibi; Mostafa El Khashab
Journal:  J Pediatr Neurosci       Date:  2014 Sep-Dec

Review 8.  Multidisciplinary care of craniosynostosis.

Authors:  Edward P Buchanan; Yunfeng Xue; Amy S Xue; Asaf Olshinka; Sandi Lam
Journal:  J Multidiscip Healthc       Date:  2017-07-06

9.  Apert syndrome: A case report and review of the literature.

Authors:  Tuba Tulay Koca
Journal:  North Clin Istanb       Date:  2016-05-14

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
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