Literature DB >> 16470795

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

Emily G Farrow, Siobhan I Davis, Sean D Mooney, Peter Beighton, Leo Mascarenhas, Yvonne R Gutierrez, Pisit Pitukcheewanont, Kenneth E White.   

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Year:  2006        PMID： 16470795     DOI： 10.1002/ajmg.a.31106

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


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  19 in total

Review 1.  FGF23 and Phosphate Wasting Disorders.

Authors:  Xianglan Huang; Yan Jiang; Weibo Xia
Journal:  Bone Res       Date:  2013-06-28       Impact factor: 13.567

Review 2.  Disorders of phosphate homeostasis and tissue mineralisation.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Endocr Dev       Date:  2009-06-03

Review 3.  Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.

Authors:  Kenneth E White; Julia M Hum; Michael J Econs
Journal:  Curr Osteoporos Rep       Date:  2014-09       Impact factor: 5.096

Review 4.  Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.

Authors:  Bracha K Goldsweig; Thomas O Carpenter
Journal:  Curr Osteoporos Rep       Date:  2015-04       Impact factor: 5.096

Review 5.  Novel functions of circulating Klotho.

Authors:  Julia M Hum; Linda O'Bryan; Rosamund C Smith; Kenneth E White
Journal:  Bone       Date:  2016-11-23       Impact factor: 4.398

Review 6.  FGF23 and syndromes of abnormal renal phosphate handling.

Authors:  Clemens Bergwitz; Harald Jüppner
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

Review 7.  Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.

Authors:  Hichem Miraoui; Andrew Dwyer; Nelly Pitteloud
Journal:  Mol Cell Endocrinol       Date:  2011-06-01       Impact factor: 4.102

8.  Osteoglophonic dysplasia: A 'common' mutation in a rare disease.

Authors:  A J Sow; R Ramli; Z A Latiff; S Ichikawa; A K Gray; R Nordin; M N Abd Jabar; S H A Primuharsa Putra; C H Siar; M J Econs
Journal:  Clin Genet       Date:  2010-03-05       Impact factor: 4.438

Review 9.  The FGF23-Klotho axis: endocrine regulation of phosphate homeostasis.

Authors:  M Shawkat Razzaque
Journal:  Nat Rev Endocrinol       Date:  2009-11       Impact factor: 43.330

Review 10.  Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.

Authors:  Murat Bastepe; Harald Jüppner
Journal:  Rev Endocr Metab Disord       Date:  2008-03-26       Impact factor: 6.514
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