Literature DB >> 20236123

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

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.   

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Year:  2010        PMID： 20236123      PMCID： PMC4201914          DOI： 10.1111/j.1399-0004.2010.01382.x

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


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  4 in total

1.  Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

Authors:  Emily G Farrow; Siobhan I Davis; Sean D Mooney; Peter Beighton; Leo Mascarenhas; Yvonne R Gutierrez; Pisit Pitukcheewanont; Kenneth E White
Journal:  Am J Med Genet A       Date:  2006-03-01       Impact factor: 2.802

2.  Osteoglophonic dysplasia: dental and orthodontic implications.

Authors:  T S Roberts; L Stephen; P Beighton
Journal:  Orthod Craniofac Res       Date:  2006-08       Impact factor: 1.826

3.  Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

Authors:  Kenneth E White; Jose M Cabral; Siobhan I Davis; Tonya Fishburn; Wayne E Evans; Shoji Ichikawa; Joanna Fields; Xijie Yu; Nick J Shaw; Neil J McLellan; Carole McKeown; David Fitzpatrick; Kai Yu; David M Ornitz; Michael J Econs
Journal:  Am J Hum Genet       Date:  2004-12-28       Impact factor: 11.025

4.  Osteoglophonic dwarfism.

Authors:  P Beighton; B J Cremin; K Kozlowski
Journal:  Pediatr Radiol       Date:  1980-09
  4 in total
  5 in total

Review 1.  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

2.  Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Authors:  Eric T Rush; Britt Johnson; Swaroop Aradhya; Daniel Beltran; Sara L Bristow; Scott Eisenbeis; Norma E Guerra; Stan Krolczyk; Nicole Miller; Ana Morales; Prameela Ramesan; Soodabeh Sarafrazi; Rebecca Truty; Kathryn Dahir
Journal:  J Bone Miner Res       Date:  2021-11-10       Impact factor: 6.390

Review 3.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03

4.  GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.

Authors:  Vassos Neocleous; Pavlos Fanis; Meropi Toumba; George A Tanteles; Melpo Schiza; Feride Cinarli; Nicolas C Nicolaides; Anastasis Oulas; George M Spyrou; Christos S Mantzoros; Dimitrios Vlachakis; Nicos Skordis; Leonidas A Phylactou
Journal:  Front Endocrinol (Lausanne)       Date:  2020-08-28       Impact factor: 5.555

5.  TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Authors:  Carolina Cavalieri Gomes; Tenzin Gayden; Andrea Bajic; Osama F Harraz; Jonathan Pratt; Hamid Nikbakht; Eric Bareke; Marina Gonçalves Diniz; Wagner Henriques Castro; Pascal St-Onge; Daniel Sinnett; HyeRim Han; Barbara Rivera; Leonie G Mikael; Nicolas De Jay; Claudia L Kleinman; Elvis Terci Valera; Angelia V Bassenden; Albert M Berghuis; Jacek Majewski; Mark T Nelson; Ricardo Santiago Gomez; Nada Jabado
Journal:  Nat Commun       Date:  2018-11-01       Impact factor: 14.919
  5 in total

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