Literature DB >> 9714445

Raine syndrome.

A Rejjal.   

Abstract

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Year:  1998        PMID： 9714445     DOI： 10.1002/(sici)1096-8628(19980724)78:4<382::aid-ajmg17>3.0.co;2-e

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


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  6 in total

1.  Expression of FAM20C in the osteogenesis and odontogenesis of mouse.

Authors:  Xiaofang Wang; Jianjun Hao; Yixia Xie; Yao Sun; Brianda Hernandez; Albert K Yamoah; Monica Prasad; Qinglin Zhu; Jian Q Feng; Chunlin Qin
Journal:  J Histochem Cytochem       Date:  2010-07-19       Impact factor: 2.479

2.  Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Authors:  M A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; E H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; A Ion; M A Patton; V Murday; A George; A H Crosby
Journal:  Am J Hum Genet       Date:  2007-09-14       Impact factor: 11.025

3.  Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Authors:  Ana Carolina Acevedo; James A Poulter; Priscila Gomes Alves; Caroline Lourenço de Lima; Luiz Claudio Castro; Paulo Marcio Yamaguti; Lilian M Paula; David A Parry; Clare V Logan; Claire E L Smith; Colin A Johnson; Chris F Inglehearn; Alan J Mighell
Journal:  BMC Med Genet       Date:  2015-02-21       Impact factor: 2.103

4.  The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.

Authors:  Hiroyuki O Ishikawa; Aiguo Xu; Eri Ogura; Gerard Manning; Kenneth D Irvine
Journal:  PLoS One       Date:  2012-08-10       Impact factor: 3.240

Review 5.  A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Authors:  Jayesh Sheth; Riddhi Bhavsar; Ajit Gandhi; Frenny Sheth; Dhairya Pancholi
Journal:  BMC Med Genet       Date:  2018-05-11       Impact factor: 2.103

6.  Two Novel FAM20C Variants in A Family with Raine Syndrome.

Authors:  Araceli Hernández-Zavala; Fernando Cortés-Camacho; Icela Palma Lara; Ricardo Godinez-Aguilar; Ana María Espinosa-García; Javier Pérez-Durán; Patricia Villanueva-Ocampo; Carlos Ugarte-Briones; Carlos Alberto Serrano-Bello; Paula Sanchez-Santiago; José Bonilla-Delgado; Marco Antonio Yañez-López; Georgina Victoria-Acosta; Adolfo López-Ornelas; Patricia García Alonso-Themann; José Moreno; Carmen Palacios-Reyes
Journal:  Genes (Basel)       Date:  2020-02-20       Impact factor: 4.096
  6 in total

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