Literature DB >> 20453638

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.

Gurpreet Singh Kochar1, Anita Choudhary, Ankur Gadodia, Neerja Gupta, Michael A Simpson, Andrew H Crosby, Madhulika Kabra.   

Abstract

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Year:  2010        PMID： 20453638     DOI： 10.1097/MCD.0b013e32833a22c5

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  8 in total

1.  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

2.  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

Review 3.  The ABCs of the atypical Fam20 secretory pathway kinases.

Authors:  Carolyn A Worby; Joshua E Mayfield; Adam J Pollak; Jack E Dixon; Sourav Banerjee
Journal:  J Biol Chem       Date:  2021-01-08       Impact factor: 5.157

4.  Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.

Authors:  Shruti Bajaj; Fazal Nabi; Jhanvi Shah; Harsh Sheth
Journal:  BMC Pediatr       Date:  2021-03-06       Impact factor: 2.125

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

7.  A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Authors:  Mehmet Eltan; Ceren Alavanda; Zehra Yavas Abali; Pinar Ergenekon; Nilufer Yalındag Ozturk; Mustafa Sakar; Adnan Dagcinar; Tarik Kirkgoz; Sare Betul Kaygusuz; Yasemin Gokdemir; Huriye Nursel Elcioglu; Tulay Guran; Abdullah Bereket; Pinar Ata; Serap Turan
Journal:  Calcif Tissue Int       Date:  2020-04-27       Impact factor: 4.333

8.  Natural history of non-lethal Raine syndrome during childhood.

Authors:  Chiara Mameli; Giulia Zichichi; Nasim Mahmood; Siham Chafai Elalaoui; Adnan Mirza; Poonam Dharmaraj; Marco Burrone; Elisa Cattaneo; Jayesh Sheth; Ajit Gandhi; Gurpreet Singh Kochar; Fowzan Sami Alkuraya; Madhulika Kabra; Giuseppe Mercurio; Gianvincenzo Zuccotti
Journal:  Orphanet J Rare Dis       Date:  2020-04-16       Impact factor: 4.123
  8 in total

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