Literature DB >> 23036093

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

C Thauvin-Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, H Dollfus, S Rossignol, M Raynaud, C Philippe, C Badens, R Touraine, C Gomes, B Franco, E Lopez, N Elkhartoufi, L Faivre, A Munnich, N Boddaert, L Van Maldergem, F Encha-Razavi, S Lyonnet, M Vekemans, E Escudier, T Attié-Bitach.   

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Year:  2012        PMID： 23036093     DOI： 10.1111/cge.12013

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


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  12 in total

1.  Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Authors:  Ange-Line Bruel; Sophie Nambot; Virginie Quéré; Antonio Vitobello; Julien Thevenon; Mirna Assoum; Sébastien Moutton; Nada Houcinat; Daphné Lehalle; Nolwenn Jean-Marçais; Martin Chevarin; Thibaud Jouan; Charlotte Poë; Patrick Callier; Emilie Tisserand; Christophe Philippe; Frédéric Tran Mau Them; Yannis Duffourd; Laurence Faivre; Christel Thauvin-Robinet
Journal:  Eur J Hum Genet       Date:  2019-06-23       Impact factor: 4.246

2.  Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Authors:  Jillian P Casey; Paul A McGettigan; Fiona Healy; Claire Hogg; Alison Reynolds; Breandan N Kennedy; Sean Ennis; Dubhfeasa Slattery; Sally A Lynch
Journal:  Eur J Hum Genet       Date:  2014-05-14       Impact factor: 4.246

Review 3.  The essential role of primary cilia in cerebral cortical development and disorders.

Authors:  Siling Liu; Mia X Trupiano; Jeremy Simon; Jiami Guo; E S Anton
Journal:  Curr Top Dev Biol       Date:  2021-01-25       Impact factor: 4.897

4.  Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Authors:  Ingrid M Wentzensen; Jennifer J Johnston; John H Patton; John M Graham; Julie C Sapp; Leslie G Biesecker
Journal:  Hum Genome Var       Date:  2016-02-04

5.  Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

Authors:  Marta de Castro-Miró; Raul Tonda; Paula Escudero-Ferruz; Rosa Andrés; Andrés Mayor-Lorenzo; Joaquín Castro; Marcela Ciccioli; Daniel A Hidalgo; Juan José Rodríguez-Ezcurra; Jorge Farrando; Juan J Pérez-Santonja; Bru Cormand; Gemma Marfany; Roser Gonzàlez-Duarte
Journal:  PLoS One       Date:  2016-12-22       Impact factor: 3.240

6.  CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Authors:  Ennio Del Giudice; Marina Macca; Floriana Imperati; Alessandra D'Amico; Philippe Parent; Laurent Pasquier; Valerie Layet; Stanislas Lyonnet; Veronique Stamboul-Darmency; Christel Thauvin-Robinet; Brunella Franco
Journal:  Orphanet J Rare Dis       Date:  2014-05-10       Impact factor: 4.123

7.  An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.

Authors:  Sheena Sharma; Jennifer M Kalish; Ethan M Goldberg; Francis Jeshira Reynoso; Madhura Pradhan
Journal:  Case Rep Nephrol       Date:  2016-08-29

8.  The pig X and Y Chromosomes: structure, sequence, and evolution.

Authors:  Benjamin M Skinner; Carole A Sargent; Carol Churcher; Toby Hunt; Javier Herrero; Jane E Loveland; Matt Dunn; Sandra Louzada; Beiyuan Fu; William Chow; James Gilbert; Siobhan Austin-Guest; Kathryn Beal; Denise Carvalho-Silva; William Cheng; Daria Gordon; Darren Grafham; Matt Hardy; Jo Harley; Heidi Hauser; Philip Howden; Kerstin Howe; Kim Lachani; Peter J I Ellis; Daniel Kelly; Giselle Kerry; James Kerwin; Bee Ling Ng; Glen Threadgold; Thomas Wileman; Jonathan M D Wood; Fengtang Yang; Jen Harrow; Nabeel A Affara; Chris Tyler-Smith
Journal:  Genome Res       Date:  2015-11-11       Impact factor: 9.043

9.  A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.

Authors:  Masoud Dehghan Tezerjani; Reza Maroofian; Mohammad Yahya Vahidi Mehrjardi; Barry A Chioza; Shiva Zamaninejad; Seyed Mehdi Kalantar; Mahmoud Nori-Shadkam; Hamidreza Ghadimi; Emma L Baple; Andrew H Crosby; Mohammadreza Dehghani
Journal:  Iran J Public Health       Date:  2016-10       Impact factor: 1.429

Review 10.  The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Authors:  William B Hannah; Suzanne DeBrosse; BreAnna Kinghorn; Steven Strausbaugh; Moira L Aitken; Margaret Rosenfeld; Whitney E Wolf; Michael R Knowles; Maimoona A Zariwala
Journal:  Mol Genet Genomic Med       Date:  2019-08-01       Impact factor: 2.183
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