Literature DB >> 11950863

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

A Rakkolainen, S Ala-Mello, P Kristo, A Orpana, I Järvelä.   

Abstract

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Year:  2002        PMID： 11950863      PMCID： PMC1735103          DOI： 10.1136/jmg.39.4.292

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Authors:  Takeshi Morisawa; Mariko Yagi; Agus Surono; Naoki Yokoyama; Makoto Ohmori; Hiroto Terashi; Masafumi Matsuo
Journal:  Hum Genet       Date:  2004-06-02       Impact factor: 4.132

2.  Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Authors:  C Thauvin-Robinet; M Cossée; V Cormier-Daire; L Van Maldergem; A Toutain; Y Alembik; E Bieth; V Layet; P Parent; A David; A Goldenberg; G Mortier; D Héron; P Sagot; A M Bouvier; F Huet; V Cusin; A Donzel; D Devys; J R Teyssier; L Faivre
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

3.  A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Authors:  Bartlomiej Budny; Wei Chen; Heymut Omran; Manfred Fliegauf; Andreas Tzschach; Marzena Wisniewska; Lars R Jensen; Martine Raynaud; Sarah A Shoichet; Magda Badura; Steffen Lenzner; Anna Latos-Bielenska; Hans-Hilger Ropers
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

4.  Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Authors:  Tom R Webb; David A Parfitt; Jessica C Gardner; Ariadna Martinez; Dalila Bevilacqua; Alice E Davidson; Ilaria Zito; Dawn L Thiselton; Jacob H C Ressa; Marina Apergi; Nele Schwarz; Naheed Kanuga; Michel Michaelides; Michael E Cheetham; Michael B Gorin; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2012-05-22       Impact factor: 6.150

5.  Ofd1, a human disease gene, regulates the length and distal structure of centrioles.

Authors:  Veena Singla; Miriam Romaguera-Ros; Jose Manuel Garcia-Verdugo; Jeremy F Reiter
Journal:  Dev Cell       Date:  2010-03-16       Impact factor: 12.270

6.  Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors:  Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal:  Hum Mutat       Date:  2012-10-17       Impact factor: 4.878

7.  Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Authors:  Edgar A Otto; Toby W Hurd; Rannar Airik; Moumita Chaki; Weibin Zhou; Corinne Stoetzel; Suresh B Patil; Shawn Levy; Amiya K Ghosh; Carlos A Murga-Zamalloa; Jeroen van Reeuwijk; Stef J F Letteboer; Liyun Sang; Rachel H Giles; Qin Liu; Karlien L M Coene; Alejandro Estrada-Cuzcano; Rob W J Collin; Heather M McLaughlin; Susanne Held; Jennifer M Kasanuki; Gokul Ramaswami; Jinny Conte; Irma Lopez; Joseph Washburn; James Macdonald; Jinghua Hu; Yukiko Yamashita; Eamonn R Maher; Lisa M Guay-Woodford; Hartmut P H Neumann; Nicholas Obermüller; Robert K Koenekoop; Carsten Bergmann; Xiaoshu Bei; Richard A Lewis; Nicholas Katsanis; Vanda Lopes; David S Williams; Robert H Lyons; Chi V Dang; Daniela A Brito; Mónica Bettencourt Dias; Xinmin Zhang; James D Cavalcoli; Gudrun Nürnberg; Peter Nürnberg; Eric A Pierce; Peter K Jackson; Corinne Antignac; Sophie Saunier; Ronald Roepman; Helene Dollfus; Hemant Khanna; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2010-09-12       Impact factor: 38.330

8.  OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Authors:  Karlien L M Coene; Ronald Roepman; Dan Doherty; Bushra Afroze; Hester Y Kroes; Stef J F Letteboer; Lock H Ngu; Bartlomiej Budny; Erwin van Wijk; Nicholas T Gorden; Malika Azhimi; Christel Thauvin-Robinet; Joris A Veltman; Mireille Boink; Tjitske Kleefstra; Frans P M Cremers; Hans van Bokhoven; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2009-10       Impact factor: 11.025

Review 9.  Mouse Models of Rare Craniofacial Disorders.

Authors:  Annita Achilleos; Paul A Trainor
Journal:  Curr Top Dev Biol       Date:  2015       Impact factor: 4.897

10.  Regional selection acting on the OFD1 gene family.

Authors:  Ti-Cheng Chang; Jessica L Klabnik; Wan-Sheng Liu
Journal:  PLoS One       Date:  2011-10-14       Impact factor: 3.240
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