Literature DB >> 19610098

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.

Christel Thauvin-Robinet1, Patrick Callier, Brunella Franco, Orsetta Zuffardi, Muriel Payet, Bernard Aral, Nadège Gigot, Anne Donzel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Frédéric Huet, Jean-Raymond Teyssier, Francine Mugneret, Laurence Faivre.   

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Year:  2009        PMID： 19610098     DOI： 10.1002/ajmg.a.32981

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  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

2.  Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

Authors:  Carla A M Lopes; Suzanna L Prosser; Leila Romio; Robert A Hirst; Chris O'Callaghan; Adrian S Woolf; Andrew M Fry
Journal:  J Cell Sci       Date:  2011-01-25       Impact factor: 5.285

3.  Oral-Facial-Digital Syndrome Type 1: A Case Report and Review.

Authors:  Young Wook Ko; Joo Yeon Ko; Young Suck Ro; Jeong Eun Kim
Journal:  Ann Dermatol       Date:  2022-03-24       Impact factor: 1.444

Review 4.  Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Authors:  Ange-Line Bruel; Brunella Franco; Yannis Duffourd; Julien Thevenon; Laurence Jego; Estelle Lopez; Jean-François Deleuze; Diane Doummar; Rachel H Giles; Colin A Johnson; Martijn A Huynen; Véronique Chevrier; Lydie Burglen; Manuela Morleo; Isabelle Desguerres; Geneviève Pierquin; Bérénice Doray; Brigitte Gilbert-Dussardier; Bruno Reversade; Elisabeth Steichen-Gersdorf; Clarisse Baumann; Inusha Panigrahi; Anne Fargeot-Espaliat; Anne Dieux; Albert David; Alice Goldenberg; Ernie Bongers; Dominique Gaillard; Jesús Argente; Bernard Aral; Nadège Gigot; Judith St-Onge; Daniel Birnbaum; Shubha R Phadke; Valérie Cormier-Daire; Thibaut Eguether; Gregory J Pazour; Vicente Herranz-Pérez; Jaclyn S Goldstein; Laurent Pasquier; Philippe Loget; Sophie Saunier; André Mégarbané; Olivier Rosnet; Michel R Leroux; John B Wallingford; Oliver E Blacque; Maxence V Nachury; Tania Attie-Bitach; Jean-Baptiste Rivière; Laurence Faivre; Christel Thauvin-Robinet
Journal:  J Med Genet       Date:  2017-03-13       Impact factor: 6.318
  4 in total

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