PMC Articles for MedGen (Select 337527) - PMC

Select item 54974641.

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

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, Trine E Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns, Deborah J Morris-Rosendahl

Hum Mutat. Author manuscript; available in PMC 2017 Jul 5.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 237–247. Published online 2012 Oct 17. doi: 10.1002/humu.22224

PMCID:: PMC5497464

Abstract Article PDF–739K

Select item 34067592.

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

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

Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194

PMCID:: PMC3406759

Abstract Article PDF–218K

Select item 27565573.

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

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

Am J Hum Genet. 2009 Oct 9; 85(4): 465–481. doi: 10.1016/j.ajhg.2009.09.002

PMCID:: PMC2756557

Abstract Article PDF–2.7M

Select item 31935054.

Regional Selection Acting on the OFD1 Gene Family

Ti-Cheng Chang, Jessica L. Klabnik, Wan-Sheng Liu

PLoS One. 2011; 6(10): e26195. Published online 2011 Oct 14. doi: 10.1371/journal.pone.0026195

PMCID:: PMC3193505

Abstract Article PDF–557K

Select item 67323185.

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala

Mol Genet Genomic Med. 2019 Sep; 7(9): e911. Published online 2019 Aug 1. doi: 10.1002/mgg3.911

PMCID:: PMC6732318

Abstract Article PDF–762K

Select item 42542656.

Simpson-Golabi-Behmel syndrome types I and II

Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado, Pablo Lapunzina

Orphanet J Rare Dis. 2014; 9: 138. Published online 2014 Sep 20. doi: 10.1186/s13023-014-0138-0

PMCID:: PMC4254265

Abstract Article PDF–501K

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