PMC Links for OMIM (Select 604202) - PMC

Select item 81058871.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi

Neurol Genet. 2021 Feb; 7(1): e553. Published online 2021 Jan 12. doi: 10.1212/NXG.0000000000000553

PMCID:: PMC8105887

Article PDF–627K

Select item 67890412.

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

Vafa Keser, Jean-François Boisclair Lachance, Sabrina Shameen Alam, Youngshin Lim, Eleonora Scarlata, Apinder Kaur, Tian Fang Zhang, Shasha Lv, Pierre Lachapelle, Cristian O’Flaherty, Jeffrey A. Golden, Loydie A. Jerome-Majewska

Commun Biol. 2019; 2: 375. Published online 2019 Oct 11. doi: 10.1038/s42003-019-0601-5

PMCID:: PMC6789041

Article PDF–2.2M

Select item 53846763.

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Christine P. Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H. Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E. Hayward, Ian M. Carr, Christopher M. Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P. Louise Coletta, Alexander F. Markham, T. Neil Dear, David T. Bonthron, Michelle Peckham, Ewan E. Morrison, Eamonn Sheridan

PLoS One. 2017; 12(4): e0174264. Published online 2017 Apr 7. doi: 10.1371/journal.pone.0174264

PMCID:: PMC5384676

Article PDF–1.1M

Select item 47040904.

A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation

Salma Ben-Salem, Sobreira Nara, Aisha M. Al-Shamsi, David Valle, Bassam R. Ali, Lihadh Al-Gazali

J Dermatol. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: J Dermatol. 2015 Aug; 42(8): 821–822. Published online 2015 May 11. doi: 10.1111/1346-8138.12917

PMCID:: PMC4704090

Article PDF–155K

Select item 27758395.

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

Mohammad R. Abdollahi, Ewan Morrison, Tamara Sirey, Zoltan Molnar, Bruce E. Hayward, Ian M. Carr, Kelly Springell, C. Geoff Woods, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Daniela T. Pilz, Neil Stoodley, Yanick Crow, Graham R. Taylor, David T. Bonthron, Eamonn Sheridan

Am J Hum Genet. 2009 Nov 13; 85(5): 737–744. doi: 10.1016/j.ajhg.2009.10.007

PMCID:: PMC2775839

Article PDF–1.1M

Select item 12245276.

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J. O’Brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel

Am J Hum Genet. 2005 Aug; 77(2): 242–251. Published online 2005 Jun 20. doi: 10.1086/432556

PMCID:: PMC1224527

Article PDF–3.5M

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