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Select item 26354281.

MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Loncarevic, Vlatka Mejaski-Bosnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo D. Salpietro, Sabrina Signorini, Gilda Rita Stringini, Alain Verloes, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

Hum Mutat. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Hum Mutat. 2009 Feb; 30(2): E432–E442. doi: 10.1002/humu.20924

PMCID:: PMC2635428

Abstract Article PDF–347K

Select item 37279922.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110

PMCID:: PMC3727992

Abstract Article PDF–1.7M

Select item 35918393.

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Fatema Zahrani, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

Am J Hum Genet. 2013 Mar 7; 92(3): 387–391. doi: 10.1016/j.ajhg.2013.01.008

PMCID:: PMC3591839

Abstract Article PDF–596K

Select item 35019594.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass

J Med Genet. Author manuscript; available in PMC 2012 Nov 20.

Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249

PMCID:: PMC3501959

Abstract Article PDF–1.1M

Select item 33698965.

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome

Robertino Karlo Mateo, Royce Johnson, Ordan J. Lehmann

Mol Vis. 2012; 18: 1301–1311. Published online 2012 May 30.

PMCID:: PMC3369896

Abstract Article PDF–824K

Select item 30394996.

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi, Andreas Tzschach

Eur J Hum Genet. 2011 Jan; 19(1): 115–117. Published online 2010 Aug 11. doi: 10.1038/ejhg.2010.132

PMCID:: PMC3039499

Abstract Article PDF–230K

Select item 29859587.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans Hilger Ropers, Andreas Walter Kuss, Andreas Tzschach

Eur J Hum Genet. 2009 Jan; 17(1): 125–128. Published online 2008 Sep 10. doi: 10.1038/ejhg.2008.159

PMCID:: PMC2985958

Abstract Article PDF–178K

Select item 29011968.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

Manir Ali, Beatriz Buentello-Volante, Martin McKibbin, J. Alberto Rocha-Medina, Narcis Fernandez-Fuentes, Wilson Koga-Nakamura, Aruna Ashiq, Kamron Khan, Adam P. Booth, Grange Williams, Yasmin Raashid, Hussain Jafri, Aine Rice, Chris F. Inglehearn, Juan Carlos Zenteno

Mol Vis. 2010; 16: 1162–1168. Published online 2010 Jun 23.

PMCID:: PMC2901196

Abstract Article PDF–1.4M

Select item 27977589.

Clinical and molecular features of Joubert syndrome and related disorders

Melissa A. Parisi

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2009 Dec 24.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229

PMCID:: PMC2797758

Abstract Article PDF–1.3M

Select item 391800110.

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype

Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N Kennedy, SallyAnn Lynch, Andrew Green, Sean Ennis

Hum Mutat. Author manuscript; available in PMC 2014 Feb 7.

Published in final edited form as: Hum Mutat. 2011 Dec; 32(12): 1417–1426. Published online 2011 Sep 29. doi: 10.1002/humu.21590