PMC Links for Books (Select 1485914) - PMC

Select item 43262491.

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjorg Stray-Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey Reid, Matthew Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

JAMA. Author manuscript; available in PMC 2015 Feb 12.

Published in final edited form as: JAMA. 2014 Nov 12; 312(18): 1870–1879. doi: 10.1001/jama.2014.14601

PMCID:: PMC4326249

Abstract Article PDF–237K

Select item 43190062.

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke

J Biol Chem. 2015 Feb 6; 290(6): 3349–3358. Published online 2014 Dec 9. doi: 10.1074/jbc.M114.608174

PMCID:: PMC4319006

Abstract Article PDF–2.8M

Select item 37229493.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, Anne Moncla, Anne-Marie Frances, Marlène Rio, François-Guillaume Debray, Patrick Rump, Alice Masurel-Paulet, Nadège Gigot, Patrick Callier, Laurence Duplomb, Bernard Aral, Frédéric Huet, Christel Thauvin-Robinet, Laurence Faivre

Eur J Hum Genet. 2013 Jul; 21(7): 736–742. Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.251

PMCID:: PMC3722949

Abstract Article PDF–2.3M

Select item 31995104.

Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Denise Horn, Volker Haucke, Hans Christian Hennies

J Biol Chem. 2011 Oct 28; 286(43): 37665–37675. Published online 2011 Aug 24. doi: 10.1074/jbc.M111.267971

PMCID:: PMC3199510

Abstract Article PDF–4.2M

Select item 29874535.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

Veronica Parri, Eleni Katzaki, Vera Uliana, Francesca Scionti, Rossella Tita, Rosangela Artuso, Ilaria Longo, Renske Boschloo, Raymon Vijzelaar, Angelo Selicorni, Francesco Brancati, Bruno Dallapiccola, Leopoldo Zelante, Christian P Hamel, Pierre Sarda, Seema R Lalani, Rita Grasso, Sabrina Buoni, Joussef Hayek, Laurent Servais, Bert B A de Vries, Nelly Georgoudi, Sheena Nakou, Michael B Petersen, Francesca Mari, Alessandra Renieri, Francesca Ariani

Eur J Hum Genet. 2010 Oct; 18(10): 1133–1140. Published online 2010 May 12. doi: 10.1038/ejhg.2010.59

PMCID:: PMC2987453

Abstract Article PDF–621K

Select item 25645276.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

W Seifert, M Holder‐Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, D Horn

J Med Genet. 2006 May; 43(5): e22. doi: 10.1136/jmg.2005.039867

PMCID:: PMC2564527

Abstract Article PDF–1.0M

Select item 17713827.

The ophthalmic findings in Cohen syndrome

K E Chandler, S Biswas, I C Lloyd, N Parry, J Clayton-Smith, G C M Black

Br J Ophthalmol. 2002 Dec; 86(12): 1395–1398. doi: 10.1136/bjo.86.12.1395

PMCID:: PMC1771382

Abstract Article PDF–149K

Select item 17357968.

Broader geographical spectrum of Cohen syndrome due to COH1 mutations

G Mochida, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia, P Sarda, J Ishihara, A Bodell, K Apse, C Walsh

J Med Genet. 2004 Jun; 41(6): e87. doi: 10.1136/jmg.2003.014779

PMCID:: PMC1735796

Summary PDF–304K

Select item 17354139.

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

K Chandler, A Kidd, L Al-Gazali, J Kolehmainen, A Lehesjoki, G Black, J Clayton-Smith

J Med Genet. 2003 Apr; 40(4): 233–241. doi: 10.1136/jmg.40.4.233

PMCID:: PMC1735413

Summary PDF–270K

Select item 146902410.

Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

S A Mirhosseini, L B Holmes, D S Walton

J Med Genet. 1972 Jun; 9(2): 193–196. doi: 10.1136/jmg.9.2.193

PMCID:: PMC1469024

Summary Page Browse PDF–1.0M

Select item 118199711.

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Giugliani, Thomas E. Neumann, Katja M. Eckl, Mohsen Karbasiyan, André Reis, Denise Horn

Am J Hum Genet. 2004 Jul; 75(1): 138–145. Published online 2004 May 20. doi: 10.1086/422219

PMCID:: PMC1181997

Abstract Article PDF–343K

Select item 118199512.

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I. Traboulsi, Mette Warburg, Jean-Pierre Fryns, Reijo Norio, Graeme C. M. Black, Forbes D. C. Manson

Am J Hum Genet. 2004 Jul; 75(1): 122–127. Published online 2004 May 12. doi: 10.1086/422197

PMCID:: PMC1181995

Abstract Article PDF–153K

Select item 118029813.

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. M. Black, Anne Saarinen, Kate Chandler, Jill Clayton-Smith, Ann-Liz Träskelin, Rahat Perveen, Satu Kivitie-Kallio, Reijo Norio, Mette Warburg, Jean-Pierre Fryns, Albert de la Chapelle, Anna-Elina Lehesjoki

Am J Hum Genet. 2003 Jun; 72(6): 1359–1369. Published online 2003 May 2. doi: 10.1086/375454

PMCID:: PMC1180298

Abstract Article PDF–710K

Select item 101674814.

Growth hormone deficiency in a girl with the Cohen syndrome.

G Massa, L Dooms, M Vanderschueren-Lodeweyckx

J Med Genet. 1991 Jan; 28(1): 48–50. doi: 10.1136/jmg.28.1.48

PMCID:: PMC1016748

Summary Page Browse PDF–439K

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