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Items: 1 to 20 of 324

1.

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.

Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR.

Hum Mutat. 2009 Sep;30(9):E845-54. doi: 10.1002/humu.21065.

PMID:
19533689
2.

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D.

Am J Hum Genet. 2004 Jul;75(1):138-45. Epub 2004 May 20.

3.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L.

J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028.

PMID:
20656880
4.

Cohen syndrome diagnosis using whole genome arrays.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M.

J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4.

PMID:
20921020
5.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D.

Hum Mutat. 2009 Feb;30(2):E404-20. doi: 10.1002/humu.20886.

PMID:
19006247
6.

Cohen syndrome in the Ohio Amish.

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML.

Am J Med Genet A. 2004 Jul 1;128A(1):23-8.

PMID:
15211651
7.

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB.

Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239.

PMID:
18655112
8.

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

Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.

Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12.

9.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I.

J Hum Genet. 2007;52(12):1011-7. Epub 2007 Nov 8. Erratum in: J Hum Genet. 2008 Mar;53(3):285.

PMID:
17990063
10.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L.

BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0.

11.

Clinical variability of genetic isolates of Cohen syndrome.

Douzgou S, Petersen MB.

Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7. Review.

PMID:
21418059
12.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C.

Am J Med Genet A. 2014 Feb;164A(2):522-7. doi: 10.1002/ajmg.a.36300. Epub 2013 Dec 5.

PMID:
24311531
13.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

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

J Med Genet. 2006 May;43(5):e22.

14.

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ.

Eur J Hum Genet. 2009 Aug;17(8):1076-9. doi: 10.1038/ejhg.2008.273. Epub 2009 Feb 4.

15.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

16.

COH1 analysis and linkage study in two Japanese families with Cohen syndrome.

Kondo I, Shimizu A, Asakawa S, Miyamoto K, Yamagata H, Tabara Y, Shimizu N.

Clin Genet. 2005 Mar;67(3):270-2. No abstract available.

PMID:
15691367
17.

MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.

Kivitie-Kallio S, Autti T, Salonen O, Norio R.

Neuropediatrics. 1998 Dec;29(6):298-301.

PMID:
10029348
18.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PMID:
16053902
19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
20.

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.

Am J Med Genet A. 2006 Jun 1;140(11):1223-7.

PMID:
16688751

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