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Items: 14

1.

Testicular torsion in a patient with Cohen syndrome.

Yılmaz Ö, Yeşildal C, Malkoç E, Soydan H.

Turk J Urol. 2015 Mar;41(1):51-2. doi: 10.5152/tud.2015.27136.

2.

The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.

Ye Y, Carlsson G, Karlsson-Sjöberg JM, Borregaard N, Modéer TU, Andersson ML, Pütsep KL.

Sci Rep. 2015 Jun 29;5:11685. doi: 10.1038/srep11685.

3.

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.

4.

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD.

PLoS Genet. 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. eCollection 2014 Dec.

5.

Surgical treatment for kyphoscoliosis in Cohen syndrome.

Imagama S, Tsuji T, Ohara T, Katayama Y, Goto M, Ishiguro N, Kawakami N.

Nagoya J Med Sci. 2013 Aug;75(3-4):279-86. Review.

6.

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

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L.

Eur J Hum Genet. 2013 Jul;21(7):736-42. doi: 10.1038/ejhg.2012.251. Epub 2012 Nov 28.

7.

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P.

Mol Syndromol. 2012 Jun;3(1):30-33. Epub 2012 May 16.

8.

Cohen syndrome - a rare genetic cause of hypotonia in children.

Budisteanu M, Barca D, Chirieac SM, Magureanu S.

Maedica (Buchar). 2010 Jan;5(1):56-61.

9.

A canine model of Cohen syndrome: Trapped Neutrophil Syndrome.

Shearman JR, Wilton AN.

BMC Genomics. 2011 May 23;12:258. doi: 10.1186/1471-2164-12-258.

10.

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.

11.

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.

12.

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD.

Am J Hum Genet. 2004 Jul;75(1):122-7. Epub 2004 May 12.

13.

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.

Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE.

Am J Hum Genet. 2003 Jun;72(6):1359-69. Epub 2003 May 2.

14.

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

Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J.

J Med Genet. 2003 Apr;40(4):233-41.

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