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Items: 1 to 20 of 146

1.

The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.

Peeters K, Willekens D, Steyaert J, Fryns JP.

Genet Couns. 2008;19(1):1-14.

PMID:
18564496
2.

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
3.

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.

4.

Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years.

Kivitie-Kallio S, Larsen A, Kajasto K, Norio R.

Neuropediatrics. 1999 Aug;30(4):181-9.

PMID:
10569209
5.

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
6.

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG.

Eur J Hum Genet. 2006 May;14(5):543-8.

7.

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.

8.

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
9.

Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?

Kondoh T, Yamamoto T, Kono Y, Matsumoto T, Sugawara H, Matsumoto N, Moriuchi H.

Am J Med Genet. 2001 Jul 22;102(1):63-7.

PMID:
11471174
10.

[Clinical features of patients with the syndrome 47, XYY].

Davidenkova EF, Timofeev NN, Zakharov AM, Kulikov RI, Petrov IA.

Zh Nevropatol Psikhiatr Im S S Korsakova. 1974;74(9):1369-75. Russian. No abstract available.

PMID:
4422432
11.
12.

Cohen syndrome: essential features, natural history, and heterogeneity.

Kivitie-Kallio S, Norio R.

Am J Med Genet. 2001 Aug 1;102(2):125-35. Review.

PMID:
11477603
13.

Seckel syndrome associated with atrioventricular canal defect: a case report.

Ucar B, Kilic Z, Dinleyici EC, Yakut A, Dogruel N.

Clin Dysmorphol. 2004 Jan;13(1):53-5.

PMID:
15127771
14.

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.

15.

The Cohen syndrome: report of five new cases and a review of the literature.

Friedman E, Sack J.

J Craniofac Genet Dev Biol. 1982;2(3):193-200.

PMID:
7166592
16.

[Cohen's syndrome: non-causal association with vascular rings].

Pérez-Caballero Macarrón C, Lozano Giménez C, Quintana Castilla A, Aparicio Meix JM.

An Esp Pediatr. 2000 Mar;52(3):289-95. Review. Spanish.

PMID:
11003912
17.

Intrafamilial variation in Cohen syndrome.

Young ID, Moore JR.

J Med Genet. 1987 Aug;24(8):488-92.

18.

Genitopatellar syndrome: expanding the phenotype.

Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MS.

Am J Med Genet A. 2003 Sep 15;122A(1):80-3.

PMID:
12949978
19.

Cohen syndrome with acanthosis nigricans and insulin resistance.

Kumandaş S, Gümüş H, Kurtoğlu S, Elmas B, Kontaş O.

J Pediatr Endocrinol Metab. 2001 Jun;14(6):807-10.

PMID:
11453534
20.

Cohen syndrome: the clinical symptoms and stigmata at a young age.

Fryns JP, Legius E, Devriendt K, Meire F, Standaert L, Baten E, Van den Berghe H.

Clin Genet. 1996 May;49(5):237-41.

PMID:
8832131

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