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Items: 10

1.

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.

2.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.

Clin Exp Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2.

PMID:
25060287
3.

Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome.

Cokkinos P, Gkouziouta A, Karavolias G, Kariofillis P, Voudris V.

Hellenic J Cardiol. 2013 Mar-Apr;54(2):143-6.

4.

Congenital neuroblastoma: an autopsy report.

Gupta K, Bansal A.

Fetal Pediatr Pathol. 2012 Oct;31(5):331-5. doi: 10.3109/15513815.2012.659395. Epub 2012 Mar 20.

PMID:
22432426
5.

Ophthalmic findings in the Greek isolate of Cohen syndrome.

Douzgou S, Samples JR, Georgoudi N, Petersen MB.

Am J Med Genet A. 2011 Mar;155A(3):534-9. doi: 10.1002/ajmg.a.33797. Epub 2011 Feb 22.

PMID:
21344628
6.

Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22.

Summanen P, Kivitie-Kallio S, Norio R, Raitta C, Kivelä T.

Invest Ophthalmol Vis Sci. 2002 May;43(5):1686-93.

PMID:
11980891
7.

Ophthalmologic findings in Cohen syndrome. A long-term follow-up.

Kivitie-Kallio S, Summanen P, Raitta C, Norio R.

Ophthalmology. 2000 Sep;107(9):1737-45.

PMID:
10964838
8.

Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report.

Vinay S, Andreas R, Bernhard ZE, Gerhardt S.

J Foot Ankle Surg. 2000 Mar-Apr;39(2):131-5.

PMID:
10789105
9.

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
10.

The Cohen syndrome.

Fryns JP, Van den Berghe H.

J Genet Hum. 1981 Dec;29(4):449-53.

PMID:
7328419

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