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Items: 10

1.

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.

2.

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
3.

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
4.

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL.

Hum Mutat. 2000 Dec;16(6):509-17. Review.

PMID:
11102980
5.

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

Orphanet J Rare Dis. 2007 Oct 24;2:42. Review.

6.

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA.

Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Review.

PMID:
24194475
7.

Unmasking Kabuki syndrome.

Bögershausen N, Wollnik B.

Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26. Review.

PMID:
23131014
8.

Myhre syndrome.

Le Goff C, Michot C, Cormier-Daire V.

Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Review.

PMID:
24580733
9.

The ARID1B phenotype: what we have learned so far.

Santen GW, Clayton-Smith J; ARID1B-CSS consortium.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):276-89. doi: 10.1002/ajmg.c.31414. Epub 2014 Aug 28. Review.

PMID:
25169814
10.

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.

Cole DE, Thompson MD.

Subcell Biochem. 2015;76:343-61. doi: 10.1007/978-94-017-7197-9_16. Review.

PMID:
26219719

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