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Items: 8

1.

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A.

Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. No abstract available.

PMID:
17546652
2.

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M.

Pediatr Neurol. 2014 Dec;51(6):806-813.e8. doi: 10.1016/j.pediatrneurol.2014.08.025. Epub 2014 Sep 4. Review.

3.

Proteus syndrome: clinical evidence for somatic mosaicism and selective review.

Cohen MM Jr.

Am J Med Genet. 1993 Oct 1;47(5):645-52. Review.

PMID:
8266991
4.

Mutations in collagen 18A1 and their relevance to the human phenotype.

Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR.

An Acad Bras Cienc. 2006 Mar;78(1):123-31. Epub 2006 Mar 8. Review.

5.

Central nervous system malformations in oral-facial-digital syndrome, type 1.

Holub M, Potocki L, Bodamer OA.

Am J Med Genet A. 2005 Jul 15;136(2):218. Review. No abstract available.

PMID:
15942947
6.

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

Hsueh YP.

Ann Neurol. 2009 Oct;66(4):438-43. doi: 10.1002/ana.21755. Review.

PMID:
19847910
7.

[Focal heterotopia].

Aso K, Watanabe K.

Ryoikibetsu Shokogun Shirizu. 2000;(28 Pt 3):477-83. Review. Japanese. No abstract available.

PMID:
11043301
8.

[Lissencephaly syndrome].

Izumikawa Y.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):115-6. Review. Japanese. No abstract available.

PMID:
11528647

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