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Results: 1 to 20 of 101

1.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S.

Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27.

PMID:
24281367
[PubMed - in process]
2.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S.

Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26.

PMID:
22284827
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature.

Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S.

Am J Med Genet A. 2014 Aug 12. doi: 10.1002/ajmg.a.36707. [Epub ahead of print]

PMID:
25115524
[PubMed - as supplied by publisher]
4.

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations.

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K.

JAMA Ophthalmol. 2014 Aug 14. doi: 10.1001/jamaophthalmol.2014.2814. [Epub ahead of print]

PMID:
25124931
[PubMed - as supplied by publisher]
5.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE.

Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552.

PMID:
20029458
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
7.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
8.

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Hazan F, Ostergaard P, Ozturk T, Kantekin E, Atlihan F, Jeffery S, Ozkinay F.

Am J Med Genet A. 2012 Jul;158A(7):1686-9. doi: 10.1002/ajmg.a.35371. Epub 2012 May 31.

PMID:
22653704
[PubMed - indexed for MEDLINE]
9.

Pitt-Hopkins Syndrome.

Peippo M, Ignatius J.

Mol Syndromol. 2012 Apr;2(3-5):171-180. Epub 2011 Dec 29.

PMID:
22670138
[PubMed]
Free PMC Article
10.

The microcephaly-lymphoedema syndrome: report of an additional family.

Kozma C, Scribanu N, Gersh E.

Clin Dysmorphol. 1996 Jan;5(1):49-54.

PMID:
8867659
[PubMed - indexed for MEDLINE]
11.

CASK-Related Disorders.

Moog U, Uyanik G, Kutsche K.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2013 Nov 26.

PMID:
24278995
[PubMed]
Books & Documents
12.

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C.

Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26.

PMID:
23621105
[PubMed - indexed for MEDLINE]
13.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.

Am J Hum Genet. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31.

PMID:
16380922
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH.

Orphanet J Rare Dis. 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. Review.

PMID:
21878110
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA.

Neurology. 2004 Apr 13;62(7):1120-6.

PMID:
15079011
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The molecular landscape of ASPM mutations in primary microcephaly.

Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG.

J Med Genet. 2009 Apr;46(4):249-53. doi: 10.1136/jmg.2008.062380. Epub 2008 Nov 21.

PMID:
19028728
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.

Liao C, Fu F, Li R, Yang WQ, Liao HY, Yan JR, Li J, Li SY, Yang X, Li DZ.

Eur J Med Genet. 2013 Sep;56(9):484-9. doi: 10.1016/j.ejmg.2013.06.008. Epub 2013 Jul 5.

PMID:
23832105
[PubMed - indexed for MEDLINE]
18.

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H.

Ophthalmology. 2006 Mar;113(3):483-488.e1.

PMID:
16513463
[PubMed - indexed for MEDLINE]
19.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D.

Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18.

PMID:
22452838
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG.

Am J Hum Genet. 2003 Nov;73(5):1170-7. Epub 2003 Oct 21.

PMID:
14574646
[PubMed - indexed for MEDLINE]
Free PMC Article

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