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Results: 1 to 20 of 89

1.

Genetics for the ophthalmologist.

Sadagopan KA, Capasso J, Levin AV.

Oman J Ophthalmol. 2012 Sep;5(3):144-9. doi: 10.4103/0974-620X.106092.

PMID:
23439654
[PubMed]
Free PMC Article
2.

Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection.

Shaikh S, Ta C, Basham AA, Mansour S.

Am J Ophthalmol. 2001 Jan;131(1):143-5.

PMID:
11162998
[PubMed - indexed for MEDLINE]
3.

[Important progress for the ophthalmologist in basic genetic research].

Fuhrmann W.

Fortschr Ophthalmol. 1989;86(2):151-6. Review. German.

PMID:
2567690
[PubMed - indexed for MEDLINE]
4.
5.

A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.

Katz BJ, Zhao Y, Warner JE, Tong Z, Yang Z, Zhang K.

Am J Med Genet A. 2006 Oct 15;140(20):2207-11.

PMID:
16969871
[PubMed - indexed for MEDLINE]
6.

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.

Mol Vis. 2007 Dec 21;13:2339-43.

PMID:
18199976
[PubMed - indexed for MEDLINE]
Free Article
7.

X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.

Pegoraro E, Vettori A, Valentino ML, Molon A, Mostacciuolo ML, Howell N, Carelli V.

Am J Med Genet A. 2003 May 15;119A(1):37-40.

PMID:
12707956
[PubMed - indexed for MEDLINE]
8.

Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.

Chen JD, Cox I, Denton MJ.

Hum Genet. 1989 Jun;82(3):203-7.

PMID:
2731932
[PubMed - indexed for MEDLINE]
9.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
[PubMed - indexed for MEDLINE]
10.

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.

Rudolph G, Meindl A, Bechmann M, Schworm HD, Achatz H, Boergen KP, Kampik A, Berninger T, Meitinger T.

Graefes Arch Clin Exp Ophthalmol. 2001 Mar;239(3):167-72.

PMID:
11405065
[PubMed - indexed for MEDLINE]
11.

Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician.

Ensenauer RE, Reinke SS, Ackerman MJ, Tester DJ, Whiteman DA, Tefferi A.

Mayo Clin Proc. 2003 Jul;78(7):846-57. Review.

PMID:
12839081
[PubMed - indexed for MEDLINE]
12.

American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

American Society of Clinical Oncology.

J Clin Oncol. 2003 Jun 15;21(12):2397-406. Epub 2003 Apr 11.

PMID:
12692171
[PubMed - indexed for MEDLINE]
Free Article
13.

[Mutations in mitochondrial DNA in ocular diseases--Leher's hereditary optic neuropathy and Kearns' syndrome].

Rydzanicz M, Mrugacz M, Gajecka M.

Klin Oczna. 2008;110(7-9):321-4. Review. Polish.

PMID:
19112871
[PubMed - indexed for MEDLINE]
14.

Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Preising M, Op de Laak JP, Lorenz B.

Br J Ophthalmol. 2001 Sep;85(9):1098-103.

PMID:
11520764
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis.

Onadim Z, Hykin PG, Hungerford JL, Cowell JK.

Br J Ophthalmol. 1991 Mar;75(3):147-50.

PMID:
2012779
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.

Mashima Y, Saga M, Hiida Y, Imamura Y, Kudoh J, Shimizu N.

Am J Ophthalmol. 2000 Sep;130(3):357-9.

PMID:
11020419
[PubMed - indexed for MEDLINE]
17.

Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report.

Hayakawa M, Kato K, Nakajima A, Yoshiike T, Ogawa H.

Ophthalmic Paediatr Genet. 1986 Aug;7(2):109-14.

PMID:
3785879
[PubMed - indexed for MEDLINE]
18.

Mitochondrial mutations in neuro-ophthalmological diseases. A review.

Morris MA.

J Clin Neuroophthalmol. 1990 Sep;10(3):159-66. Review.

PMID:
2144533
[PubMed - indexed for MEDLINE]
19.

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM.

Ophthalmic Genet. 2008 Mar;29(1):17-24. doi: 10.1080/13816810701867607.

PMID:
18363168
[PubMed - indexed for MEDLINE]
20.

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE.

Am J Hum Genet. 1996 Jul;59(1):103-8.

PMID:
8659512
[PubMed - indexed for MEDLINE]
Free PMC Article

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