Literature DB >> 8317495

Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

V Juvonen, J Vilkki, P Aula, E Nikoskelainen, M L Savontaus.   

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Year:  1993        PMID： 8317495      PMCID： PMC1682246     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  15 in total

1.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

2.  X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.

Authors:  X D Bu; J I Rotter
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-15       Impact factor: 11.205

3.  Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.

Authors:  J Vilkki; M L Savontaus; E K Nikoskelainen
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

4.  Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

Authors:  I J Holt; D H Miller; A E Harding
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

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

Authors:  J D Chen; I Cox; M J Denton
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

6.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

7.  Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees.

Authors:  E K Nikoskelainen; M L Savontaus; O P Wanne; M J Katila; K U Nummelin
Journal:  Arch Ophthalmol       Date:  1987-05

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.

Authors:  M R Carvalho; B Müller; E Rötzer; T Berninger; G Kommerell; A Blankenagel; M L Savontaus; T Meitinger; B Lorenz
Journal:  Hum Hered       Date:  1992       Impact factor: 0.444

10.  Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

Authors:  M G Sweeney; M B Davis; A Lashwood; M Brockington; A Toscano; A E Harding
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
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  14 in total

1.  Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Authors:  Gavin Hudson; Sharon Keers; Patrick Yu-Wai-Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; Hubert J M Smeets; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2005-10-11       Impact factor: 11.025

2.  No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.

Authors:  R J Oostra; S Kemp; P A Bolhuis; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

Authors:  M Y Yen; H C Lee; J H Liu; Y H Wei
Journal:  Br J Ophthalmol       Date:  1996-01       Impact factor: 4.638

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

Authors:  R M Chalmers; M B Davis; M G Sweeney; N W Wood; A E Harding
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

5.  A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Authors:  J J Assink; N T Tijmes; J B ten Brink; R J Oostra; F C Riemslag; P T de Jong; A A Bergen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

Review 6.  Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.

Authors:  P Riordan-Eva; A E Harding
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

7.  Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.

Authors:  H Y Handoko; P J Wirapati; H A Sudoyo; M Sitepu; S Marzuki
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

8.  Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

Authors:  A E Harding; M G Sweeney; G G Govan; P Riordan-Eva
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

9.  Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.

Authors:  Yanli Ji; Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal:  Mol Vis       Date:  2010-03-11       Impact factor: 2.367

Review 10.  A review of primary hereditary optic neuropathies.

Authors:  M Votruba; S Aijaz; A T Moore
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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