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Items: 1 to 20 of 173

1.

Frequent alterations of visual pigment genes in adrenoleukodystrophy.

Aubourg PR, Sack GH Jr, Moser HW.

Am J Hum Genet. 1988 Mar;42(3):408-13.

2.

The red-green visual pigment gene region in adrenoleukodystrophy.

Aubourg P, Feil R, Guidoux S, Kaplan JC, Moser H, Kahn A, Mandel JL.

Am J Hum Genet. 1990 Mar;46(3):459-69.

3.

Visual pigment gene changes in adrenoleukodystrophy.

Sack GH Jr, Morrell JC.

Invest Ophthalmol Vis Sci. 1993 Aug;34(9):2634-7.

PMID:
8344786
4.

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.

Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL.

Am J Hum Genet. 1991 Dec;49(6):1361-71.

5.

Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe.

Berriche S, Turpin JC, Lucotte G.

J Neurol. 1988 Mar;235(4):234-5.

PMID:
2897431
6.

Tandem array of human visual pigment genes at Xq28.

Vollrath D, Nathans J, Davis RW.

Science. 1988 Jun 17;240(4859):1669-72.

PMID:
2837827
7.

Molecular genetics of inherited variation in human color vision.

Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS.

Science. 1986 Apr 11;232(4747):203-10.

PMID:
3485310
8.

Adrenoleukodystrophy: overlapping deletions point to a gene location in Xq28.

Sack GH Jr, Morrell JC.

Biochem Biophys Res Commun. 1993 Mar 31;191(3):955-60.

PMID:
8466536
9.

G6PD haplotypes spanning Xq28 from F8C to red/green color vision.

Filosa S, Calabrò V, Lania G, Vulliamy TJ, Brancati C, Tagarelli A, Luzzatto L, Martini G.

Genomics. 1993 Jul;17(1):6-14.

PMID:
8104869
10.

Linkage of adrenoleukodystrophy to a polymorphic DNA probe.

Aubourg PR, Sack GH Jr, Meyers DA, Lease JJ, Moser HW.

Ann Neurol. 1987 Apr;21(4):349-52.

PMID:
2883927
11.

Visual pigment gene structure and the severity of color vision defects.

Neitz J, Neitz M, Kainz PM.

Science. 1996 Nov 1;274(5288):801-4.

PMID:
8864125
12.

[Molecular genetics of adrenoleukodystrophy].

Kaneko K.

Nihon Rinsho. 1993 Sep;51(9):2359-63. Review. Japanese.

PMID:
8411713
13.

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J.

Hum Mutat. 2001;18(1):52-60.

PMID:
11438993
14.

Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family.

Willems PJ, Vits L, Wanders RJ, Coucke PJ, Van der Auwera BJ, Van Elsen AF, Raeymaekers P, Van Broeckhoven C, Schutgens RB, Dacremont G, et al.

Arch Neurol. 1990 Jun;47(6):665-9.

PMID:
2161209
15.

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies.

Deeb SS, Lindsey DT, Hibiya Y, Sanocki E, Winderickx J, Teller DY, Motulsky AG.

Am J Hum Genet. 1992 Oct;51(4):687-700.

16.

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

Djabali M, Mattei MG, Nguyen C, Roux D, Demengeot J, Denizot F, Moos M, Schachner M, Goridis C, Jordan BR.

Genomics. 1990 Aug;7(4):587-93.

PMID:
2387585
17.

Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.

Sack GH Jr, Alpern M, Webster T, Feil RP, Morrell JC, Chen G, Chen W, Caskey CT, Moser HW.

Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9489-93.

18.

X-linked adrenoleukodystrophy gene: identification of a candidate gene by positional cloning.

Douar AM, Mosser J, Sarde CO, Lopez J, Mandel JL, Aubourg P.

Biomed Pharmacother. 1994;48(5-6):215-8.

PMID:
7999981
19.

A new mechanism in blue cone monochromatism.

Ladekjaer-Mikkelsen AS, Rosenberg T, Jørgensen AL.

Hum Genet. 1996 Oct;98(4):403-8.

PMID:
8792812
20.

Genomic organization of the adrenoleukodystrophy gene.

Sarde CO, Mosser J, Kioschis P, Kretz C, Vicaire S, Aubourg P, Poustka A, Mandel JL.

Genomics. 1994 Jul 1;22(1):13-20.

PMID:
7959759

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