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Items: 1 to 20 of 31

1.

Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.

Alpern M, Sack GH Jr, Krantz DH, Jenness J, Zhang H, Moser HW.

Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9494-8.

2.

Visual pigment gene changes in adrenoleukodystrophy.

Sack GH Jr, Morrell JC.

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

PMID:
8344786
3.

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.

Moser HW, Moser AE, Singh I, O'Neill BP.

Ann Neurol. 1984 Dec;16(6):628-41.

PMID:
6524872
4.

Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Drayna D, Davies K, Hartley D, Mandel JL, Camerino G, Williamson R, White R.

Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9.

5.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Feinberg AP, Vogelstein B.

Anal Biochem. 1983 Jul 1;132(1):6-13.

PMID:
6312838
6.

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al.

Am J Hum Genet. 1985 Mar;37(2):250-67.

7.

An electrophoretic karyotype for yeast.

Carle GF, Olson MV.

Proc Natl Acad Sci U S A. 1985 Jun;82(11):3756-60.

8.

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
9.

Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Emanuel BS.

Am J Hum Genet. 1988 Nov;43(5):575-8. No abstract available.

10.

Characterization of five partial deletions of the factor VIII gene.

Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH Jr.

Proc Natl Acad Sci U S A. 1987 Jun;84(11):3772-6.

11.

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U.

Nature. 1986 Jul 3-9;322(6074):73-7.

PMID:
3014348
12.

Fractionation of large mammalian DNA restriction fragments using vertical pulsed-field gradient gel electrophoresis.

Gardiner K, Laas W, Patterson D.

Somat Cell Mol Genet. 1986 Mar;12(2):185-95.

PMID:
3008351
13.

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian HH Jr, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJ, Fass DN, et al.

N Engl J Med. 1985 Oct 3;313(14):842-8.

PMID:
2993888
14.

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.

Nathans J, Thomas D, Hogness DS.

Science. 1986 Apr 11;232(4747):193-202.

PMID:
2937147
15.

Gene deletions in X-linked muscular dystrophy.

Lindlöf M, Kiuru A, Kääriäinen H, Kalimo H, Lang H, Pihko H, Rapola J, Somer H, Somer M, Savontaus ML, et al.

Am J Hum Genet. 1989 Apr;44(4):496-503.

16.

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry.

Drummond-Borg M, Deeb SS, Motulsky AG.

Proc Natl Acad Sci U S A. 1989 Feb;86(3):983-7.

17.

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.

18.

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
19.

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
20.

Molecular genetics of human blue cone monochromacy.

Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al.

Science. 1989 Aug 25;245(4920):831-8.

PMID:
2788922

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