Volume 10; Issue 1

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Nature Genetics
Volume 10; Issue 1

Nature Genetics

Volume 10; Issue 1

1

Challenging genomic integrity

Journal:

Nature Genetics

Year:

1995

File:

PDF, 241 KB

1995

2

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

Trottier, Yvon, Devys, Didier, Imbert, Georges, Saudou, Frédéric, An, Isabelle, Lutz, Yves, Weber, Chantal, Agid, Yves, Hirsch, Etienne C., Mandel, Jean-Louis

Journal:

Nature Genetics

Year:

1995

File:

PDF, 1018 KB

1995

3

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Rousseau, Francis, Saugier, Pascale, Merrer, Martine Le, Munnich, Arnold, Delezoide, Anne-Lise, Maroteaux, Pierre, Bonaventure, Jacky, Narcy, Françoise, Sanak, Marek

Journal:

Nature Genetics

Year:

1995

File:

PDF, 394 KB

1995

4

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., den Heijer, M., Kluijtmans, L.A.J., van den Heuve, L.P., Frosst, P.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 442 KB

1995

5

Mutations associated with familial melanoma impair p16INK4 function

Ranade, Koustubh, Hussussian, Christopher J., Sikorski, Robert S., Varmus, Harold E., Goldstein, Alisa M., Tucker, Margaret A., Serrano, Manuel, Hannon, Gregory J., Beach, David, Dracopoli, Nicholas C

Journal:

Nature Genetics

Year:

1995

File:

PDF, 435 KB

1995

6

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2

Phillips, H.A., Scheffer, I.E., Berkovic, S.F., Hollway, G.E., Sutherland, G.R., Mulley, J.C.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 219 KB

1995

7

Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A

Bi, L., Lawler, A.M., Antonarakis, S.E., High, K.A., Gearhart, J.D., Kazazian, H.H.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 448 KB

1995

8

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Bassi, Maria T., Schiaffino, M. Vittoria, Renieri, Alessandra, Nigris, Filomena De, Galli, Lucia, Bruttini, Mirella, Gebbia, Marinella, Bergen, Arthur A.B., Lewis, Richard A., Ballabio, Andrea

Journal:

Nature Genetics

Year:

1995

File:

PDF, 870 KB

1995

9

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis

Reymer, Paul W.A., Gagné, Eric, Groenemeyer, Bjorn E., Zhang, Hanfang, Forsyth, Ian, Jansen, Hans, Seidell, Jaap C., Kromhout, Daan, Lie, Kong E., Kastelein, Johannes

Journal:

Nature Genetics

Year:

1995

File:

PDF, 608 KB

1995

10

Gain of glutamines, gain of function?

Journal:

Nature Genetics

Year:

1995

File:

PDF, 263 KB

1995

11

Loss of function effect of RET mutations causing Hirschsprung disease

Pasini, Barbara, Borrello, Maria Grazia, Greco, Angela, Bongarzone, Italia, Luo, Yin, Mondellini, Piera, Alberti, Luisella, Miranda, Claudia, Arighi, Elena, Bocciardi, Renata

Journal:

Nature Genetics

Year:

1995

File:

PDF, 790 KB

1995

12

Partial epilepsy: chinks in the armour

Ryan, Stephen G.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 468 KB

1995

13

Evidence for a susceptibility locus for schizophrenia on chromosome 6pter–p22

Wang, Shengbiao, Sun, Cui-e, Walczak, Cynthia A., Ziegle, Janet S., Kipps, Barbara R., Goldin, Lynn R., Diehl, Scott R.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 595 KB

1995

14

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination

Enriquez, José Antonio, Chomyn, Anne, Attardi, Giuseppe

Journal:

Nature Genetics

Year:

1995

File:

PDF, 1.09 MB

1995

15

Localization of a gene for partial epilepsy to chromosome 10q

Ottman, Ruth, Risch, Neil, Hauser, W. Allen, Pedley, Timothy A., Lee, Joseph H., Barker-Cummings, Christie, Lustenberger, Anita, Nagle, Keith J., Lee, Kyusang S., Scheuer, Mark L.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 478 KB

1995

16

The low down on lipoprotein lipase

Funke, Harald, Assmann, Gerd

Journal:

Nature Genetics

Year:

1995

File:

PDF, 292 KB

1995

17

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

Andersen, Peter M., Nilsson, Peter, Ala-Hurula, Veli, Keränen, Marja-Leena, Tarvainen, Ilkka, Haltia, Tuula, Nilsson, Lotta, Binzer, Michael, Forsgren, Lars, Marklund, Stefan L.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 551 KB

1995

18

Comparative sequence analysis of the human and pufferfish Huntington's disease genes

Baxendale, Sarah, Abdulla, Sarah, Elgar, Greg, Buck, David, Berks, Mary, Micklem, Gos, Durbin, Richard, Bates, Gill, Brenner, Sydney, Beck, Stephan

Journal:

Nature Genetics

Year:

1995

File:

PDF, 1.42 MB

1995

19

The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neurons

Hirotsune, S., Takahara, T., Sasaki, N., Hirose, K., Yoshiki, A., Ohashi, T., Kusakabe, M., Murakami, Y., Muramatsu, M., Watanabe, S.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 910 KB

1995

20

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

Benomar, A., Krols, L., Stevanin, G., Cancel, G., LeGuern, E., David, G., Ouhabi, H., Martin, J.-J., Dürr, A., Zaim, A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 421 KB

1995

21

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Gouw, Launce G., Kaplan, Craig D., Haines, John H., Digre, Kathleen B., Rutledge, S. Lane, Matilla, Antoni, Leppert, Mark, Zoghbi, Huda Y., Ptácek, Louis J.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 460 KB

1995

22

Nemaline myopathy mechanisms

Reinach, Fernando C.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 113 KB

1995

23

Linkage findings in bipolar disorder

Gurling, Hugh, Smyth, Ciaran, Kalsi, Gursharan, Moloney, Eamon, Rifkin, Larry, O'Neill, Jane, Murphy, Patrice, Curtis, David, Petursson, Hannes, Brynjolfsson, Jon

Journal:

Nature Genetics

Year:

1995

File:

PDF, 214 KB

1995

24

Single–minded and Down syndrome?

Chen, Haiming, Chrast, Roman, Rossier, Colette, Gos, Arnaud, Antonarakis, Stylianos E., Kudoh, Jun, Yamaki, Akiko, Shindoh, Nobuaki, Maeda, Hideto, Minoshima, Shinsei

Journal:

Nature Genetics

Year:

1995

File:

PDF, 316 KB

1995

25

Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

Servadio, Antonio, Koshy, Beena, Armstrong, Dawna, Antalffy, Barbara, Orr, Harry T., Zoghbi, Huda Y.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 705 KB

1995

26

Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain

Yazawa, Ikuru, Nukina, Nobuyuki, Hashida, Hideji, Goto, Jun, Yamada, Masao, Kanazawa, Ichiro

Journal:

Nature Genetics

Year:

1995

File:

PDF, 716 KB

1995

27

CpNpG methylation in mammalian cells

Clark, Susan J., Harrison, Janet, Frommer, Marianne

Journal:

Nature Genetics

Year:

1995

File:

PDF, 959 KB

1995