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Volume 13; Issue 1
Main
Nature Genetics
Volume 13; Issue 1
Nature Genetics
Volume 13; Issue 1
1
Capitalizing on the genome
Journal:
Nature Genetics
Year:
1996
File:
PDF, 453 KB
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1996
2
The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3
Nicholson, Garth A.
,
Dawkins, Jennifer L.
,
Blair, Ian P.
,
Kennerson, Marina L.
,
Gordon, Melissa J.
,
Cherryson, Annia K.
,
Nash, Janet
,
Bananis, Tessy
Journal:
Nature Genetics
Year:
1996
File:
PDF, 422 KB
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1996
3
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, Jozef
,
Gedeon, Agi K.
,
Sutherland, Grant R.
,
Mulley, John C.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 508 KB
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1996
4
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
Gu, Yanghong
,
Shen, Ying
,
Gibbs, Richard A.
,
Nelson, David L.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 768 KB
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1996
5
DNA helicases: the long unwinding road
Tuteja, Narendra
,
Tuteja, Renu
Journal:
Nature Genetics
Year:
1996
File:
PDF, 322 KB
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1996
6
Localization of the gene for Cowden disease to chromosome 10q22–23
Nelen, M.R.
,
Padberg, G.W.
,
Peeters, E.A.J.
,
Lin, A.Y.
,
Helm, B. van den
,
Frants, R.R.
,
Goulon, V.
,
Goldstein, A.M.
,
Reen, M.M.M van
,
Eastern, D.F.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 420 KB
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1996
7
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes
Thorlacius, Steinunn
,
Olafsdottir, Gudridur
,
Tryggvadottir, Laufey
,
Neuhausen, Susan
,
Jonasson, Jon G.
,
Tavtigian, Sean V.
,
Tulinius, Hrafn
,
Ögmundsdottir, Helga M.
,
Eyfjörd, Jorunn E.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 271 KB
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1996
8
Mutation analysis of the BRCA2 gene in 49 site–specific breast cancer families
Phelan, Catherine M.
,
Lancaster, Johnathan M.
,
Tonin, Patricia
,
Gumbs, Curtis
,
Cochran, Charles
,
Carter, Ron
,
Ghadirian, Parviz
,
Perret, Chantal
,
Moslehi, Roxana
,
Dion, France
Journal:
Nature Genetics
Year:
1996
File:
PDF, 435 KB
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1996
9
BRCA2 germline mutations in male breast cancer cases and breast cancer families
Couch, Fergus J.
,
Farid, Linda M.
,
DeShano, Michelle L.
,
Tavtigian, Sean V.
,
Calzone, Kathleen
,
Campeau, Lisa
,
Peng, Yi
,
Bogden, Bert
,
Chen, Qian
,
Neuhausen, Susan
Journal:
Nature Genetics
Year:
1996
File:
PDF, 306 KB
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1996
10
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer
Neuhausen, Susan
,
Gilewski, Teresa
,
Norton, Larry
,
Tran, Thao
,
McGuire, Peter
,
Swensen, Jeff
,
Hampel, Heather
,
Borgen, Patrick
,
Brown, Karen
,
Skolnick, Mark
Journal:
Nature Genetics
Year:
1996
File:
PDF, 316 KB
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1996
11
Erratum: Modulation of disease severity in cystic f ibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
Journal:
Nature Genetics
Year:
1996
File:
PDF, 74 KB
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1996
12
Erratum: Schizophrenia susceptibility and chromosome 6p24-22
Journal:
Nature Genetics
Year:
1996
File:
PDF, 74 KB
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1996
13
Corrigendum: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux
Journal:
Nature Genetics
Year:
1996
File:
PDF, 74 KB
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1996
14
Touching base
Journal:
Nature Genetics
Year:
1996
File:
PDF, 154 KB
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1996
15
A landmark for orphan genomes?
Jacob, Howard J.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 280 KB
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1996
16
Breast cancer susceptibility testing: realities in the post–genomic era
Friend, Stephen H.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 386 KB
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1996
17
Leptin receptor missense mutation in the fatty Zucker rat
Phillips, Michael S.
,
Liu, Qingyun
,
Hammond, Holly A.
,
Dugan, Valarie
,
Hey, Patricia J.
,
Caskey, C. Thomas
,
Hess, J. Fred
Journal:
Nature Genetics
Year:
1996
File:
PDF, 306 KB
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1996
18
Chromosome–size dependent control of meiotic recombination in humans
Kaback, David B.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 190 KB
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1996
19
Menkes disease mutations and response to early copper histidine treatment
Kaler, Stephen G.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 260 KB
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1996
20
Internal repeats in the BRCA2 protein sequence
Bork, Peer
,
Blomberg, Niklas
,
Nilges, Michael
Journal:
Nature Genetics
Year:
1996
File:
PDF, 203 KB
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1996
21
Genetic analysis of ageing: role of oxidative damage and environmental stresses
Martin, George M.
,
Austad, Steven N.
,
Johnson, Thomas E.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 1.06 MB
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1996
22
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
Meindl, A.
,
Dry, K.
,
Herrmann, K.
,
Manson, E.
,
Ciccodicola, A.
,
Edgar, A.
,
Carvalho, M.R.S.
,
Achatz, H.
,
Hellebrand, H.
,
Lennon, A.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 1.32 MB
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1996
23
Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury
Reaume, Andrew. G.
,
Elliott, Jeffrey L.
,
Hoffman, Eric K.
,
Kowall, Neil W.
,
Ferrante, Robert J.
,
Siwek, Donald R
,
Wilcox, Heide M.
,
Flood, Dorothy G.
,
Beal, M. Flint
,
Brown, Robert H.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 693 KB
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1996
24
Exclusive paternal origin of new mutations in Apert syndrome
Moloney, Dominique M.
,
Slaney, Sarah R
,
Oldridge, Michael
,
Wall, Steven A.
,
Sahlin, Pelle
,
Stenman, Göran
,
Wilkie, Andrew O.M.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 680 KB
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1996
25
Effective treatment of familial hypercholesterolaemia in the mouse model using adenovirus–mediated transfer of the VLDL receptor gene
Kozarsky, Karen E.
,
Jooss, Karin
,
Donahee, Mary
,
Strauss, Jerome F.
,
Wilson, James M.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 1.01 MB
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1996
26
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
Poetter, Karl
,
Jiang, He
,
Hassanzadeh, Shahin
,
Master, Stephen R.
,
Chang, Anthony
,
Dalakas, Marinos C.
,
Rayment, Ivan
,
Sellers, James R.
,
Fananapazir, Lameh
,
Epstein, Neal D.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 904 KB
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1996
27
The South African malady
Jenkins, Trefor
Journal:
Nature Genetics
Year:
1996
File:
PDF, 195 KB
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1996
28
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
Maestrini, Elena
,
Monaco, Anthony P.
,
McGrath, John A.
,
Ishida-Yamamoto, Akemi
,
Camisa, Charles
,
Hovnanian, Alain
,
Weeks, Daniel E.
,
Lathrop, Mark
,
Uitto, Jouni
,
Christiano, Angela M.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 1.23 MB
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1996
29
High frequency de novo alterations in the long–range genomic structure of the mouse pseudoautosomal region
Kipling, David
,
Salido, Eduardo C.
,
Shapiro, Larry J.
,
Cooke, Howard J.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 707 KB
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1996
30
The Madness of King George
Journal:
Nature Genetics
Year:
1996
File:
PDF, 142 KB
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1996
31
Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts)
Salido, Eduardo C.
,
Li, Xiao M.
,
Yen, Pauline H.
,
Martin, Natalia
,
Mohandas, Thuluvancheri K.
,
Shapiro, Larry J.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 647 KB
Your tags:
1996
32
A genetic linkage map of the Syrian hamster and localization of cardiomyopathy locus on chromosome 9qa2.1–b1 using RLGS spot–mapping
Okazaki, Yasushi
,
Okuizumi, Hisato
,
Ohsumi, Tomoya
,
Nomura, Osamu
,
Takada, Shuji
,
Kamiya, Mamoru
,
Sasaki, Nobuya
,
Matsuda, Yoichi
,
Nishimura, Masahiko
,
Tagaya, Osamu
Journal:
Nature Genetics
Year:
1996
File:
PDF, 556 KB
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1996
33
A paternal wash in Apert sydrome
Sapienzav, Carmen
Journal:
Nature Genetics
Year:
1996
File:
PDF, 211 KB
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1996
34
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
Meissner, Peter N.
,
Dailey, Tamara A.
,
Hift, Richard J.
,
Ziman, Mel
,
Corrigall, Anne V.
,
Roberts, Andrew G.
,
Meissner, Doreen M.
,
Kirsch, Ralph E.
,
Dailey, Harry A.
Journal:
Nature Genetics
Year:
1996
File:
PDF, 357 KB
Your tags:
1996
35
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
Schuster, Herbert
,
Wienker, Thomas F.
,
Bähring, Sylvia
,
Bilginturan, Nihat
,
Toka, Hakan R.
,
Neitzel, Heidemarie
,
Jeschke, Eva
,
Toka, Okan
,
Gilbert, Dennis
,
Lowe, Adam
Journal:
Nature Genetics
Year:
1996
File:
PDF, 402 KB
Your tags:
1996
36
Epigenetic modifications during oocyte growth correlates with extended parthenogenetic development in the mouse
Kono, Tomohiro
,
Obata, Yayoi
,
Yoshimzu, Tomomi
,
Nakahara, Tatsuo
,
Carroll, John
Journal:
Nature Genetics
Year:
1996
File:
PDF, 514 KB
Your tags:
1996
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