Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 5

Results: 28

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 945

By:

Vincent, P.;
Plauchu, H.;
Hazan, J.;
Fauré, S.;
Weissenbach, J.;
Godet, J.

Publication type:

Article

The distribution of linkage disequilibrium over anonymous genome regions.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 887

By:

Peterson, Amy C.;
Di Rienzo, Anna;
Lehesjokl, Anna-Elina;
de la Chaelle, Albert;
Slatkin, Montgomery;
Frelmer, Nelson B.

Publication type:

Article

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 879

By:

Glaser, Benjamin;
Chiu, Ken C.;
Liu, Li;
Anker, Roberto;
Nestorowicz, Ann;
Cox, Nancy J.;
Landau, Heddy;
Nurit, Kalser;
Thornton, Paul S.;
Stanley, Charles A.;
Cerasl, Erol;
Baker, Lester;
Donis-Keller, Helen;
Permutt, M.Alan

Publication type:

Article

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 951

By:

Lunt, Peter W.;
Jardine, Phillp E.;
Koch, Manuela C.;
Maynard, Julie;
Osborn, Michael;
Williams, Maggie;
Harper, Peter S.;
Upadhyaya, Meena

Publication type:

Article

ERRATUM.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 974

By:

Telenius, H.;
Almqvist, E.;
Kremer, B.;
Spence, N.;
Squitieri, F.;
Nichol, K.;
Grandell, U.;
Starr, E.;
Benjamin, C.;
Castaldo, I.;
Calabrese, O.;
Anvret, M.;
Goldberg, Y.P.;
Hayden, M.R.

Publication type:

Article

CORRIGENDUM.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 974

By:

Kobayashi, K.;
Mizuno, K.;
Hida, A.;
Komaki, R.;
Tomita, K.;
Matsushita, I.;
Namiki, M.;
Iwamoto, T.;
Tamura, S.;
Minowada, S.;
Nakahori, Y.;
Nakagome, Y.

Publication type:

Article

CORRIGENDUM.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 974

By:

Borish, L.;
Mascali, J.J.;
Klinnert, M.;
Leppert, M.;
Rosenwasser, L.J.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 5, p. 973
Publication type:: Article

Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 969

By:

Tajima, Toshihiro;
Fujieda, Kenji;
Nakae, Jun;
Shinohara, Nozomi;
Yoshimoto, Masaaki;
Baba, Tuneyoshi;
Kinoshita, Ei-ichi;
Igarashl, Yutaka;
Oomura, Tutomu

Publication type:

Article

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 963

By:

Lawson, Claire T.;
Toomes, Carmel;
Fryer, Alan;
Carette, Martin J.M.;
Taylor, G.Malcolm;
Fukushima, Yoshimitsu;
Dixon, Michael J.

Publication type:

Article

A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 959

By:

Kivirikko, Sirpa;
McGrath, A.Mc;
Baudoin, Christian;
Aberdam, Daniel;
Clatti, Sabatino;
Dunnill, M. Giles;
McMillan, James R.;
Eady, Robin A.J.;
Ortonne, Jean-Paul;
Meneguzzl, Guerrino;
Ultto, Jouni;
Christiano, Angela M.

Publication type:

Article

Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 931

By:

Bergen, Arthur A.B.;
Brink, Jacoline B.ten;
Riemslag, Frans;
Schuurman, Ellen J.M.;
Tijmes, Nel

Publication type:

Article

Nucleotide sequence analysis of the apolipoprotein B 3′ VNTR.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 937

By:

Ellsworth, Darrell L.;
Shriver, Mark D.;
Boerwinkle, Eric

Publication type:

Article

Characterization of FMR1 proteins isolated from different tissues.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 895

By:

Verhell, Coleta;
de Graaff Graaff, Esther;
Bakker, Cathy E.;
Willemsen, Rob;
Willems, Patric J.;
Meijer, Nicolle;
Galjaard, Hans;
Reuser, Arnold J.J.;
Oostra, Ben A.;
Hoogeveen, André

Publication type:

Article

Mitochondrial DNA diversity in the Kuna Amerinds of Panamá.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 921

By:

Batista, Oriana;
Kolman, Connie J.;
Bermlngham, Eldredge

Publication type:

Article

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 915

By:

Danglot, Glséle;
Régnler, Vinclane;
Fauvet, Didier;
Vassal, Gilles;
Kujas, Michéle;
Bernheim, Alain

Publication type:

Article

Human cell mutants with very low mitochondrial DNA copy number (ρ).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 903

By:

Vaillant, François;
Nagley, Phillip

Publication type:

Article

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 831

By:

Florijn, Ralpha J.;
Bonden, A. J.;
Vrolijk, Hans;
Wiegant, Joop;
Vaandrager, Jan-Willem;
Bass, Frank;
den Dunnen, Johan T.;
Tanke, Hans J.;
van Ommen, Gert-Jan B.;
Raap, Anton K.

Publication type:

Article

No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 853

By:

Liddell, Malcolm B.;
Bayer, A.J.;
Owen, Michael J.

Publication type:

Article

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 783

By:

Khandjian, Edouard W.;
Anny, Fortin;
Thibodeau, Alain;
Tremblay, Sandra;
Côt´, France;
Devys, Didier;
Mandel, Jean-Louis;
Rousseau, François

Publication type:

Article

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 869

By:

Klink, Albrecht;
Schiebel, Katrin;
Winkelmann, Martina;
Rao, Ercole;
Horsthemke, Bernhard;
Lüdecke, Hermann-Joset;
Claussen, Uwe;
Scherer, Gerd;
Rappold, Gudrun

Publication type:

Article

The human Y chromosome homologue of XG: transcription of a naturally truncated gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 859

By:

Weller, Polly A.;
Critcher, Ricky;
Goodfellow, Peter N.;
German, James;
Ellis, Nathan A.

Publication type:

Article

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 843

By:

Jansen, Gert;
B¨chner, Dietmar;
Coerwinkel, Marga;
Wormskamp, Nicole;
Hameister, Horst;
Wieringa, Bé

Publication type:

Article

A novel dystrophin isoform is required for normal retinal electrophysiology.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 837

By:

D'Souza, Vinita N.;
Man, Nguyen thi;
Morris, Glenn E.;
Karges, Wolfram;
Pillers, De-Ann M.;
Ray, Peter N.

Publication type:

Article

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 821

By:

Angrist, Misha;
Bolk, Stacey;
Thiel, Bonnie;
Puffenberger, Erik G.;
Hofstra, Robert M.;
Buys, Charles H.C.M.;
Cass, Daniel T.;
Chakravarti, Aravinda

Publication type:

Article

Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 807

By:

Maruyama, Hirofumi;
Nakamura, Shigenobu;
Matsuyama, Zenjiro;
Sakai, Tetsuo;
Doyu, Manabu;
Sobue, Gen;
Seto, Makiko;
Tsujihata, Mitsuhiro;
Oh-i, Takekazu;
Nishio, Takeshi;
Sunohara, Nobuhiko;
Takahashi, Ryosuke;
Hayashi, Michiyuki;
Nishino, Ichizo;
Ohtake, Toshiyuki;
Oda, Tatsuro;
Nishimura, Masataka;
Saida, Takahiko;
Matsumoto, Hiroyuki;
Baba, Masayuki

Publication type:

Article

Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 801

By:

Robinson, Wendy P.;
Lalande, Marc

Publication type:

Article

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 5, p. 791

By:

Lamour, Valé;
Lécluse, Yann;
Desmaze, Chantal;
Spector, Mono;
Bodescot, Myriam;
Aurias, Alain;
Osley, Mary Ann;
Lipinski, Marc

Publication type:

Article