Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 7

Results: 32

Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 933

By:

Vog, P. H.;
Edelmann, A.;
Kirsch, S.;
Henegariu, O.;
Hirschmann, P.;
Kiesewetter, F.;
Köhn, F. M.;
Schill, W. B.;
Farah, S.;
Ramos, C.;
Hartmann, M.;
Hartschuh, W.;
Meschede, D.;
Behre, H. M.;
Castel, A.;
Nieschlag, E.;
Weidner, W.;
Gröne, H-J.;
Jung, A.;
Engel, W.

Publication type:

Article

A Cysteine 3340 Substitution in the Dystroglycan-Binding Domain of Dystrophin Associated with Duchenne Muscular Dystrophy, Mental Retardation and Absence of the ERG b-Wave.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 973, doi. 10.1093/hmg/5.7.973

By:

Lenk, Uwe;
Oexle, Konrad;
Voit, Thomas;
Ancker, Ulrike;
Hellner, Karl-Anton;
Speer, Astrid;
Hübner, Christoph

Publication type:

Article

Genetic studies and molecular structures: the dystrophin associated complex.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 865, doi. 10.1093/hmg/5.7.865

By:

Beckmann, Jacques S.

Publication type:

Article

Biochemical Evidence for Nuclear Gene Involvement in Phenotype of Non-Syndromic Deafness Associated with Mitochondrial 12S rRNA Mutation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 963, doi. 10.1093/hmg/5.7.963

By:

Guan, Min-Xin;
Fischel-Ghodsian, Nathan;
Attardi, Giuseppe

Publication type:

Article

Saturation Multipoint Linkage Mapping of Chromosome 6q in Type 1 Diabetes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1071, doi. 10.1093/hmg/5.7.1071

By:

Davies, June L.;
Cucca, Francesco;
Goy, Juliet V.;
Atta, Zeinat A. A.;
Merriman, Marilyn E.;
Wilson, Amanda;
Barnett, Anthony H.;
Bain, Stephen C.;
Todd, John A.

Publication type:

Article

Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1035, doi. 10.1093/hmg/5.7.1035

By:

Roepman, Ronald;
van Duijnhoven, Gerard;
Rosenberg, Thomas;
Pinckers, Alfred J. L. G.;
Bleeker-Wagemakers, Liesbeth M.;
Bergen, Arthur A. B.;
Post, Jan;
Beck, Alfred;
Reinhardt, Richard;
Ropers, Hans-Hilger;
Cremers, Frans P. M.;
Berger, Wolfgang

Publication type:

Article

cDNA Characterization and Chromosomal Mapping of Two Human Homologues of the Drosophila Dishevelled Polarity Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 953, doi. 10.1093/hmg/5.7.953

By:

Pizzuti, Antonio;
Amati, Francesca;
Calabrese, Giuseppe;
Mari, Aldo;
Colosimo, Alessia;
Silani, Vincenzo;
Giardino, Luciana;
Ratti, Antonia;
Penso, Donata;
Calzà, Laura;
Palka, Giandomenico;
Scarlato, Gugliemo;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

Localization of a Gene Responsible for Autosomal Recessive Demyelinating Neuropathy with Focally Folded Myelin Sheaths to Chromosome 11q23 by Homozygosity Mapping and Haplotype Sharing.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1051, doi. 10.1093/hmg/5.7.1051

By:

Bolino, Alessandra;
Brancolini, Valeria;
Bono, Francesco;
Bruni, Amalia;
Gambardella, Antonio;
Romeo, Giovanni;
Quattrone, Aldo;
Devoto, Marcella

Publication type:

Article

Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 985, doi. 10.1093/hmg/5.7.985

By:

Sherrington, R.;
Froelich, S.;
Sorbi, S.;
Campion, D.;
Chi, H.;
Rogaeva, E. A.;
Levesque, G.;
Rogaev, E. I.;
Lin, C.;
Liang, Y.;
Ikeda, M.;
Mar, L.;
Brice, A.;
Agid, Y.;
Percy, M.E.;
Clerget-Darpoux, F.;
Piacentini, S.;
Marcon, G.;
Nacmias, B.;
Amaducci, L.

Publication type:

Article

Encapsidated Adenovirus Minichromosomes Allow Delivery and Expression of a 14 kb Dystrophin cDNA to Muscle Cells.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 913, doi. 10.1093/hmg/5.7.913

By:

Kumar-Singh, Rajendra;
Chamberlain, Jeffrey S.

Publication type:

Article

Duplication of a Gene-Rich Cluster between 16p11.1 and Xq28: A Novel Pericentromeric-Directed Mechanism for Paralogous Genome Evolution.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 899, doi. 10.1093/hmg/5.7.899

By:

Eichler, Evan E.;
Lu, Fei;
Shen, Ying;
Antonacci, Rachele;
Jurecic, Vesna;
Doggett, Norman A.;
Moyzis, Robert K.;
Baldini, Antonio;
Gibbs, Richard A.;
Nelson, David L.

Publication type:

Article

Dysfunction of the Orleans Reeler Gene Arising from Exon Skipping Due to Transposition of a Full-Length Copy of an Active L1 Sequence into the Skipped Exon.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 989, doi. 10.1093/hmg/5.7.989

By:

Takahara, Tokuei;
Ohsumi, Tomoya;
Kuromitsu, Junro;
Shibata, Kazuhiro;
Sasaki, Nobuya;
Okazaki, Yasushi;
Shibata, Hideo;
Sato, Shigeo;
Yoshiki, Atsushi;
Kusakabe, Moriaki;
Muramatsu, Masami;
Ueki, Minoru;
Okuda, Kiyoji;
Hayashizaki, Yoshihide

Publication type:

Article

Frequent Deletion of Chromosome 1p Sequences in an Aggressive Histologic Subtype of Endometrial Cancer.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1017, doi. 10.1093/hmg/5.7.1017

By:

Arlt, Martin F.;
Herzog, Thomas J.;
Mutch, David G.;
Gersell, Deborah J.;
Liu, Hua;
Goodfellow, Paul J.

Publication type:

Article

Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1001, doi. 10.1093/hmg/5.7.1001

By:

Néri, Christian;
Albanèse, Véronique;
Lebre, Anne-Sophie;
Holbert, Sébastien;
Saada, Claudine;
Bougueleret, Lydie;
Meier-Ewert, Sebastian;
Le Gall, Isabelle;
Millasseau, Philippe;
Bui, Hung;
Giudicelli, Catherine;
Massart, Catherine;
Guillou, Sophie;
Gervy, Patricia;
Poullier, Eric;
Rigault, Philippe;
Weissenbach, Jean;
Lennon, Greg;
Chumakov, Ilya;
Dausset, Jean

Publication type:

Article

A Model for Testing Recombinogenic Sequences in the Mouse Germline.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 875, doi. 10.1093/hmg/5.7.875

By:

Moynahan, Mary Ellen;
Akgün, Ercan;
Jasin, Maria

Publication type:

Article

Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1023, doi. 10.1093/hmg/5.7.1023

By:

Lüdecke, Barbara;
Knappskog, Per M.;
Clayton, Peter T.;
Surtees, Robert A. H.;
Clelland, James D.;
Heales, Simon J. R.;
Brand, Michael P.;
Bartholomé, Klaus;
Flatmark, Torgeir

Publication type:

Article

Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1043, doi. 10.1093/hmg/5.7.1043

By:

Speer, Marcy C.;
Tandan, Rup;
Rao, Nagesh P.;
Fries, Timothy;
Stajich, Jeffrey M.;
Bolhuis, Pieter A.;
Jöbsis, G. Joost;
Vance, Jeffery M.;
Viles, Kristi D.;
Sheffield, Karen;
James, Christi;
Kahler, Stephen G.;
Pettenati, Mark;
Gilbert, John R.;
Denton, Peter H.;
Yamaoka, Larry H.;
Pericak-Vance, Margaret A.

Publication type:

Article

The Gene Responsible for Autosomal Dominant Doyne's Honeycomb Retinal Dystrophy (DHRD) Maps to Chromosome 2p16.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1055, doi. 10.1093/hmg/5.7.1055

By:

Gregory, Cheryl Y.;
Evans, Kevin;
Wijesuriya, Sujeewa D.;
Kermani, Sana;
Jay, Marcelle R.;
Plant, Catherine;
Cox, Nigel;
Bird, Alan C.;
Bhattacharya, Shomi S.

Publication type:

Article

Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 945, doi. 10.1093/hmg/5.7.945

By:

Akarsu, A. Nurten;
Stoilov, Ivaylo;
Yilmaz, Engin;
Sayli, B. Sitki;
Sarfarazi, Mansoor

Publication type:

Article

A Gene for Non-Syndromic Autosomal Dominant Progressive Postlingual Sensorineural Hearing Loss Maps to Chromosome 14q12–13.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1047, doi. 10.1093/hmg/5.7.1047

By:

Manolis, Evangelos N.;
Yandavi, Naidu;
Nadol, Joseph B.;
Eavey, Roland D.;
McKenna, Michael;
Rosenbaum, Stella;
Khetarpal, Uman;
Halpin, Christopher;
Merchant, Saumil N.;
Duyk, Geoffrey M.;
MacRae, Calum;
Seidman, Christine E.;
Seidman, J.G.

Publication type:

Article

Analysis of Molecular Variance (Amova) of Y-Chromosome-Specific Microsatellites in Two Closely Related Human Populations.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1029, doi. 10.1093/hmg/5.7.1029

By:

Roewer, Lutz;
Kayser, Manfred;
Dieltjes, Patrick;
Nagy, Marion;
Bakker, Egbert;
Krawczak, Michael;
de Knijff, Peter

Publication type:

Article

Identification of Three Mutations and Associated Haplotypes in the Protoporphyrinogen Oxidase Gene in South African Families with Variegate Porphyria.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 981, doi. 10.1093/hmg/5.7.981

By:

Warnich, Louise;
Kotze, Maritha J.;
Groenewald, Ilse M.;
Groenewald, Johannes Z.;
van Brakel, Maléne G.;
van Heerden, Carel J.;
de Villiers, J. Nico P.;
van de Ven, Wim J. M.;
Schoenmakers, Eric F.P.M.;
Taketani, Shigeru;
Retief, Andries E.

Publication type:

Article

An RBM Homologue Maps to the Mouse Y Chromosome and is Expressed in Germ Cells.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 869, doi. 10.1093/hmg/5.7.869

By:

Elliott, David J.;
Ma, Kun;
Kerr, Shona M.;
Thakrar, Rekben;
Speed, Robert;
Chandley, Ann C.;
Cooke, Howard

Publication type:

Article

Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 977, doi. 10.1093/hmg/5.7.977

By:

Billuart, P.;
Vinet, M. C.;
des Portes, V.;
Llense, S.;
Richard, L.;
Moutard, M. L.;
Recan, D.;
Brüls, T.;
Bienvenu, T.;
Kahn, A.;
Beldjord, C.;
Chelly, J.

Publication type:

Article

Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome: Implications for the Molecular Mechanisms of the Instability of the CAG Repeat.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 923, doi. 10.1093/hmg/5.7.923

By:

Igarashi, S.;
Takiyama, Y.;
Cancel, G.;
Rogaeva, E. A.;
Sasaki, H.;
Wakisaka, A.;
Zhou, Y.-X.;
Takano, H.;
Endo, K.;
Sanpei, K.;
Oyake, M.;
Tanaka, H.;
Stevanin, G.;
Abbas, N.;
Dürr, A.;
Rogaev, E. I.;
Sherrington, R.;
Tsuda, T.;
Ikeda, M.;
Cassa, E.

Publication type:

Article

Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 887, doi. 10.1093/hmg/5.7.887

By:

van der Maarel, Silvère M.;
Scholten, Inge H. J. M.;
Huber, Irene;
Philippe, Christophe;
Suijkerbuijk, Ron F.;
Gilgenkrantz, Simone;
Kere, Juha;
Cremers, Frans P. M.;
Ropers, Hans-Hilger

Publication type:

Article

Mapping of DFNB12, a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1061, doi. 10.1093/hmg/5.7.1061

By:

Chaïb, Hassan;
Place, Christophe;
Salem, Nabiha;
Dodé, Catherine;
Chardenoux, Sébastien;
Weissenbach, Jean;
El Zir, Elie;
Loiselet, Jacques;
Petit, Christine

Publication type:

Article

Clustering of Mutations in the Biotin-Binding Region of Holocarboxylase Synthetase in Biotin-Responsive Multiple Carboxylase Deficiency.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1011, doi. 10.1093/hmg/5.7.1011

By:

Dupuis, Lucie;
Leon-Del-Rio, Alfonso;
Leclerc, Daniel;
Campeau, Eric;
Sweetman, Lawrence;
Saudubray, Jean-Marie;
Herman, Gail;
Gibson, K. Michael;
Gravel, Roy A.

Publication type:

Article

A New Variant of the β Subunit of the High-Affinity Receptor for Immunoglobulin E (FcεRI-β E237G): Associations with Measures of Atopy and Bronchial Hyper-Responsiveness.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 959, doi. 10.1093/hmg/5.7.959

By:

Hill, M. R.;
Cookson, W. O. C. M.

Publication type:

Article

A Model of mRNA Splicing in Adult Lysosomal Storage Disease (Glycogenosis Type II).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 995, doi. 10.1093/hmg/5.7.995

By:

Raben, Nina;
Nichols, Ralph C.;
Martiniuk, Frank;
Plotz, Paul H.

Publication type:

Article

The CTLA-4 Gene Region of Chromosome 2q33 Is Linked to, and Associated with, Type 1 Diabetes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1075, doi. 10.1093/hmg/5.7.1075

By:

Nisticò, Lorenza;
Buzzetti, Raffaella;
Pritchard, Lynn E.;
Van der Auwera, Bart;
Giovannini, Claudio;
Bosi, Emanuele;
Martinez Larrad, Maria Teresa;
Serrano Rios, Manuel;
Chow, C. C.;
Cockram, Clive S.;
Jacobs, Karen;
Mijovic, Catherine;
Bain, Stephen C.;
Barnett, Anthony H.;
Vandewalle, Christina L.;
Schuit, Frans;
Gorus, Frans K.;
Tosi, Roberto;
Pozzilli, Paolo;
Todd, John A.

Publication type:

Article

Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1065, doi. 10.1093/hmg/5.7.1065

By:

Timmerman, Vincent;
De Jonghe, Peter;
Simokovic, Sandra;
Löfgren, Ann;
Beuten, Joke;
Nelis, Eva;
Ceuterick, Chantal;
Martin, Jean-Jacques;
Van Broeckhoven, Christine

Publication type:

Article