Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 6

Results: 20

A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 843, doi. 10.1093/hmg/5.6.843

By:

Sertié, A. L.;
Quimby, M.;
Moreira, E. S.;
Murray, J.;
Zatz, M.;
Antonarakis, S. E.;
Passos-Bueno, M. R.

Publication type:

Article

A Transcription Map of the Digeorge and Velo-Ardio-Facial Syndrome Minimal Critical Region on 22q11.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 789, doi. 10.1093/hmg/5.6.789

By:

Gong, Weilong;
Emanuel, Beverly S.;
Collins, Joelle;
Kim, David H.;
Wang, Zhili;
Chen, Feng;
Zhang, Guozhong;
Roe, Bruce;
Budarf, Marcia L.

Publication type:

Article

Primate Origin of the CMT1A-REP Repeat and Analysis of a Putative Transposon-Associated Recombinational Hotspot.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 745, doi. 10.1093/hmg/5.6.745

By:

Kiyosawa, Hidenori;
Chance, Phillip F.

Publication type:

Article

The Emery-Dreifuss Muscular Dystrophy Protein, Emerin, is a Nuclear Membrane Protein.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 801, doi. 10.1093/hmg/5.6.801

By:

Manilal, S.;
Man, Nguyen thi;
Sewry, C. A.;
Morris, G. E.

Publication type:

Article

Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 835, doi. 10.1093/hmg/5.6.835

By:

Durocher, Francine;
Shattuck-Eidens, Donna;
McClure, Melody;
Labrie, Fernand;
Skolnick, Mark H.;
Goldgar, David E.;
Simard, Jacques

Publication type:

Article

Genetic Association between Monoamine Oxidase A Microsatellite and RFLP Alleles and Bipolar Affective Disorder: Analysis and Meta-Analysis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 779, doi. 10.1093/hmg/5.6.779

By:

Rubinsztein, D. C.;
Leggo, J.;
Goodburn, S.;
Walsh, C.;
Jain, S.;
Paykel, E. S.

Publication type:

Article

A Gene for a Dominant Form of Non-Syndromic Sensorineural Deafness (DFNA11) Maps Within the Region Containing the DFNB2 Recessive Deafness Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 849, doi. 10.1093/hmg/5.6.849

By:

Tamagawa, Yuya;
Kitamura, Ken;
Ishida, Takashi;
Ishikawa, Kazuhiro;
Tanaka, Hajime;
Tsuji, Shoji;
Nishizawa, Masatoyo

Publication type:

Article

A Gene for Autosomal Dominant Late-Onset Progressive Non-Syndromic Hearing Loss, DFNA10, Maps to Chromosome 6.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 853, doi. 10.1093/hmg/5.6.853

By:

O'Neill, Marsha E.;
Marietta, Jacquie;
Nishimura, Darryl;
Wayne, Sigrid;
Van Camp, Guy;
Van Laer, Lut;
Negrini, Clelia;
Wilcox, Edward R.;
Chen, Achih;
Fukushima, Kunihiro;
Ni, Li;
Sheffield, Val C.;
Smith, Richard J. H.

Publication type:

Article

DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 763, doi. 10.1093/hmg/5.6.763

By:

Nyström-Lahti, Minna;
Wu, Ying;
Moisio, Anu-Liisa;
Hofstra, Robert M. W.;
Osinga, Jan;
Mecklin, Jukka-Pekka;
Järvinen, Heikki J.;
Leisti, Jaakko;
Buys, Charles H. C. M.;
de la Chapelle, Albert;
Peltomäki, Päivi

Publication type:

Article

Identification of a Gene Disrupted by a Microdeletion in a Patient with X-Linked Retinitis Pigmentosa (XLRP).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 827, doi. 10.1093/hmg/5.6.827

By:

Roepman, Ronald;
Bauer, David;
Rosenberg, Thomas;
van Duijnhoven, Gerard;
van de Vosse, Esther;
Platzer, Matthias;
Rosenthal, André;
Ropers, Hans-Hilger;
Cremers, Frans P. M.;
Berger, Wolfgang

Publication type:

Article

Mutational Scanning of Large Genes By Extensive Pcr Multiplexing and Two-Dimensional Electrophoresis: Application to the RB1 Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 755, doi. 10.1093/hmg/5.6.755

By:

Van Orsouw, Nathalie J.;
Li, Daizong;
van der Vlies, Pieter;
Scheffer, Hans;
Eng, Charis;
Buys, Charles H. C. M.;
Li, Frederick P.;
Vijg, Jan

Publication type:

Article

Genomic Imprinting of Human p57KIP2 and Its Reduced Expression in Wilms' Tumors.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 783, doi. 10.1093/hmg/5.6.783

By:

Hatada, Izuho;
Inazawa, Johji;
Abe, Tatsuo;
Nakayama, Masahiro;
Kaneko, Yasuhiko;
Jinno, Yoshihiro;
Niikawa, Norio;
Ohashi, Hirofumi;
Fukushima, Yoshimitsu;
Iida, Kazuki;
Yutani, Chikao;
Takahashi, Shun-ichi;
Chiba, Yoshihide;
Ohishi, Sachiko;
Mukai, Tsunehiro

Publication type:

Article

Ser72Pro Active-Site Disease Mutation in Human Lysosomal Aspartylglucosaminidase: Abnormal Intracellular Processing and Evidence for Extracellular Activation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 737, doi. 10.1093/hmg/5.6.737

By:

Peltola, Minna;
Tikkanen, Ritva;
Peltonen, Leena;
Jalanko, Anu

Publication type:

Article

Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 771, doi. 10.1093/hmg/5.6.771

By:

Weber, Birgit;
Blanch, Lianne;
Clements, Peter R.;
Scott, Hamish S.;
Hopwood, John J.

Publication type:

Article

Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer (TOC).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 857, doi. 10.1093/hmg/5.6.857

By:

Kelsell, David P.;
Risk, Janet M.;
Leigh, Irene M.;
Stevens, Howard P.;
Ellis, Anthony;
Hennies, Hans C.;
Reis, André;
Weissenbach, Jean;
Timothy Bishop, D.;
Spurr, Nigel K.;
Field, John K.

Publication type:

Article

Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 821

By:

Monet, Etienne;
Chateau, Corinne;
Hirst, Mark C.;
Thepot, François;
Taillandier, Agnès;
Cibois, Olivier;
Serre, Jean-Louis

Publication type:

Article

FMRP is Associated to the Ribosomes Via RNA.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 809, doi. 10.1093/hmg/5.6.809

By:

Tamanini, Filippo;
Meijer, Nicolle;
Verheij, Coleta;
Willems, Patrick J.;
Galjaard, Hans;
Oostra, Ben A.;
Hoogeveen, André T.

Publication type:

Article

Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 (LGMD2F) and Indicates That There is at Least One More Subtype of AR LGMD.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 815, doi. 10.1093/hmg/5.6.815

By:

Passos-Bueno, M. R.;
Moreira, E. S.;
Vainzof, M.;
Marie, S. K.;
Zatz, M.

Publication type:

Article

Population Screening at the FRAXA and FRAXE Loci: Molecular Analyses of Boys with Learning Difficulties and Their Mothers.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 727, doi. 10.1093/hmg/5.6.727

By:

Murray, Anna;
Youings, Sheila;
Dennis, Nick;
Latsky, Lorinda;
Linehan, Paul;
McKechnie, Nicky;
Macpherson, James;
Pound, Michelle;
Jacobs, Patricia

Publication type:

Article

Targeted Disruption of the Mouse Sphingolipid Activator Protein Gene: A Complex Phenotype, Including Severe Leukodystrophy and Wide-Spread Storage of Multiple Sphingolipids.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 711, doi. 10.1093/hmg/5.6.711

By:

Fujita, Nobuya;
Suzuki, Kinuko;
Vanier, Marie T.;
Popko, Brian;
Maeda, Nobuyo;
Klein, Andreas;
Henseler, Margarete;
Sandhoff, Konrad;
Nakayasu, Hiroyuki;
Suzuki, Kunihiko

Publication type:

Article