Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 1

Results: 24

Cloning and Developmental Expression Analysis of the Murine Homolog of the Spinocerebellar Ataxia Type 1 Gene (Sea1).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 33, doi. 10.1093/hmg/5.1.33

By:

Banfi, Sandro;
Servadio, Antonio;
Chung, Ming-yi;
Capozzoli, Fiorentino;
Duvick, Lisa A.;
Elde, Robert;
Zoghbi, Huda Y.;
Orr, Harry T.

Publication type:

Article

A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 73

By:

Milasin, Jelena;
Muntoni, Francesco;
Maria Severini, Giovanni;
Bartoloni, Lucia;
Vatta, Matteo;
Krajinovic, Maja;
Mateddu, Anna;
Angelini, Corrado;
Camerini, Fulvio;
Falaschi, Arturo;
Mestroni, Luisa;
Giacca, Mauro

Publication type:

Article

A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 103, doi. 10.1093/hmg/5.1.103

By:

LeGuern, Eric;
Gouider, Riadh;
Ravisé, Nicole;
Lopes, Judith;
Tardieu, Sandrine;
Gugenheim, Michel;
Abbas, Nacer;
Bouche, Pierre;
Agid, Yves;
Brice, Alexis

Publication type:

Article

Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 115, doi. 10.1093/hmg/5.1.115

By:

Timchenko, L. T.;
Timchenko, N. A.;
Caskey, C. T.;
Roberts, R.

Publication type:

Article

Complex I deficiency is Associated with 3243G:C Mitochondrial DNA in Osteosarcoma Cell Cybrids.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 123, doi. 10.1093/hmg/5.1.123

By:

Dunbar, D. R.;
Moonie, P. A.;
Zeviani, M.;
Holt, I. J.

Publication type:

Article

Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 159, doi. 10.1093/hmg/5.1.159

By:

Mitrani-Rosenbaum, Stella;
Argov, Zohar;
Blumenfeld, Anat;
Seidman, Christine E.;
Seidman, J. G.

Publication type:

Article

Bi-directional Dideoxy Fingerprinting (Bi-ddF): A Rapid Method for Quantitative Detection of Mutations in Genomic Regions of 300–600 bp.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 107, doi. 10.1093/hmg/5.1.107

By:

Liu, Qiang;
Feng, Jinong;
Sommer, Steve S.

Publication type:

Article

Human Pseudoautosomal Boundary-like Sequences: Expression and Involvement in Evolutionary Formation of the Present-day Pseudoautosomal Boundary of Human Sex Chromosomes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 23, doi. 10.1093/hmg/5.1.23

By:

Fukagawa, Tatsuo;
Nakamura, Yasukazu;
Okumura, Katsuzumi;
Nogami, Masahiro;
Ando, Asako;
Inoko, Hidetoshi;
Saitou, Naruya;
Ikemura, Toshimichi

Publication type:

Article

Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 95, doi. 10.1093/hmg/5.1.95

By:

Sittler, Annie;
Devys, Didier;
Weber, Chantal;
Mandel, Jean-Louis

Publication type:

Article

An Animal Model for Norrie Disease (ND): Gene Targeting of the Mouse Nd Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 51, doi. 10.1093/hmg/5.1.51

By:

Berger, Wolfgang;
van de Pol, Dorien;
Bächner, Dietmar;
Oerlemans, Frank;
Winkens, Huub;
Hameister, Horst;
Wieringa, Bé;
Hendriks, Wiljan;
Ropers, Hans-Hilger

Publication type:

Article

Isolation of a Testis-Specific cDNA on Chromosome 17q from a Region Adjacent to the Breakpoint of t(12, 17) Observed in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 69, doi. 10.1093/hmg/5.1.69

By:

Ninomiya, Shinsuke;
Isomura, Minoru;
Narahara, Kouji;
Seino, Yoshiki;
Nakamura, Yusuke

Publication type:

Article

Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 165, doi. 10.1093/hmg/5.1.165

By:

Veske, Andres;
Oehlmann, Ralph;
Younus, Farah;
Mohyuddin, Aisha;
Müller-Myhsok, Bertram;
Qasim Mehdi, S.;
Gal, Andreas

Publication type:

Article

Developmental Expression of the Fac Gene Correlates with Congenital Defects in Fanconi Anemia Patients.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 85, doi. 10.1093/hmg/5.1.85

By:

Krasnoshtein, Flora;
Buchwald, Manuel

Publication type:

Article

Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 151, doi. 10.1093/hmg/5.1.151

By:

Wijker, Mario;
Wszolek, Zbigniew K.;
Wolters, Eric C. H.;
Rooimans, Martin A.;
Pals, Gerard;
Pfeiffer, Ronald F.;
Lynch, Timothy;
Rodnitzky, R. L.;
Wilhelmsen, Kirk C.;
Arwert, Fré

Publication type:

Article

Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 81, doi. 10.1093/hmg/5.1.81

By:

Takahashi, Yoshitomo;
Miyajima, Hiroaki;
Shirabe, Susumu;
Nagataki, Shigenobu;
Suenaga, Akihito;
Gitlin, Jonathan D.

Publication type:

Article

In Vivo Amplification of the PAX3-FKHR and PAX7-FKHR Fusion Genes in Alveolar Rhabdomyosarcoma.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 15, doi. 10.1093/hmg/5.1.15

By:

Barr, Frederic G.;
Nauta, Lauren E.;
Davis, Richard J.;
Schafer, Beat W.;
Nycum, Lynn M.;
Biegel, Jaclyn A.

Publication type:

Article

Linkage Studies of Non-Syndromic Recessive Deafness (NSRD) in a Family Originating from the Mirpur Region of Pakistan Maps DFNB1 Centromeric to D13S175.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 169, doi. 10.1093/hmg/5.1.169

By:

Brown, K. A.;
Janjua, A. H.;
Karbani, G.;
Parry, G.;
Noble, A.;
Crockford, G.;
Bishop, D. T.;
Newton, V. E.;
Markham, A. F.;
Mueller, R. F.

Publication type:

Article

Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 1, doi. 10.1093/hmg/5.1.1

By:

Phaneuf, Daniel;
Wakamatsu, Nobuaki;
Huang, Jing-Qi;
Borowski, Anita;
Peterson, Alan C.;
Fortunato, Sheila R.;
Ritter, Gerd;
Igdoura, Suleiman A.;
Morales, Carlos R.;
Benoit, Guylaine;
Akerman, Beverly R.;
Leclerc, Daniel;
Hanai, Nobuo;
Marth, Jamey D.;
Trasler, Jacquetta M.;
Gravel, Roy A.

Publication type:

Article

Structural Analysis of the Minisatellite Present at the 3′ end of the Human Apolipoprotein B Gene: New Definition of the Alleles and Evolutionary Implications.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 61, doi. 10.1093/hmg/5.1.61

By:

Buresi, Catherine;
Desmarais, Eric;
Vigneron, Suzanne;
Lamarti, Hatim;
Smaoui, Nizar;
Cambien, François;
Roizes, Gérard

Publication type:

Article

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22–23.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 155, doi. 10.1093/hmg/5.1.155

By:

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

Publication type:

Article

Cloning and Characterization of a Murine Brain Specific Gene Bpx and Its Human Homologue Lying within the Xic Candidate Region.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 41, doi. 10.1093/hmg/5.1.41

By:

Rougeulle, Claire;
Avner, Philip

Publication type:

Article

Mutations Revealed by Sequencing the 5′ Half of the Gene for Ataxia Telangiectasia.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 145, doi. 10.1093/hmg/5.1.145

By:

Byrd, P. J.;
McConville, C. M.;
Cooper, P.;
Parkhill, J.;
Stankovic, T.;
McGuire, G. M.;
Thick, J. A.;
Taylor, A. M. R.

Publication type:

Article

Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 139

By:

Hu, Ling-Jia;
Laporte, Jocelyn;
Kress, Wolfram;
Kioschis, Petra;
Siebenhaar, Renate;
Poustka, Annemarie;
Fardeau, Michel;
Metzenberg, Aida;
Janssen, Emiel A.;
Thomas, Nick;
Mandel, Jean Louis;
Dahl, Niklas

Publication type:

Article

Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 131, doi. 10.1093/hmg/5.1.131

By:

Maheshwar, Magitha M.;
Sandford, Richard;
Nellist, Mark;
Cheadle, Jeremy P.;
Sgotto, Barbara;
Vaudin, Mark;
Sampson, Julian R.

Publication type:

Article