Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 4

Results: 20

Localisation of a Gene for Dominant Cone-Rod Dystrophy (CORD6) to Chromosome 17p.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 597, doi. 10.1093/hmg/6.4.597

By:

Kelsell, Rosemary E.;
Evans, Kevin;
Gregory, Cheryl Y.;
Moore, Anthony T.;
Bird, Alan C.;
Hunt, David M.

Publication type:

Article

A Duplication of 12 bp in the Critical Cysteine Rich Domain of the RET Proto-Oncogene Results in a Distinct Phenotype of Multiple Endocrine Neoplasia Type 2A.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 587, doi. 10.1093/hmg/6.4.587

By:

Höppner, Wolfgang;
Ritter, Michael M.

Publication type:

Article

Murine Mucopolysaccharidosis Type I: Targeted Disruption of the Murine α-l-Iduronidase Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 503, doi. 10.1093/hmg/6.4.503

By:

Clarke, Lorne A.;
Russell, Christopher S.;
Pownall, Scott;
Warrington, Cara L.;
Borowski, Anita;
Dimmick, James E.;
Toone, Jennifer;
Jirik, Frank R.

Publication type:

Article

Identification of a Self-Association Region Within the SCA1 Gene Product, Ataxin-1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 513, doi. 10.1093/hmg/6.4.513

By:

Burright, Eric N.;
Davidson, Jennifer D.;
Duvick, Lisa A.;
Koshy, Beena;
Zoghbi, Huda Y.;
Orr, Harry T.

Publication type:

Article

A Functional Polymorphism in the Promoter Region of the Dopamine D2 Receptor Gene Is Associated with Schizophrenia.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 577, doi. 10.1093/hmg/6.4.577

By:

Arinami, Tadao;
Gao, Ming;
Hamaguchi, Hideo;
Toru, Michio

Publication type:

Article

Co-Ordinate Regulation of the Cystic Fibrosis and Multidrug Resistance Genes in Cystic Fibrosis Knockout Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 527, doi. 10.1093/hmg/6.4.527

By:

Trezise, Ann E. O.;
Ratcliff, Rosemary;
Hawkins, Tim E.;
Evans, Martin J.;
Freeman, Tom C.;
Romano, Pascale R.;
Higgins, Christopher F.;
Colledge, William H.

Publication type:

Article

Identification of the Syrian Hamster Cardiomyopathy Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 601, doi. 10.1093/hmg/6.4.601

By:

Nigro, Vincenzo;
Okazaki, Yasushi;
Belsito, Angela;
Piluso, Giulio;
Matsuda, Yoichi;
Politano, Luisa;
Nigro, Giovanni;
Ventura, Carlo;
Abbondanza, Ciro;
Molinari, Anna Maria;
Acampora, Dario;
Nishimura, Masahiko;
Hayashizaki, Yoshihide;
Puca, Giovanni Alfredo

Publication type:

Article

Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 539, doi. 10.1093/hmg/6.4.539

By:

Rowe, Peter S. N.;
Oudet, Claudine L.;
Francis, Fiona;
Sinding, Christiane;
Pannetier, Solange;
Econs, Mike J.;
Strom, Tim M.;
Meitinger, Thomas;
Garabedian, Michele;
David, Albert;
Macher, Marie-Alice;
Questiaux, Elisabeth;
Popowska, Ewa;
Pronicka, Ewa;
Read, Andrew P.;
Mokrzycki, Agnes;
Glorieux, Francis H.;
Drezner, Marc K.;
Hanauer, Andre;
Lehrach, Hans

Publication type:

Article

Identification of the Gene Encoding the Human Mitochondrial RNA Polymerase (h-mtRPOL) by Cyberscreening of the Expressed Sequence Tags Database.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 615, doi. 10.1093/hmg/6.4.615

By:

Tiranti, Valeria;
Savoia, Anna;
Forti, Francesca;
D'Apolito, Maria-Felicia;
Centra, Marta;
Rocchi, Mariano;
Zeviani, Massimo

Publication type:

Article

Analysis of the Steroidogenic Acute Regulatory Protein (StAR) Gene in Japanese Patients with Congenital Lipoid Adrenal Hyperplasia.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 571, doi. 10.1093/hmg/6.4.571

By:

Nakae, Jun;
Tajima, Toshihiro;
Sugawara, Teruo;
Arakane, Futoshi;
Hanaki, Keiichi;
Hotsubo, Tomoyuki;
Igarashi, Noboru;
Igarashi, Yutaka;
Ishii, Tadashi;
Koda, Naoya;
Kondo, Takuma;
Kohno, Hitoshi;
Nakagawa, Yuichi;
Tachibana, Katsuhiko;
Takeshima, Yasuhiro;
Tsubouchi, Kohji;
Strauss, Jerome F.;
Fujieda, Kenji

Publication type:

Article

Tumour Necrosis Factor Haplotypes and Asthma.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 551, doi. 10.1093/hmg/6.4.551

By:

Moffatt, Miriam F.;
Cookson, William O. C. M.

Publication type:

Article

Iraqi-Jewish Kindreds with Optic Atrophy Plus (3-Methylglutaconic Aciduria Type 3) Demonstrate Linkage Disequilibrium with the CTG Repeat in the 3′ Untranslated Region of the Myotonic Dystrophy Protein Kinase Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 563, doi. 10.1093/hmg/6.4.563

By:

Nystuen, Arne;
Costeff, Hanan;
Elpeleg, Orly N.;
Apter, Naomi;
Bonné-Tamir, Batsheva;
Mohrenweiser, Harvey;
Haider, Neena;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Linkage and Physical Mapping of X-Linked Lissencephaly/SBH (XLIS): A Gene Causing Neuronal Migration Defects in Human Brain.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 555, doi. 10.1093/hmg/6.4.555

By:

Ross, M. Elizabeth;
Allen, Kristina M.;
Srivastava, Anand K.;
Featherstone, Terry;
Gleeson, Joseph G.;
Hirsch, Betsy;
Harding, Brian N.;
Andermann, Eva;
Abdullah, Rabi;
Berg, Michael;
Czapansky-Bielman, Desireé;
Flanders, Dean J.;
Guerrini, Renzo;
Motté, Jacques;
Mira, A. Puche;
Scheffer, Ingrid;
Berkovic, Samuel;
Scaravilli, F.;
King, Richard A.;
Ledbetter, David H.

Publication type:

Article

Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 641, doi. 10.1093/hmg/6.4.641

By:

Stoilov, Ivaylo;
Akarsu, A. Nurten;
Sarfarazi, Mansoor

Publication type:

Article

Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 591, doi. 10.1093/hmg/6.4.591

By:

Sharp, J. D.;
Wheeler, R. B.;
Lake, B. D.;
Savukoski, M.;
Järvelä, I. E.;
Peltonen, L.;
Gardiner, R. M.;
Williams, R. E.

Publication type:

Article

Location of the First Genetic Locus, PKDr1, Controlling Autosomal Dominant Polycystic Kidney Disease in Han:SPRD cy/+ rat.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 609, doi. 10.1093/hmg/6.4.609

By:

Bihoreau, Marie-Thérèse;
Ceccherini, Isabella;
Browne, Julie;
Kränzlin, Betina;
Romeo, Giovanni;
Lathrop, G. Mark;
James, Michael R.;
Gretz, Norbert

Publication type:

Article

Mapping of the Familial Infantile Myasthenia (Congenital Myasthenic Syndrome Type Ia) Gene to Chromosome 17p with Evidence of Genetic Homogeneity.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 635, doi. 10.1093/hmg/6.4.635

By:

Christodoulou, Kyproula;
Tsingis, Marios;
Deymeer, Feza;
Serdaroglu, Piraye;
Ozdemir, Coskun;
Al-Shehab, Ahmad;
Bairactaris, Chrysostomos;
Mavromatis, Ioannis;
Mylonas, Ioannis;
Evoli, Amelia;
Kyriallis, Kyriacos;
Middleton, Lefkos T.

Publication type:

Article

Inhibition of Fibrillin 1 Expression Using U1 snRNA as a Vehicle for the Presentation of Antisense Targeting Sequence.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 519, doi. 10.1093/hmg/6.4.519

By:

Montgomery, Robert A.;
Dietz, Harry C.

Publication type:

Article

Identification of Nine Novel Mutations in the Hepatocyte Nuclear Factor 1 Alpha Aene Associated with Maturity-Onset Diabetes of the Young (MODY3).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 583, doi. 10.1093/hmg/6.4.583

By:

Vaxillaire, Martine;
Rouard, Mathias;
Yamagata, Kazuya;
Oda, Naohisa;
Kaisaki, Pamela J.;
Boriraj, V. Vicky;
Chevre, Jean-Claude;
Boccio, Valérie;
Cox, Roger D.;
Lathrop, G. Mark;
Dussoix, Philippe;
Philippe, Jacques;
Timsit, José;
Charpentier, Guillaume;
Velho, Gilberto;
Bell, Graeme I.;
Froguel, Philippe

Publication type:

Article

Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 627, doi. 10.1093/hmg/6.4.627

By:

Lagerstedt, Kristina;
Karsten, Stanislav L.;
Carlberg, Britt-Marie;
Kleijer, Wim J.;
Tönnesen, Tönne;
Pettersson, Ulf;
Bondeson, Marie-Louise

Publication type:

Article