Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 7

Results: 27

SOX22 is a New Member of the SOX Gene Family, Mainly Expressed in Human Nervous Tissue.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1069, doi. 10.1093/hmg/6.7.1069

By:

Jay, Philippe;
Sahly, Iman;
Gozé, Catherine;
Taviaux, Sylvie;
Poulat, Francis;
Couly, Gérard;
Abitbol, Marc;
Berta, Philippe

Publication type:

Article

Translocation Breakpoint Maps 5 kb 3′ from TWIST in a Patient Affected with Saethre-Chotzen Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1079, doi. 10.1093/hmg/6.7.1079

By:

Krebs, Inge;
Weis, Isabel;
Hudler, Melanie;
Rommens, Johanna M.;
Roth, Helmut;
Scherer, Steven W.;
Tsui, Lap-Chee;
Füchtbauer, Ernst-Martin;
Grzeschik, Karl-Heinz;
Tsuji, Kazushiro;
Kunz, Jürgen

Publication type:

Article

Transition from Premutation to Full Mutation in Fragile X Syndrome is Likely to be Prezygotic.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 971, doi. 10.1093/hmg/6.7.971

By:

Moutou, Céline;
Vincent, Marie-Claire;
Biancalana, Valérie;
Mandel, Jean-Louis

Publication type:

Article

Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1125, doi. 10.1093/hmg/6.7.1125

By:

Winberg, Jan-Olof;
Hammami-Hauasli, Nadja;
Nilssen, Øivind;
Anton-Lamprecht, Ingrun;
Naylor, Susan L.;
Kerbacher, Karen;
Zimmermann, Mirjam;
Krajci, Peter;
Gedde-Dahl, Tobias;
Bruckner-Tuderman, Leena

Publication type:

Article

Identification of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1177, doi. 10.1093/hmg/6.7.1177

By:

Lemmens, Irma;
Van de Ven, Wim J. M.;
Kas, Koen;
Zhang, Chang X.;
Giraud, Sophie;
Wautot, Virginie;
Buisson, Nathalie;
De Witte, Ko;
Salandre, Janine;
Lenoir, Gilbert;
Pugeat, Michel;
Calender, Alain;
Parente, Fabienne;
Quincey, Danielle;
Gaudray, Patrick;
De Wit, Mireille J.;
Lips, Cornelis J. M.;
Höppener, Jo W. M.;
Khodaei, Shideh;
Grant, Abby L.

Publication type:

Article

Isolation and Characterisation of the NBR2 Gene Which Lies Head to Head with the Human BRCA1 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1057

By:

Xu, Chun-Fang;
Brown, Melissa A.;
Nicolai, Hans;
Chambers, Julie A.;
Griffiths, Beatrice L.;
Solomon, Ellen

Publication type:

Article

Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 991, doi. 10.1093/hmg/6.7.991

By:

Eichler, Evan E.;
Budarf, Marcia L.;
Rocchi, Mariano;
Deaven, Larry L.;
Doggett, Norman A.;
Baldini, Antonio;
Nelson, David L.;
Mohrenweiser, Harvey W.

Publication type:

Article

A Novel Human Serine-Threonine Phosphatase Related to the Drosophila Retinal Degeneration C (rdgC) Gene is Selectively Expressed in Sensory Neurons of Neural Crest Origin.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1137, doi. 10.1093/hmg/6.7.1137

By:

Montini, E.;
Rugarli, E. I.;
Van de Vosse, E.;
Andolfi, G.;
Mariani, M.;
Puca, A. A.;
Consalez, G. G.;
den Dunnen, J. T.;
Ballabio, A.;
Franco, B.

Publication type:

Article

Evidence for a Type 1 Diabetes Susceptibility Locus (IDDM10) on Human Chromosome 10p11–q11.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1011, doi. 10.1093/hmg/6.7.1011

By:

Reed, Peter;
Cucca, Francesco;
Jenkins, Suzanne;
Merriman, Marilyn;
Wilson, Amanda;
McKinney, Patricia;
Bosi, Emanuele;
Joner, Geir;
Rønningen, Kjersti;
Thorsby, Erik;
Undlien, Dag;
Merriman, Tony;
Barnett, Anthony;
Bain, Stephen;
Todd, John

Publication type:

Article

Identification of Mutations in Two Major mRNA Isoforms of the Chediak-Higashi Syndrome Gene in Human and Mouse.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1091, doi. 10.1093/hmg/6.7.1091

By:

Barbosa, Maria D. F. S.;
Barrat, Franck J.;
Tchernev, Velizar T.;
Nguyen, Quan A.;
Mishra, Vishnu S.;
Colman, Steven D.;
Pastural, Elodie;
Dufourcq-Lagelouse, Rémi;
Fischer, Alain;
Holcombe, Randall F.;
Wallace, Margaret R.;
Brandt, Stephen J.;
de Saint Basile, Geneviève;
Kingsi'mora, Stephen F.

Publication type:

Article

Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1029, doi. 10.1093/hmg/6.7.1029

By:

Tassabehji, Mayada;
Metcalfe, Kay;
Donnai, Dian;
Hurst, Jane;
Reardon, William;
Burch, Michael;
Read, Andrew P.

Publication type:

Article

Missense Mutations in the Human Glutathione Synthetase Gene Result in Severe Metabolic Acidosis, 5-Oxoprolinuria, Hemolytic Anemia and Neurological Dysfunction.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1147, doi. 10.1093/hmg/6.7.1147

By:

Dahl, Niklas;
Pigg, Maritta;
Ristoff, Ellinor;
Gali, Rayappa;
Carlsson, Birgit;
Mannervik, Bengt;
Larsson, Agne;
Board, Philip

Publication type:

Article

Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1185, doi. 10.1093/hmg/6.7.1185

By:

Metzinger, Laurent;
Blake, Derek J.;
Squier, Marian V.;
Anderson, Louise V. B.;
Deconinck, Anne E.;
Nawrotzki, Ralph;
Hilton-Jones, David;
Davies, Kay E.

Publication type:

Article

Evidence by Allelic Association-Dependent Methods for a Type 1 Diabetes Polygene (IDDM6) on Chromosome 18q21.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1003, doi. 10.1093/hmg/6.7.1003

By:

Merriman, Tony;
Twells, Rebecca;
Merriman, Marilyn;
Eaves, Iain;
Cox, Roger;
Cucca, Francesco;
McKinney, Patricia;
Shield, Julian;
Baum, David;
Bosi, Emanuele;
Pozzilli, Paolo;
Nisticò, Lorenza;
Buzzetti, Raffaella;
Joner, Geir;
Rønningen, Kjersti;
Thorsby, Erik;
Undlien, Dag;
Pociot, Flemming;
Nerup, Jørn;
Bain, Stephen

Publication type:

Article

Human MSH2 Binds to Trinucleotide Repeat DNA Structures Associated with Neurodegenerative Diseases.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1117, doi. 10.1093/hmg/6.7.1117

By:

Pearson, Christopher E.;
Ewel, Amy;
Acharya, Samir;
Fishel, Richard A.;
Sinden, Richard R.

Publication type:

Article

Polymorphisms in the Apolipoprotein(a) Gene and Their Relationship to Allele Size and Plasma Lipoprotein(a) Concentration.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1099, doi. 10.1093/hmg/6.7.1099

By:

Puckey, Loretto H.;
Lawn, Richard M.;
Knight, Brian L.

Publication type:

Article

Visual Pigment Gene Structure and Expression in Human Retinae.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 981, doi. 10.1093/hmg/6.7.981

By:

Yamaguchi, Tomohiko;
Motulsky, Arno G.;
Deeb, Samir S.

Publication type:

Article

Autosomal Glycogenosis of Liver and Muscle Due to Phosphorylase Kinase Deficiency is Caused by Mutations in the Phosphorylase Kinase β Subunit (PHKB).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1109, doi. 10.1093/hmg/6.7.1109

By:

Burwinkel, Barbara;
Maichele, Andrea J.;
Aagenaes, Øystein;
Bakker, Henk D.;
Lerner, Aaron;
Shin, Yoon S.;
Strachan, Judith A.;
Kilimann, Manfred W.

Publication type:

Article

Single Sperm Analysis of the CAG Repeats in the Gene for Machado-Joseph Disease (MJD1): Evidence for Non-Mendelian Transmission of the MJD1 Gene and for the Effect of the Intragenic CGG/GGG Polymorphism on the Intergenerational Instability.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1063, doi. 10.1093/hmg/6.7.1063

By:

Takiyama, Y.;
Sakoe, K.;
Soutome, M.;
Namekawa, M.;
Ogawa, T.;
Nakano, I.;
Igarashi, S.;
Oyake, M.;
Tanaka, H.;
Tsuji, S.;
Nishizawa, M.

Publication type:

Article

Germline Mutations of the MEN1 Gene in Familial Multiple Endocrine Neoplasia Type 1 and Related States.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1169, doi. 10.1093/hmg/6.7.1169

By:

Agarwal, Sunita K.;
Beth Kester, Mary;
Debelenko, Larisa V.;
Heppner, Christina;
Emmert-Buck, Michael R.;
Skarulis, Monica C.;
Doppman, John L.;
Kim, Young S.;
Lubensky, Irina A.;
Zhuang, Zhengping;
Green, Jane S.;
Guru, Sirandanahalli C.;
Manickam, Pachiappan;
Olufemi, Shodimu-Emmanuel;
Liotta, Lance A.;
Chandrasekharappa, Settara C.;
Collins, Francis S.;
Spiegel, Allen M.;
Lee Burns, A.;
Marx, Stephen J.

Publication type:

Article

Molecular Basis of the Brindled Mouse Mutant (Mobr): A Murine Model of Menkes Disease.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1037, doi. 10.1093/hmg/6.7.1037

By:

Grimes, Andrew;
Hearn, Catherine J.;
Lockhart, Paul;
Newgreen, Don F.;
Mercer, Julian F. B.

Publication type:

Article

Incomplete Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Deficient Mice by the Human CFTR cDNA.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1153, doi. 10.1093/hmg/6.7.1153

By:

Rozmahel, Richard;
Gyömörey, Katalin;
Plyte, Sue;
Nguyen, Van;
Wilschanski, Michael;
Durie, Peter;
Bear, Christine E.;
Tsui, Lap-Chee

Publication type:

Article

The Molecular Basis of the Kidd Blood Group Polymorphism and Its Lack of Association With Type 1 Diabetes Susceptibility.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1017, doi. 10.1093/hmg/6.7.1017

By:

Olivès, Bernadette;
Merriman, Marilyn;
Bailly, Pascal;
Bain, Stephen;
Barnett, Anthony;
Todd, John;
Cartron, Jean-Pierre;
Merriman, Tony

Publication type:

Article

Elastin Point Mutations Cause an Obstructive Vascular Disease, Supravalvular Aortic Stenosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1021

By:

Li, Dean Y.;
Toland, Amanda E.;
Boak, Beth B.;
Atkinson, Donald L.;
Ensing, Gregory J.;
Morris, Colleen A.;
Keating, Mark T.

Publication type:

Article

Genetic Predisposition to Phaeochromocytoma: Analysis of Candidate Genes GDNF, RET and VHL.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1051, doi. 10.1093/hmg/6.7.1051

By:

Woodward, Emma R.;
Eng, Charis;
McMahon, Rob;
Voutilainen, Raimo;
Affara, Nabeel A.;
Ponder, Bruce A. J.;
Maher, Eamonn R.

Publication type:

Article

The Oral-Facial-Digital Syndrome Type 1 (OFD1), a Cause of Polycystic Kidney Disease and Associated Malformations, Maps to Xp22.2-Xp22.3.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1163, doi. 10.1093/hmg/6.7.1163

By:

Feather, Sally A.;
Woolf, Adrian S.;
Donnai, Dian;
Malcolm, Sue;
Winter, Robin M.

Publication type:

Article

Mutations in the Chediak-Higashi Syndrome Gene (CHS1) Indicate Requirement for the Complete 3801 Amino Acid CHS Protein.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1087, doi. 10.1093/hmg/6.7.1087

By:

Karim, Mohammad A.;
Nagle, Deborah L.;
Kandil, Hesham H.;
Burger, Joachim;
Moore, Karen J.;
Spritz, Richard A.

Publication type:

Article