Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 5

Results: 24

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 665, doi. 10.1093/hmg/6.5.665

By:

Litt, Michael;
Carrero-Valenzuela, Roque;
LaMorticella, Dante M.;
Schultz, Dennis W.;
Mitchell, Thomas N.;
Kramer, Patricia;
Maumenee, Irene H.

Publication type:

Article

Reduced Penetrance of the Huntington's Disease Mutation.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 775, doi. 10.1093/hmg/6.5.775

By:

McNeil, Sandra M.;
Novelletto, Andrea;
Srinidhi, Jayalakshmi;
Barnes, Glenn;
Kornbluth, Ira;
Altherr, Michael R.;
Wasmuth, John J.;
Gusella, James F.;
MacDonald, Marcy E.;
Myers, Richard H.

Publication type:

Article

Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 669, doi. 10.1093/hmg/6.5.669

By:

Pulkkinen, Leena;
Kimonis, Virginia E.;
Xu, Yili;
Spanou, Elena N.;
McLean, W. H. Irwin;
Uitto, Jouni

Publication type:

Article

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 695, doi. 10.1093/hmg/6.5.695

By:

Andresen, Brage Storstein;
Bross, Peter;
Udvari, Szabolcs;
Kirk, Jean;
Gray, George;
Kmoch, Stanislav;
Chamoles, Nestor;
Knudsen, Inga;
Winter, Vibeke;
Wilcken, Bridget;
Yokota, Ichiro;
Hart, Kimberly;
Packman, Seymour;
Harpey, Jean Paul;
Saudubray, Jean Marie;
Hale, Daniel E.;
Bolund, Lars;
Kølvraa, Steen;
Gregersen, Niels

Publication type:

Article

Human PEG1/MEST, an Imprinted Gene on Chromosome 7.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 781, doi. 10.1093/hmg/6.5.781

By:

Kobayashi, Shin;
Kohda, Takashi;
Miyoshi, Naoki;
Kuroiwa, Yoshimi;
Aisaka, Kohzo;
Tsutsumi, Osamu;
Kaneko-Ishino, Tomoko;
Ishino, Fumitoshi

Publication type:

Article

Molecular Defects in Sanfilippo Syndrome Type A.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 787, doi. 10.1093/hmg/6.5.787

By:

Blanch, Lianne;
Weber, Birgit;
Guo, Xiao-Hui;
Scott, Hamish S.;
Hopwood, John J.

Publication type:

Article

Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 681, doi. 10.1093/hmg/6.5.681

By:

Nguyen, H. Bryant;
Estacion, Mark;
Gargus, J. Jay

Publication type:

Article

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ε Subunit Gene: Identification and Functional Characterization of Six New Mutations.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 753, doi. 10.1093/hmg/6.5.753

By:

Ohno, Kinji;
Quiram, Polly A.;
Milone, Margherita;
Wang, Hai-Long;
Harper, Michel C.;
Ned Pruitt, J.;
Brengman, Joan M.;
Pao, Linda;
Fischbeck, Kenneth H.;
Crawford, Thomas O.;
Sine, Steven M.;
Engel, Andrew G.

Publication type:

Article

Identification of a Major Susceptibility Locus on Chromosome 6p and Evidence for Further Disease Loci Revealed by a Two Stage Genome-Wide Search in Psoriasis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 813, doi. 10.1093/hmg/6.5.813

By:

Trembath, Richard C.;
Lee Clough, R.;
Rosbotham, Jane L.;
Jones, Andrew B.;
Camp, Richard D. R.;
Frodsham, Angela;
Browne, Julie;
Barber, Ruth;
Terwilliger, Joseph;
Mark Lathrop, G.;
Barker, Jonathan N. W. N.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 828, doi. 10.1093/hmg/6.5.828

By:

Roewer, L.;
Kayser, M.;
Dieltjes, P.;
Nagy, M.;
Bakker, E.;
Krawczak, M.;
de Knijff, P.

Publication type:

Article

Homozygosity Mapping of Achromatopsia to Chromosome 2 Using DNA Pooling.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 689, doi. 10.1093/hmg/6.5.689

By:

Arbour, Nancy C.;
Zlotogora, Joel;
Knowlton, Robert G.;
Merin, Saul;
Rosenmann, Ada;
Kanis, Adam B.;
Rokhlina, Tatiana;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 727, doi. 10.1093/hmg/6.5.727

By:

Dixon, Jill;
Hovanes, Karine;
Shiang, Rita;
Dixon, Michael J.

Publication type:

Article

Mouse Pale Ear (ep) is Homologous to Human Hermansky-Pudlak Syndrome and Contains a Rare ‘AT-AC’ Intron.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 793, doi. 10.1093/hmg/6.5.793

By:

Feng, Guo Hong;
Bailin, Tu;
Oh, Jangsuk;
Spritz, Richard A.

Publication type:

Article

Structure and Sequence Variation at the Human Leptin Receptor Gene in Lean and Obese Pima Indians.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 675, doi. 10.1093/hmg/6.5.675

By:

Bruce Thompson, D.;
Ravussin, Eric;
Bennett, Peter H.;
Bogardus, Clifton

Publication type:

Article

Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 799, doi. 10.1093/hmg/6.5.799

By:

Heyer, Evelyne;
Puymirat, Jack;
Dieltjes, Patrick;
Bakker, Egbert;
de Knijff, Peter

Publication type:

Article

Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 805, doi. 10.1093/hmg/6.5.805

By:

Wollnik, Bernd;
Kubisch, Christian;
Steinmeyer, Klaus;
Pusch, Michael

Publication type:

Article

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 709, doi. 10.1093/hmg/6.5.709

By:

Cancel, Géraldine;
Dürr, Alexandra;
Didierjean, Olivier;
Imbert, Georges;
Bürk, Katrin;
Lezin, Agnès;
Belal, Samir;
Benomar, Ali;
Abada-Bendib, Myriem;
Vial, Christophe;
Guimarães, João;
Chneiweiss, Hervé;
Stevanin, Giovanni;
Yvert, Gael;
Abbas, Nacer;
Saudou, Frédéric;
Lebre, Anne-Sophie;
Yahyaoui, Mohamed;
Hentati, Fayçal;
Vernant, Jean-Claude

Publication type:

Article

Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 659, doi. 10.1093/hmg/6.5.659

By:

Morell, R.;
Spritz, R. A.;
Ho, L.;
Pierpont, J.;
Guo, W.;
Friedman, T. B.;
Asher, J. H.

Publication type:

Article

Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 821, doi. 10.1093/hmg/6.5.821

By:

Hahnen, Eric;
Schönling, Jutta;
Rudnik-Schöneborn, Sabine;
Raschke, Heidrun;
Zerres, Klaus;
Wirth, Brunhilde

Publication type:

Article

Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin α2-Chain.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 747, doi. 10.1093/hmg/6.5.747

By:

Allamand, Valérie;
Sunada, Yoshihide;
Salih, Mustafa A. M.;
Straub, Volker;
Ozo, O.;
Al-Turaiki, M. H. S.;
Akbar, Maksood;
Kolo, Timo;
Colognato, Holly;
Zhang, Xu;
Sorokin, Lydia M.;
Yurchenco, Peter D.;
Tryggvason, Karl;
Campbell, Kevin P.

Publication type:

Article

Characterisation of Expression of mDMAHP, a Homeodomain-Encoding Gene at the Murine DM Locus.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 651, doi. 10.1093/hmg/6.5.651

By:

Heath, Stephanie K.;
Carne, Simon;
Hoyle, Christine;
Johnson, Keith J.;
Wells, Dominic J.

Publication type:

Article

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 767, doi. 10.1093/hmg/6.5.767

By:

Croxen, Rebecca;
Newland, Claire;
Beeson, David;
Oosterhuis, Hans;
Chauplannaz, Guy;
Vincent, Angela;
Newsom-Davis, John

Publication type:

Article

Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 739, doi. 10.1093/hmg/6.5.739

By:

Pomponio, Robert J.;
Reynolds, Thomas R.;
Mandel, Hanna;
Admoni, Osnat;
Melone, Pamela D.;
Buck, Gregory A.;
Wolf, Barry

Publication type:

Article

α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 717, doi. 10.1093/hmg/6.5.717

By:

Nilssen, Øivind;
Berg, Thomas;
Riise, Hilde M. F.;
Ramachandran, Umayal;
Evjen, Gry;
Hansen, Gaute M.;
Malm, Dag;
Tranebjaerg, Lisbeth;
Tollersrud, Ole K.

Publication type:

Article