Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 11

Results: 19

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1661, doi. 10.1093/hmg/7.11.1661

By:

Bayés, Mònica;
Hartung, Andrew J.;
Ezer, Sini;
Pispa, Johanna;
Thesleff, Irma;
Srivastava, Anand K.;
Kere, Juha

Publication type:

Article

Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1681, doi. 10.1093/hmg/7.11.1681

By:

Ding, Hao;
Beckers, Marie‐Claire;
Plaisance, Stéphane;
Marynen, Peter;
Collen, Désiré;
Belayew, Alexandra

Publication type:

Article

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1795, doi. 10.1093/hmg/7.11.1795

By:

Marsh, Karen L.;
Dixon, Jill;
Dixon, Michael J.

Publication type:

Article

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1779, doi. 10.1093/hmg/7.11.1779

By:

Benson, Kathleen F.;
Horwitz, Marshall;
Wolff, John;
Friend, Kathy;
Thompson, Elizabeth;
White, Sue;
Richards, Robert I.;
Raskind, Wendy H.;
Bird, Thomas D.

Publication type:

Article

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1753, doi. 10.1093/hmg/7.11.1753

By:

Kubisch, Christian;
Schmidt‐Rose, Thomas;
Fontaine, Bertrand;
Bretag, Allan H.;
Jentsch, Thomas J.

Publication type:

Article

Recombinant human acid α-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1815, doi. 10.1093/hmg/7.11.1815

By:

Bijvoet, Agnes G. A.;
Kroos, Marian A.;
Pieper, Frank R.;
Van der Vliet, Martin;
De Boer, Herman A.;
Van der Ploeg, Ans T.;
Verbeet, Martin Ph.;
Reuser, Arnold J. J.

Publication type:

Article

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1761, doi. 10.1093/hmg/7.11.1761

By:

Vankeerberghen, Anne;
Wei, Lin;
Jaspers, Martine;
Cassiman, Jean‐Jacques;
Nilius, Bernd;
Cuppens, Harry

Publication type:

Article

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1703, doi. 10.1093/hmg/7.11.1703

By:

Laporte, Jocelyn;
Blondeau, François;
Buj‐Bello, Anna;
Tentler, Dimtry;
Kretz, Christine;
Dahl, Niklas;
Mandel, Jean‐Louis

Publication type:

Article

Testicular CFTR splice variants in patients with congenital absence of the vas deferens.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1739, doi. 10.1093/hmg/7.11.1739

By:

Larriba, Sara;
Bassas, Lluis;
Gimenez, Javier;
Ramos, Maria D.;
Segura, Ana;
Nunes, Virginia;
Estivill, Xavier;
Casals, Teresa

Publication type:

Article

Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear-mitochondrial communication.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1801, doi. 10.1093/hmg/7.11.1801

By:

Barrientos, Antoni;
Moraes, Carlos T.

Publication type:

Article

Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1787, doi. 10.1093/hmg/7.11.1787

By:

Rottier, Robbert J.;
Hahn, Christopher N.;
Mann, Linda W.;
del Pilar Martin, Maria;
Smeyne, Richard J.;
Suzuki, Kinuko;
d, Alessandra

Publication type:

Article

Adenovirus-mediated transfer of the acid α-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1695, doi. 10.1093/hmg/7.11.1695

By:

Nicolino, Marc P.;
Puech, Jean‐Philippe;
Kremer, Erik J.;
Reuser, Arnold J. J.;
Mbebi, Corinne;
Verdière‐Sahuqué, Martine;
Kahn, Axel;
Poenaru, Livia

Publication type:

Article

The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1713, doi. 10.1093/hmg/7.11.1713

By:

Mazeyrat, Sophie;
Saut, Noëmie;
Sargent, Carole A.;
Grimmond, Sean;
Longepied, Guy;
Ehrmann, Ingrid E.;
Ellis, Pamela S.;
Greenfield, Andy;
Affara, Nabeel A.;
Mitchell, Michael J.

Publication type:

Article

Characterization of genes encoding translation initiation factor eIF-2γ in mouse and human: sex chromosome localization, escape from X-inactivation and evolution.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1725, doi. 10.1093/hmg/7.11.1725

By:

Ehrmann, Ingrid E.;
Ellis, Pamela S.;
Mazeyrat, Sophie;
Duthie, Sarah;
Brockdorff, Neil;
Mattei, Marie G.;
Gavin, Marc A.;
Affara, Nabeel A.;
Brown, Graeme M.;
Simpson, Elizabeth;
Mitchell, Michael J.;
Scott, Diane M.

Publication type:

Article

Measured haplotype analysis of the angiotensin-I converting enzyme gene.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1745, doi. 10.1093/hmg/7.11.1745

By:

Keavney, Bernard;
McKenzie, Colin A.;
Connell, John M. C.;
Julier, Cécile;
Ratcliffe, Peter J.;
Sobel, Eric;
Lathrop, Mark;
Farrall, Martin

Publication type:

Article

Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1771, doi. 10.1093/hmg/7.11.1771

By:

Ried, K.;
Rao, E.;
Schiebel, K.;
Rappold, G. A.

Publication type:

Article

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1809, doi. 10.1093/hmg/7.11.1809

By:

Stevanin, Giovanni;
Giunti, Paola;
Belal, Gilles David1, Samir;
Dürr, Alexandra;
Ruberg, Merle;
Wood, Nicholas;
Brice, Alexis

Publication type:

Article

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1671, doi. 10.1093/hmg/7.11.1671

By:

Cichon, Sven;
Anker, Martina;
Vogt, Ina R.;
Rohleder, Hendrik;
Pützstück, Markus;
Hillmer, Axel;
Farooq, Sardar A.;
Al‐Dhafri, Khamis S.;
Ahmad, Mahmud;
Haque, Sayedul;
Rietschel, Marcella;
Propping, Peter;
Kruse, Roland;
Nöthen, Markus M.

Publication type:

Article

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 11, p. 1825, doi. 10.1093/hmg/7.11.1825

By:

Dumanchin, Cécile;
Camuzat, Agnès;
Campion, Dominique;
Verpillat, Patrice;
Hannequin, Didier;
Dubois, Bruno;
Saugier‐Veber, Pascale;
Martin, Cosette;
Penet, Christiane;
Charbonnier, Françoise;
Agid, Yves;
Frebourg, Thierry;
Brice, Alexis

Publication type:

Article