Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 1

Results: 19

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 33, doi. 10.1093/hmg/7.1.33

By:

Sternberg, Damien;
Danan, Claude;
Lombès, Anne;
Laforêt, Pascal;
Girodon, Emmanuelle;
Goossens, Michel;
Amselem, Serge

Publication type:

Article

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 141, doi. 10.1093/hmg/7.1.141

By:

Lopes, Judith;
Ravisé, Nicole;
Vandenberghe, Antoon;
Palau, Francisco;
Ionasescu, Victor;
Mayer, Michelle;
Lévy, Nicolas;
Wood, Nicholas;
Tachi, Nobutada;
Bouche, Pierre;
Latour, Philippe;
Ruberg, Merle;
Brice, Alexis;
LeGuern, Eric

Publication type:

Article

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 53, doi. 10.1093/hmg/7.1.53

By:

Bijvoet, Agnes G.A.;
van de Kamp, Esther H.M.;
Kroos, Marian A.;
Ding, Jia‐Huan;
Yang, Bing Z.;
Visser, Pim;
Bakker, Cathy E.;
Verbeet, Martin Ph.;
Oostra, Ben A.;
Reuser, Arnold J.J.;
van der Ploeg, Ans T.

Publication type:

Article

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 43, doi. 10.1093/hmg/7.1.43

By:

Cruts, Marc;
van Duijn, Cornelia M.;
Backhovens, Hubert;
Van den Broeck, Marleen;
Wehnert, Anita;
Serneels, Sally;
Sherrington, Robin;
Hutton, Michael;
Hardy, John;
St George‐Hyslop, Peter H.;
Hofman, Albert;
Van Broeckhoven, Christine

Publication type:

Article

Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 121, doi. 10.1093/hmg/7.1.121

By:

Butler, Rachel;
Leigh, P. Nigel;
McPhaul, Michael J.;
Gallo, Jean‐Marc

Publication type:

Article

Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 75, doi. 10.1093/hmg/7.1.75

By:

Alkhayat, Aisha H.;
Kraemer, Stacey A.;
Leipprandt, Jeffrey R.;
Macek, Milan;
Kleijer, Wim J.;
Friderici, Karen H.

Publication type:

Article

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 129, doi. 10.1093/hmg/7.1.129

By:

Decker, Ruth A.;
Peacock, Michael L.;
Watson, Patrice

Publication type:

Article

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 63, doi. 10.1093/hmg/7.1.63

By:

Johnson, Eric W.;
Dubovsky, Jan;
Rich, Stephen S.;
O, Cormac A.;
Orr, Harry T.;
Anderson, V. Elving;
Gil‐Nagel, Antonio;
Ahmann, Peter;
Dokken, Charles G.;
Schneider, Derek T.;
Weber, James L.

Publication type:

Article

Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 1, doi. 10.1093/hmg/7.1.1

By:

Schwartz, Amy;
Chan, David C.;
Brown, Laura G.;
Alagappan, Raaji;
Pettay, Dorothy;
Disteche, Christine;
McGillivray, Barbara;
de la Chapelle, Albert;
Page, David C.

Publication type:

Article

A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 27, doi. 10.1093/hmg/7.1.27

By:

Wiltshire, Steven;
Bhattacharyya, Sumit;
Faux, Jennie A.;
Leaves, Nicholas I.;
Daniels, Susan E.;
Moffatt, Miriam F.;
James, Alan;
Musk, A. William;
Cookson, William O. C. M.

Publication type:

Article

Emerin deletions occurring on both Xq28 inversion backgrounds.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 135, doi. 10.1093/hmg/7.1.135

By:

Small, Kersten;
Warren, Stephen T.

Publication type:

Article

Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr[sup b] interval of the mouse Y chromosome of the Dffry gene.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 97, doi. 10.1093/hmg/7.1.97

By:

Brown, Graeme M.;
Furlong, Robert A.;
Sargent, Carole A.;
Erickson, Robert P.;
Longepied, Guy;
Mitchell, Michael;
Jones, Michael H.;
Hargreave, Timothy B.;
Cooke, Howard J.;
Affara, Nabeel A.

Publication type:

Article

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 85, doi. 10.1093/hmg/7.1.85

By:

Järvelä, Irma;
Sainio, Markku;
Rantamäki, Terhi;
Olkkonen, Vesa M.;
Carpén, Olli;
Peltonen, Leena;
Jalanko, Anu

Publication type:

Article

In vitro reactivation of the FMR1 gene involved in fragile X syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 109, doi. 10.1093/hmg/7.1.109

By:

Chiurazzi, Pietro;
Pomponi, M. Grazia;
Willemsen, Rob;
Oostra, Ben A.;
Neri, Giovanni

Publication type:

Article

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 149, doi. 10.1093/hmg/7.1.149

By:

Burwinkel, Barbara;
Shiomi, Susumu;
Al Zaben, Abdullah;
Kilimann, Manfred W.

Publication type:

Article

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 13, doi. 10.1093/hmg/7.1.13

By:

Trask, Barbara J.;
Friedman, Cynthia;
Martin‐Gallardo, Antonia;
Rowen, Lee;
Akinbami, Carolyn;
Blankenship, John;
Collins, Colin;
Giorgi, Dominique;
Iadonato, Shawn;
Johnson, Forrester;
Kuo, Wen‐Lin;
Massa, Hillary;
Morrish, Tammy;
Naylor, Susan;
Nguyen, Oanh T.H.;
Rouquier, Sylvie;
Smith, Todd;
Wong, David J.;
Youngblom, Janey;
van den Engh, Ger

Publication type:

Article

Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 69, doi. 10.1093/hmg/7.1.69

By:

Schweitzer, Jill Kuglin;
Livingston, Dennis M.

Publication type:

Article

The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 91, doi. 10.1093/hmg/7.1.91

By:

Greally, John M.;
Starr, Diana J.;
Hwang, Steven;
Song, Liqun;
Jaarola, Maarit;
Zemel, Sharon

Publication type:

Article

Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 115, doi. 10.1093/hmg/7.1.115

By:

Igdoura, Suleiman A.;
Gafuik, Christopher;
Mertineit, Carmen;
Saberi, Farzad;
Pshezhetsky, Alex V.;
Potier, Michel;
Trasler, Jacquetta M.;
Gravel, Roy A.

Publication type:

Article