Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 9

Results: 39

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 9, p. 1697
Publication type:: Article

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1693

By:

Tassara, Carla;
Pepper, Amy E.;
Puck, Jennifer M.

Publication type:

Article

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA in patients with the MELAS phenotype.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1689

By:

J.Morten, Karl;
Poulton, Joanna;
Sykes, Bryan

Publication type:

Article

A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1685

By:

E.Cleaver, James;
C.Charles, Wayne;
H.Thomas, Greg;
L.McDowell, Mindy

Publication type:

Article

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1681

By:

Quan, Franklin;
Grompe, Marcus;
Jakobs, Petra;
Popovich, Bradley W.

Publication type:

Article

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1677

By:

Olson, Timothy M.;
Michels, Virginia V.;
Urban, Zsolt;
Cslszar, Katalin;
Christiano, Angela M.;
Driscoll, David J.;
Feldt, Robert H.;
Boyd, Charles D.;
Thibodeau, Stephen N.

Publication type:

Article

Osteoblastic cells derived fronm isolated lesions of fibrous dysplasia contain activating somatic mutatuions of thje Gsα gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1675

By:

Shenker, Andrew;
Chanson, Philippe;
Welnstein, Lee S.;
Chi, Patty;
Spiegel, Alen M.;
Lomri, Abderrahim;
MARIE, Pierre J.

Publication type:

Article

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1643

By:

Fukushima, Kunihiro;
Ramesh, Arabandi;
Srisailapathy, C.R.Srikumari;
Ni, Li;
Chen, Achih;
O'Neill, Marsha;
Camp, Guy Van;
Coucke, Paul;
D.Smith, Shelley;
B.Kenyon, Judith;
Jain, Pawain;
Wilcox, Ed.R.;
I.S.Zbar, Ross;
J.H.Smith, Richard

Publication type:

Article

Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1609

By:

Gough, Stephen C.L.;
Saker, Philip J.;
Pritchard, Lynn E.;
Merriman, Tony R.;
Merriman, Marilyn E.;
Rowe, Bethan R.;
Kumar, Sudhesh;
Aitman, Timothy;
Barnett, Anthony H.;
Turner, Robert C.;
Bain, Stephen C.;
Todd, John A.

Publication type:

Article

Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1633

By:

Nicole, Sophie;
Hamida, Christiane Ben;
Beighton, Peter;
Bakouri, Selim;
Belal, Samir;
Romero, Norma;
Viljoen, Denis;
Ponsot, Gérard;
Sammoud, Azza;
Weissenbach, Jean;
Fardeau, Michel;
Hamida, Mongi Ben;
Fontaine, Bertrand;
Hentati, Fayçal

Publication type:

Article

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1673

By:

LeGuern, E.;
Gouider, R.;
Lopes, J.;
Abbas, N.;
Gugenheim, M.;
Tardieu, S.;
Ravisé, N.;
Léger, J.-M.;
Vallat, J.-M.;
Bouche, P.;
Agid, Y.;
Brice, A.;
the French CMT Collaborative Research Group

Publication type:

Article

Familial non-specific dementia maps to chromosome 3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1625

By:

Brown, Jerry;
Ashworth, Anthony;
Gydesen, Susanne;
Sorensen, Asger;
Rossor, Martin;
Hardy, John;
Collinge, John

Publication type:

Article

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1671

By:

Browne, D.L.;
Brunt, E.R.P.;
Griggs, R.C.;
Nutt, J.G.;
Gancher, S.T.;
Smith, E.A.;
Litt, M.

Publication type:

Article

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1629

By:

Christodoulou, Kyproula;
Kyriakides, Theodoros;
Hristova, Anna H.;
Georgiou, Domna-Maria;
Kalaydjieva, Ljuba;
Yshpekova, Borjana;
Ivanova, Tatjana;
L.Weber, James;
T.Middleton, Lefkos

Publication type:

Article

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1665

By:

Fukai, Kazuyoshi;
Oh, Jangsuk;
Frenk, Edgar;
Almodóvar, Carmelo;
Spritz, Richard A.

Publication type:

Article

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1657

By:

M.Serratosa, José;
V.Delgado-Escueta, Antonio;
Posada, Ignacio;
Shih, Susan;
Drury, Ivo;
Berciano, José;
Zabala, J.Antonio;
Antúnez, M.Carmen;
S.Sparkes, Robert

Publication type:

Article

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1653

By:

Kelsell, Rosemary E.;
Godley, Bernard F.;
Evans, Kevin;
Tiffin, Peter A.C.;
Gregory, Cheryl Y.;
Plant, Catherine;
Moore, Anthony T.;
Bird, Alan C.;
Hunt, David M.

Publication type:

Article

Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1649

By:

Loughlin, John;
Irven, Catherine;
Hardwick, Lee J.;
Butcher, Sophie;
Walsh, Sinead;
Wordsworth, Paul;
Sykes, Bryan

Publication type:

Article

Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1619

By:

Schmitt, Ina;
T.Epplen, Jörg;
Riess, Olaf

Publication type:

Article

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1637

By:

Baldwin, Clinton T.;
Weiss, Sari;
Farrer, Lindsay A.;
De Stefano, Anita L.;
Adair, Ronald;
Franklyn, Barbara;
Kidd, Kenneth K.;
Korostishevsky, Michael;
Bonné-Tamir, Batsheva

Publication type:

Article

The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1613

By:

Dresser, David W.;
Hacker, Adam;
Lovell-Badge, Robin;
Guerrier, Daniel

Publication type:

Article

A muscle-specific DNase I-like gene in human Xq28.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1557

By:

Parrish, Julia E.;
Ciccodicola, Alfredo;
Wehnert, Manfred;
Cox, Gerald F.;
Chen, Ellson;
Nelson, David L.

Publication type:

Article

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1603

By:

Wang, Qing;
Shen, Jiaxiang;
Li, Zhizhong;
Timothy, Katherine;
Vincent, G.Michael;
Priori, Silvia G.;
Schwartz, Peter J.;
Keating, Mark T.

Publication type:

Article

Candidate regions for a testicular cancer susceptibility gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1551

By:

Leahy, Michael G.;
Tonks, Susan;
Moses, Jonathan H.;
Brett, A.Rosemary;
Huddart, Robert;
Forman, David;
Oliver, R.Timothy D.;
Bishop, D.Timothy;
Bodmer, Julia G.

Publication type:

Article

Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1585

By:

Rubinsztein, David C.;
Leggo, Jayne;
Coetzee, Gerhard A.;
Irvine, Ryan A.;
Buckley, Michael;
Ferguson-Smith, Malcolm A.

Publication type:

Article

The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1597

By:

Hart, Stephen L.;
Mayall, Edward;
Stern, Myra;
Munkonge, Felix M.;
Frost, Amy;
Huang, Leaf;
Vasilliou, Maria;
Williamson, Robert;
AIton, Eric W.F.W.;
Coutelle, Charles

Publication type:

Article

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1579

By:

M.Christiano, Angela;
Lee, Julia Yu-Yun;
J.Chen, Wei;
LaForgia, Sal;
Uitto, Jouni

Publication type:

Article

The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1591

By:

Spelbrink, Johannes N.;
Van den Bogert, Coby

Publication type:

Article

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1565

By:

Barbaux, Sandrine;
Vilain, Eric;
Raoul, Odile;
Gilgenkrantz, Simone;
Jeandidier, Eric;
Chadenas, Denis;
Souleyreau, Nicole;
Fellous, Marc;
McElreavey, Ken

Publication type:

Article

p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1569

By:

Williamson, Magall P.;
Elder, Patricia A.;
Shaw, Margaret E.;
Devlin, Jayne;
Knowles, Margaret A.

Publication type:

Article

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1543

By:

Reymer, Paul W.A.;
Groenemeyer, Björn E.;
Gagné, Eric;
Miao, Li;
Appelman, Elianne E.G.;
Seidel, Jaap C.;
Kromhout, Daan;
Bijvoet, Saskia M.;
van de Oever, Karin;
Bruin, Taco;
Hayden, Michael R.;
P.Kastelein, John J.

Publication type:

Article

Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1535

By:

Mancini, Francesco P.;
Mooser, Vincent;
Guerra, Rudy;
Hobbs, Helen H.

Publication type:

Article

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1519

By:

P.Leeflang, Esther;
Zhang, Lin;
Tavare, Simon;
Hubert, Rene;
Srinidhi, Jayalakshmi;
E.MacDonald, Marcy;
H.Myers, Richard;
Young, Margot de;
S.Wexler, Nancy;
F.Gusella, James;
Arnheim, Norman

Publication type:

Article

The upstream stimulatory factor functionally interacts with the Alzheimer amyloid β-protein precursor gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1527

By:

Kovacs, Dora M.;
Wasco, Wilma;
Witherby, Johanna;
Felsenstein, Kevin M.;
Brunei, Franck;
Roeder, Robert G.;
Tanzi, Rudolph E.

Publication type:

Article

CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1509

By:

Tassone, Flora;
Xu, Hongxia;
Burkin, Heather;
Weissman, Sherman;
Gardiner, Katheleen

Publication type:

Article

A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1499

By:

Tsang, Patricia;
Gilles, Frederic;
Yuan, Luwa;
Kuo, Yu-Hung;
Lupu, Floria;
Samara, Ghassan;
Moosikasuwan, Josh;
Goye, Andre;
Zelenetz, Andrew D.;
Selleri, Licia;
Tycko, Benjamin

Publication type:

Article

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1493

By:

I.Goodman, Stephen;
Kratz, Lisa E.;
DiGiulio, Kathleen A.;
Biery, Barbara J.;
Goodman, Karen E.;
Isaya, Grazia;
Frerman, Frank E.

Publication type:

Article

Population genetics of trinucleotide repeat polymorphisms.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1485

By:

Watkins, W.S.;
Bamshad, M.;
Jorde, L.B.

Publication type:

Article

Cloning and characterization of alternatively spliced isoforms of Dp71.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1475

By:

Richard C., Austin;
Howard, Perry L.;
D'Souza, Vinita N;
Klamut, Henry J.;
Ray, Peter N.

Publication type:

Article