Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 12

Results: 41

Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2387

By:

Roberts, Andrew G.;
Whatley, Sharon D.;
Daniels, Jo;
Holmans, Peter;
Fenton, lain;
Owen, Michael J.;
Thompson, Peter;
Long, Colin;
Elder, George H.

Publication type:

Article

Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2423

By:

Martin, Maureen;
Mann, Dean;
Carrington, Mary

Publication type:

Article

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2199

By:

Eichler, Evan E.;
Hammond, Holly A.;
Macpherson, James N.;
Ward, Patricia A.;
Nelson, David L.

Publication type:

Article

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2424

By:

Bascom, Roger A.;
Liu, Lin;
Heckenlively, John R.;
Stone, Edwin M.;
Mclnnes, Roderick R.

Publication type:

Article

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2395

By:

Toma, N.Michael G.;
Ebenezer, Neil D.;
Inglehearn, Chris F.;
Plant, Catherine;
Ficker, Linda A.;
Bhattacharya, Shomi S.

Publication type:

Article

Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2251

By:

Steen, Vidar M.;
Molven, Anders;
Aarskog, Nina Karin;
Gulbrandsen, Anne-Karin

Publication type:

Article

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2245

By:

Suchy, Sharon F.;
Olivos-Glander, Isabelle M.;
Nussbaum, Robert L.

Publication type:

Article

Stability of the Huntington disease (CAG)n repeat in a late-onset form occurring on the Island of Crete.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2239

By:

Tzagournissakis, Minas;
Fesdjian, Christina O.;
Shashidharan, P.;
Plaitakis, Andreas

Publication type:

Article

Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 12, p. 2233
Publication type:: Article

Non-disjunction in human sperm: evidence for an effect of increasing paternal age.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2227

By:

Griffin, Darren K.;
Abruzzo, Michael A.;
Millie, Elise A.;
Sheean, Leon A.;
Feingold, Eleanor;
Sherman, Stephanie L.;
Hassold, Terry J.

Publication type:

Article

Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2219

By:

Labelle, Yves;
Zucman, Jessica;
Stenman, Göran;
Kindblom, Lars-Gunnar;
Knight, Jennifer;
Turc-Carel, Claude;
Dockhorn-Dworniczak, Barbara;
Mandahl, Nils;
Desmaze, Chantal;
Peter, Martine;
Aurias, Alain;
Delattre, Olivier;
Thomas, Gilles

Publication type:

Article

Highly conserved 3′ UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2209

By:

Coy, Johannes F.;
Sedlacek, Zdenek;
Bächner, Dietmar;
Hameister, Horst;
Joos, Stefan;
Lichter, Peter;
Delius, Hajo;
Poustka, Annemarie

Publication type:

Article

A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2391

By:

Jain, Pawan K.;
Fukushima, Kunihiro;
Deshmukh, Dilip;
Ramesh, Arabandi;
Thomas, Elizabeth;
Lalwani, Anil K.;
Kumar, Subrinder;
Ploplis, Barbara;
Skarka, Hana;
Srisailapathy, C.R.Srikumari;
Wayne, Sigrid;
Zbar, Ross I.S.;
Verma, Ishwar C.;
Smith, Richard J.H.;
Wilcox, Edward R.

Publication type:

Article

Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2189

By:

Sullivan, Beth A.;
Schwartz, Stuart

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 12, p. 2436
Publication type:: Article

Subject Index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 12, p. 2425
Publication type:: Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 12, p. 2421
Publication type:: Article

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2417

By:

Levy, Annie;
Demczuk, Suzanne;
Aurias, Alain;
Depétris, Danièle;
Mattei, Marie-Geneviève;
Philip, Nicole

Publication type:

Article

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2415

By:

Felbor, Ute;
Stöhr, Heidl;
Amann, Thomas;
Schönherr, Ulrich;
Weber, Bernhard H.F.

Publication type:

Article

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2411

By:

Quan, Franklin;
Janas, Joanne;
Popovich, Bradley W.

Publication type:

Article

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2407

By:

Attié, Tania;
Till, Marianne;
Pelet, Anna;
Amiel, Jeanne;
Edery, Patrick;
Boutrand, Laetitia;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2399

By:

Healy, Eugene;
Holmes, Susan C.;
Belgaid, Christine E.;
Stephenson, Anthea M.;
McLean, W.H.Irwin;
Rees, Jonathan L.;
Munro, Colin S.

Publication type:

Article

Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2403

By:

Vořechovský, Igor;
Luo, Liping;
de Saint Basile, Geneviève;
Hammarström, Lennart;
Webster, A.David B.;
Smith, C.I.Edvard

Publication type:

Article

Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2379

By:

Reik, Wolf;
Brown, Keith W.;
Schneid, Helene;
Le Bouc, Yves;
Bickmore, Wendy;
Maher, Eamonn R.

Publication type:

Article

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2373

By:

Campion, Dominique;
Flaman, Jean-Michel;
Brice, Alexis;
Hannequin, Didier;
Dubois, Bruno;
Martin, Cosette;
Moreau, Viviane;
Charbonnier, Françoise;
Didierjean, Olivier;
Tardieu, Sandrine;
Penet, Christiane;
Puel, Michèle;
Pasquier, Florence;
Le Doze, François;
Bellis, Gil;
Calenda, Alphonse;
Heilig, Roland;
Martinez, Maria;
Mallet, Jacques;
Bellis, Michel

Publication type:

Article

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2363

By:

Cruts, Marc;
Backhovens, Hubert;
Wang, Sheng-Yue;
Van Gassen, Geert;
Theuns, Jessie;
De Jonghe, Chris;
Wehnert, Anita;
De Voecht, Joke;
De Winter, Goedele;
Cras, Patrick;
Bruyland, Marc;
Datson, Nicole;
Weissenbach, Jean;
Dunnen, Johan T.den;
Martin, Jean-Jaques;
Hendriks, Lydia;
Van Broeckhoven, Christine

Publication type:

Article

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2319

By:

Schiaffino, M.Vittoria;
Bassi, Maria T.;
Galli, Lucia;
Renieri, Alessandra;
Bruttini, Mirella;
Nigris, Filomena De;
Bergen, Arthur A.B.;
Charles, Stephen J.;
Yates, John R.W.;
Meindl, Alfons;
Lewis, Richard A.;
King, Richard A.;
Ballabio, Andrea

Publication type:

Article

Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2355

By:

Davis, Richard J.;
Bennicelli, Jeannette L.;
Macina, Roberto A.;
Nycum, Lynn M.;
Biegel, Jaclyn A.;
Barr, Frederic G.

Publication type:

Article

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2339

By:

Meindl, Alfons;
Carvalho, Maria Raquel S.;
Herrmann, Klaus;
Lorenz, Bettina;
Achatz, Helene;
Lorenz, Birgit;
Apfelstedt-Sylla, Eckart;
Wittwer, Bärbel;
Ross, Mark;
Meitinger, Thomas

Publication type:

Article

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2335

By:

Luzi, Paola;
Rafi, Mohammad A.;
Wenger, David A.

Publication type:

Article

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2327

By:

Kiyosawa, Hidenori;
Lensch, M.William;
Chance, Phillip F.

Publication type:

Article

Breakpoint characterization of the ret/PTC oncogene in human papillary thyroid carcinoma.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2313

By:

Smanik, Patricia A.;
Furminger, Tara L.;
Mazzaferri, Ernest L.;
Jhiang, Sissy M.

Publication type:

Article

Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3).

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2347

By:

Dry, Katherine L.;
Aldred, Micheala A.;
Edgar, Alexander J.;
Brown, John;
Manson, Forbes D.C.;
Ho, Meng-Fatt;
Prosser, Jane;
Hardwick, Lee J.;
Lennon, Alan A.;
Thomson, Kate;
Van Keuren, Margaret;
Kurnit, David M.;
Bird, Alan C.;
Jay, Marcelle;
Monaco, Anthony P.;
Wright, Alan F.

Publication type:

Article

RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2307

By:

Derry, Jonathan M.J.;
Kerns, Julie A.;
Francke, Uta

Publication type:

Article

T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2299

By:

Tee, Meng-Kian;
Lin, Dong;
Sugawara, Teruo;
Holt, John A.;
Guiguen, Yann;
Buckingham, Bruce;
Strauss, Jerome F.;
Miller, Walter L.

Publication type:

Article

Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2287

By:

Kawame, Hiroshi;
Gartler, Stanley M.;
Hansen, R.Scott

Publication type:

Article

Liposome-mediated gene transfer and expression via the skin.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2279

By:

Alexander, M.Yvonne;
Akhurst, Rosemary J.

Publication type:

Article

Mouse Brca1: localization, sequence analysis and identification of evolutionarily conserved domains.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2265

By:

Abel, Kenneth J.;
Xu, Junzhe;
Yin, Gui-Ying;
Lyons, Robert H.;
Meisler, Miriam H.;
Weber, Barbara L.

Publication type:

Article

Mutation analysis of the TSC2 gene in an African-American family.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2295

By:

Kumar, A.;
Kandt, R.S.;
Wolpert, C.;
Roses, A.D.;
Pericak-Vance, M.A.;
Gilbert, J.R.

Publication type:

Article

Murine Brca1: sequence and significance for human missense mutations.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2275

By:

Sharan, Shyam K.;
Wims, Marie;
Bradley, Allan

Publication type:

Article

Distinct transcription start sites generate two forms of BRCA1 mRNA.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 12, p. 2259

By:

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

Publication type:

Article