Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 10

Results: 34

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp to val in Linker 12 domin of keratin 5.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1999

By:

Matsuki, Masato;
Hashimoto, Kohji;
Yoshikawa, Kunihlko;
Yasuno, Hirokazu;
Yamanishi, Kiyofuml

Publication type:

Article

Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1995

By:

Kwan, Sau-Plng;
Hagemann, Tracy L.;
Blaese, R.Michael;
Knutsen, Alan;
Rosen, Fred S.

Publication type:

Article

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1993

By:

Satokata, Ichiro;
Uchiyama, Makoto;
Tanaka, Kiyoji

Publication type:

Article

Detection of BRCA1 mutations by the protein truncation test.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1989

By:

Plummer, Sarah J.;
Anton-Culver, Hoda;
Webster, Linda;
Noble, Barbara;
Liao, Shu;
Kennedy, Alexander;
Belinson, Jerome;
Casey, Graham

Publication type:

Article

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1987

By:

Kitamura, Yutaka;
Scavarda, Nancy;
Wells, Samuel A.;
Jackson, Charles E.;
Goodfellow, Paul J.

Publication type:

Article

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1983

By:

McAllister, Kimberly A.;
Baldwin, Melanie A.;
Thukkani, Arun K.;
Gallione, Carol J.;
Berg, Jonathan N.;
Porteous, Mary E.;
Guttmacher, Allan E.;
Marchuk, Douglas A.

Publication type:

Article

Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1979

By:

Paimirotta, Raffaele;
Curia, Maria Cristina;
Esposito, Diana L.;
Vaianzano, Rosa;
Messerini, Luca;
Ficari, Ferdinando;
Brandi, Maria Luisa;
Tonelli, Francesco;
Mariani-Costantini, Renato;
Battista, Pasquale;
Cama, Alessandro

Publication type:

Article

A gene for ulnar–mammary syndrome maps to 1 2q23–q24.1.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1973

By:

Bamshad, M.;
Krakowiak, P.A.;
Watkins, W.S.;
Root, S.;
Carey, J.C.;
Jorde, L.B.

Publication type:

Article

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1967

By:

Lesperance, Marci M.;
Hail, James W.;
Bess, Fred H.;
Fukushima, Kunihiro;
Jain, Pawan K.;
Plopils, Barbara;
Agustin, Theresa B.San;
Skarka, Hana;
Smith, Richard J.H.;
Wills, Marketa;
Wilcox, Edward R.

Publication type:

Article

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 2006

By:

Hwu, W.-L.;
Chuang, S.-C.;
Tsai, L.-P.;
Chang, M.-H.;
Chuang, S.-M.;
Wang, T.-R.

Publication type:

Article

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1963

By:

Nadal, Nathalie;
Rolland, Marie-Odile;
Tranchant, Christine;
Reutenauer, Laurence;
Gyapay, Gabor;
Warter, Jean-Marie;
Mandel, Jean-Louis;
Kœnig, Michel

Publication type:

Article

CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1957

By:

Morris, A.G.;
Gaitonde, E.;
McKenna, P.J.;
Mollon, J.D.;
Hunt, D.M.

Publication type:

Article

Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1953

By:

Matsushima, Mieko;
Kobayashi, Kanji;
Eml, Mitsuru;
Saito, Junko;
Suzumori, Kaoru;
Nakamura, Yusuke

Publication type:

Article

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1935

By:

Fuentes, Juan-José;
Pritchard, Melanie A.;
Planas, Anna M.;
Bosch, Assumpciò;
Ferrer, Isidre;
Estivill, Xavier

Publication type:

Article

Conservation of a maternal-specific methylation signal at the human IGF2R locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1945

By:

Smrzka, Oskar W.;
Faé, Ingrid;
Stöger, Reinhard;
Kurzbauer, Robert;
Fischer, Gottfried;
Henn, Traudi;
Weith, Andreas;
Barlow, Denise P.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1995, v. 4, n. 10, p. 2005
Publication type:: Article

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 2003

By:

Nigro, Vincenzo;
Brunl, Paola;
Ciccodicola, Alfredo;
Polltano, Lulsa;
Nigro, Giovannl;
Plluso, Giullo;
Cappa, Vittorio;
Covone, Angela E.;
Romeo, Giovanni;
D'Urso, Michele

Publication type:

Article

A deletion hot-spot in exon 7 of the G8α gene (GNAS1) in patients with Aibright hereditary osteodystrophy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 2001

By:

Yu, Shuhua;
Yu, Dawen;
Hainline, Bryan E.;
Brener, Jacob L.;
Wilson, Kathryn;
Wilson, Louise C.;
Oude-Luttikhuls, Monique;
Trembath, Richard C.;
Weinstein, Lee S.

Publication type:

Article

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1927

By:

Hahnen, Eric;
Forkert, Randolf;
Marke, Christine;
Rudnik-Schöneborn, Sabine;
Schönling, Jutta;
Zerres, Klaus;
Creavin, T.;
Wirth, Brunhilde

Publication type:

Article

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1919

By:

Boucher, C.A.;
King, S.K.;
Carey, N.;
Krahe, R.;
Winchester, C.L.;
Rahman, S.;
Creavin, T.;
Mehji, P.;
Bailey, M.E.S.;
Chartier, F.L.;
Brown, S.D.;
Siciliano, M.J.;
Johnson, K.J.

Publication type:

Article

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1911

By:

Goldberg, Y.Paul;
McMurray, Cynthia T.;
Zeisier, Jutta;
Almqvist, Elisabeth;
Sillence, David;
Richards, Flona;
Gacy, A.Marquis;
Buchanan, Janet;
Telenius, Hâkan;
Hayden, Michael

Publication type:

Article

Quantitative DNA fiber mapping.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1903

By:

Weler, H-U.G.;
Wang, Lin;
Mullikin, J.C.;
Zhu, Y.;
Cheng, J-F.;
Greulich, K.M.;
Bensimon, A.;
Gray, J.W.

Publication type:

Article

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1895

By:

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

Publication type:

Article

Microsatellite instability at a single locus (D11S988) on chromosome 11p15.5 as a late event in mammary tumorigenesis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1889

By:

Karnik, Pratima;
Plummer, Sarah;
Casey, Graham;
Myles, Jonathan;
Tubbs, Raymond;
Crowe, Joseph;
Williams, Bryan R.G.

Publication type:

Article

Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1883

By:

Suzuki, Hiroyuki;
Zhou, Xiaoling;
Yin, Jing;
Lei, Jungi;
Jiang, HaL Yan;
Suzuki, Yukiko;
Chan, Tim;
Hannon, Gregory J.;
Mergner, Wolfgang J.;
Abraham, John M.;
Melzer, Stephen J.

Publication type:

Article

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1875

By:

Shamsher, M.K.;
Navsaria, H.A.;
Stevens, H.P.;
Ratnavel, R.C.;
Purkis, P.E.;
Keisell, D.P.;
McLean, W.H.I.;
Cook, L.J.;
Griffiths, W.A.D.;
Gschmeissner, S.;
Spurr, N.;
Leigh, I.M.

Publication type:

Article

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1869

By:

Raha-Chowdhury, Ruma;
Bowen, Derrick J.;
Stone, Caroline;
Pointon, Jennifer J.;
Terwilliger, Joseph D.;
Shearman, Jeremy D.;
Robson, Kathryn J.H.;
Bomford, Adrian;
Worwood, Mark

Publication type:

Article

Molecular defects in Krabbe disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1865

By:

Tatsumi, Naoko;
Inui, Koji;
Sakai, Norio;
Fukushima, Hisao;
Nishimoto, Alfredo;
Yanagihara, Itaru;
Nishigaki, Toshinori;
Tsukamoto, Hiroko;
Fu, Ling;
Tanlike, Masako;
Okada, Shintaro

Publication type:

Article

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1859

By:

Blone, Silvia;
Small, Kersten;
Aksmanovic, Veronica M.A.;
D'Urso, Michele;
Ciccodicola, Alfredo;
Merlini, Luciano;
Morandi, Lucia;
Kress, Wolfram;
Yates, John R.W.;
Warren, Steve T.;
Toniolo, Daniela

Publication type:

Article

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1853

By:

Klauck, Sabine M.;
Wllgenbus, Petra;
Yates, John R.W.;
Müller, Clemens R.;
Poustka, Annemarie

Publication type:

Article

Mutations of the CDKN2/p16 gene in Australian melanoma kindreds.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1845

By:

Walker, Graeme;
Hussussian, Christopher;
Flores, José F.;
Glendening, Michael J.;
Haluska, Frank G.;
Dracopoli, Nicholas C.;
Hayward, Nicholas K.;
Fountain, Jane W.

Publication type:

Article

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1837

By:

Sheffield, Val. C.;
Weber, James L.;
Buetow, Kenneth H.;
Murray, Jeffrey C.;
Even, Dee Ann;
Wiles, Kerry;
Gastier, Julie M.;
Pulido, Jacqueline C.;
Yandava, Chandri;
Sunden, Sara L.;
Mattes, Gretel;
Businga, Thomas;
McClain, Anne;
Beck, John;
Scherpler, Titia;
Gilliam, John;
Zhong, John;
Duyk, Geoffrey M.

Publication type:

Article

Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1829

By:

Gastier, Julie M.;
Pulido, Jacqueline C.;
Sunden, Sara;
Brody, Thomas;
Buetow, Kenneth H.;
Murray, Jeffrey C.;
Weber, James L.;
Hudson, Thomas J.;
Sheffield, Val C.;
Duyk, Geoffrey M.

Publication type:

Article

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1821

By:

Ferrero, Glovanni B.;
Franco, Brunella;
Roth, E.Jill;
Firulli, Beth A.;
Borsanl, Gluseppe;
Delmas-Mata, Juan;
Weissenbach, Jean;
Halley, George;
Schlessinger, David;
Chinault, A.Craig;
Y.Zoghbi, Huda;
L.Nelson, David;
Ballabio, Andrea

Publication type:

Article