Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 4

Results: 25

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 368, doi. 10.1002/humu.20011

By:

Boehm, Detlef;
Herold, Sabine;
Kuechler, Alma;
Liehr, Thomas;
Laccone, Franco

Publication type:

Article

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9230

By:

Ries-Levavi, Liat;
Ish-Shalom, Tsofia;
Frydman, Moshe;
Lev, Dorit;
Cohen, Shirley;
Barkai, Gad;
Goldman, Boleslaw;
Byers, Peter;
Friedman, Eitan

Publication type:

Article

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9223

By:

Sangiuolo, Federica;
Magnani, Mauro;
Stambolian, Dwight;
Novelli, Giuseppe

Publication type:

Article

Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 318, doi. 10.1002/humu.20015

By:

Baldinu, Paola;
Cossu, Antonio;
Manca, Antonella;
Satta, Maria P.;
Sini, Maria C.;
Rozzo, Carla;
Dessole, Salvatore;
Cherchi, PierLuigi;
Gianfrancesco, Fernando;
Pintus, Adriana;
Carboni, Annangela;
Deiana, Angelo;
Tanda, Francesco;
Palmieri, Giuseppe

Publication type:

Article

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 379, doi. 10.1002/humu.20008

By:

Tournier, Isabelle;
Raux, Grégory;
Fiore, Fréderic Di;
Maréchal, Isabelle;
Leclerc, Carole;
Martin, Cosette;
Wang, Qing;
Buisine, Marie-Pierre;
Stoppa-Lyonnet, Dominique;
Olschwang, Sylviane;
Frébourg, Thierry;
Tosi, Mario

Publication type:

Article

Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 398, doi. 10.1002/humu.9227

By:

Deguti, Marta M.;
Genschel, Janine;
Cancado, Eduardo L.R.;
Barbosa, Egberto R.;
Bochow, Bettina;
Mucenic, Marcos;
Porta, Gilda;
Lochs, Herbert;
Carrilho, Flair J.;
Schmidt, Hartmut H.-J.

Publication type:

Article

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 300, doi. 10.1002/humu.20018

By:

Ranta, Susanna;
Topcu, Meral;
Tegelberg, Saara;
Tan, Hüseyin;
Üstübütün, Alp;
Saatci, Isil;
Dufke, Andreas;
Enders, Herbert;
Pohl, Keith;
Alembik, Yves;
Mitchell, Wayne A.;
Mole, Sara E.;
Lehesjoki, Anna-Elina

Publication type:

Article

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9222

By:

Bateman, John F.;
Freddi, Susanna;
McNeil, Robyn;
Thompson, Elizabeth;
Hermanns, Pia;
Savarirayan, Ravi;
Lamandé, Shireen R.

Publication type:

Article

Genetically heterogeneous selective intestinal malabsorption of vitamin B<sub>12</sub>: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 327, doi. 10.1002/humu.20014

By:

Tanner, Stephan M.;
Li, Zhongyuan;
Bisson, Ryan;
Acar, Ceren;
Öner, Cihan;
Öner, Reyhan;
Çetin, Mualla;
Abdelaal, Mohamed A.;
Ismail, Essam A.;
Lissens, Willy;
Krahe, Ralf;
Broch, Harald;
Gräsbeck, Ralph;
Chapelle, Albert de la

Publication type:

Article

Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 385, doi. 10.1002/humu.20007

By:

Joncourt, Franziska;
Neuhaus, Barbara;
Jostarndt-Foegen, Kristin;
Kleinle, Stephanie;
Steiner, Bernhard;
Gallati, Sabina

Publication type:

Article

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 397, doi. 10.1002/humu.9226

By:

Foretova, Lenka;
Machackova, Eva;
Navratilova, Marie;
Pavlu, Hana;
Hruba, Marcela;
Lukesova, Miroslava;
Valik, Dalibor

Publication type:

Article

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 306, doi. 10.1002/humu.20010

By:

Hanein, Sylvain;
Perrault, Isabelle;
Gerber, Sylvie;
Tanguy, Gaëlle;
Barbet, Fabienne;
Ducroq, Dominique;
Calvas, Patrick;
Dollfus, Hélène;
Hamel, Christian;
Lopponen, Tuija;
Munier, Francis;
Santos, Louisa;
Shalev, Stavit;
Zafeiriou, Dimitrios;
Dufier, Jean-Louis;
Munnich, Arnold;
Rozet, Jean-Michel;
Kaplan, Josseline

Publication type:

Article

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 395, doi. 10.1002/humu.20042

By:

Laccone, Franco;
Jünemann, Ivonne;
Whatley, Sharon;
Morgan, Rhian;
Butler, Rachel;
Huppke, Peter;
Ravine, David

Publication type:

Article

Importance of standard nomenclature for SMN1 small intragenic ('subtle') mutations.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 392, doi. 10.1002/humu.20013

By:

Ogino, Shuji;
Wilson, Robert B.

Publication type:

Article

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 400, doi. 10.1002/humu.9232

By:

Majore, S.;
Binni, F.;
Pennese, A.;
De Santis, A.;
Crisi, A.;
Grammatico, P.

Publication type:

Article

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 397, doi. 10.1002/humu.9225

By:

Feng, Jian-Hua;
Yamamoto, Toshiyuki;
Nanba, Eiji;
Ninomiya, Haruaki;
Oka, Akira;
Ohno, Kousaku

Publication type:

Article

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017

By:

Lesca, Gaëtan;
Plauchu, Henri;
Coulet, Florence;
Lefebvre, Sylvain;
Plessis, Ghislaine;
Odent, Sylvie;
Rivière, Sophie;
Leheup, Bruno;
Goizet, Cyril;
Carette, Marie-France;
Cordier, Jean-François;
Pinson, Stéphane;
Soubrier, Florent;
Calender, Alain;
Giraud, Sophie

Publication type:

Article

The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9229

By:

Aldea, Anna;
Calafell, Francesc;
Aróstegui, Juan I.;
Lao, Oscar;
Rius, Josefa;
Plaza, Susana;
Masó, Montserrat;
Vives, Jordi;
Buades, Joan;
Yagüe, Jordi

Publication type:

Article

Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 394, doi. 10.1002/humu.20041

By:

Wu, Jian Hui;
Gottlieb, Bruce;
Batist, Gerald;
Sulea, Traian;
Purisima, Enrico O.;
Beitel, Lenore K.;
Trifiro, Mark

Publication type:

Article

Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to β-amyloid metabolism.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 358, doi. 10.1002/humu.20012

By:

Katzov, Hagit;
Chalmers, Katy;
Palmgren, Juni;
Andreasen, Niels;
Johansson, Boo;
Cairns, Nigel J.;
Gatz, Margaret;
Wilcock, Gordon K.;
Love, Seth;
Pedersen, Nancy L.;
Brookes, Anthony J.;
Blennow, Kaj;
Kehoe, Patrick G.;
Prince, Jonathan A.

Publication type:

Article

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 400, doi. 10.1002/humu.9231

By:

Zheng, Guangyong;
Hu, Landian;
Huang, Wei;
Chen, Kaide;
Zhang, Xuejun;
Yang, Sen;
Sun, Jianfang;
Jiang, Yiqun;
Luo, Guangbin;
Kong, Xiangyin

Publication type:

Article

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 397, doi. 10.1002/humu.9224

By:

Vandrovcová, J.;
Štekrová, J.;
Kebrdlová, V.;
Kohoutová, M.

Publication type:

Article

Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Aβ42 levels and risk for Alzheimer disease.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 334, doi. 10.1002/humu.20016

By:

Ertekin-Taner, Nilüfer;
Allen, Mariet;
Fadale, Daniel;
Scanlin, Leah;
Younkin, Linda;
Petersen, Ronald C.;
Graff-Radford, Neill;
Younkin, Steven G.

Publication type:

Article

Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 343, doi. 10.1002/humu.20009

By:

Audrézet, Marie-Pierre;
Chen, Jian-Min;
Raguénès, Odile;
Chuzhanova, Nadia;
Giteau, Karine;
Maréchal, Cédric Le;
Quéré, Isabelle;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 398, doi. 10.1002/humu.9228

By:

Velickovic, Marija;
Prasad, Madhuri L.;
Weston, Susan A.;
Benson, Elizabeth M.

Publication type:

Article