Volume 23; Issue 4

Main
Human Mutation
Volume 23; Issue 4

Human Mutation

Volume 23; Issue 4

1

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 236 KB

english, 2004

2

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 215 KB

english, 2004

3

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 537 KB

english, 2004

4

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

Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Lopponen, Francis Munier, Louisa Santos, Stav

Journal:

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

5

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 430 KB

english, 2004

6

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

7

Importance of standard nomenclature for SMN1 small intragenic (“subtle”) mutations

Shuji Ogino, Robert B. Wilson

Journal:

Year:

2004

Language:

english

File:

PDF, 69 KB

english, 2004

8

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

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

Journal:

Year:

2004

Language:

english

File:

PDF, 286 KB

english, 2004

9

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

Paola Baldinu, Antonio Cossu, Antonella Manca, Maria P. Satta, Maria C. Sini, Carla Rozzo, Salvatore Dessole, PierLuigi Cherchi, Fernando Gianfrancesco, Adriana Pintus, Annangela Carboni, Angelo Deian

Journal:

Year:

2004

Language:

english

File:

PDF, 315 KB

english, 2004

10

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 175 KB

english, 2004

11

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

Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefebvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie-France Carette, Jean-François Cordier, Stéphane Pinso

Journal:

Year:

2004

Language:

english

File:

PDF, 391 KB

english, 2004

12

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 242 KB

english, 2004

13

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 54 KB

english, 2004

14

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

15

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 11.87 MB

english, 2004

16

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

Federica Sangiuolo, Mauro Magnani, Dwight Stambolian, Giuseppe Novelli

Journal:

Year:

2004

Language:

english

File:

PDF, 1.14 MB

english, 2004

17

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 44 KB

english, 2004

18

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 1005 KB

english, 2004

19

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 45 KB

english, 2004

20

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 225 KB

english, 2004

21

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 33 KB

english, 2004

22

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 610 KB

english, 2004

23

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients

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

Journal:

Year:

2004

Language:

english

File:

PDF, 37 KB

english, 2004

24

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families

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

Journal:

Year:

2004

Language:

english

File:

PDF, 1.72 MB

english, 2004

25

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

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

Journal:

Year:

2004

Language:

english

File:

PDF, 55 KB

english, 2004

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски