Volume 28; Issue 10

Main
Human Mutation
Volume 28; Issue 10

Human Mutation

Volume 28; Issue 10

1

Subtelomeric imbalances in phenotypically normal individuals

Irina Balikova, Björn Menten, Thomy de Ravel, Cédric Le Caignec, Bernard Thienpont, Montse Urbina, Martine Doco-Fenzy, Marjan de Rademaeker, Geert Mortier, Frank Kooy, Janneke van Den Ende, Koen Devri

Journal:

Year:

2007

Language:

english

File:

PDF, 327 KB

english, 2007

2

The novel human SHOX allelic variant database

Beate Niesler, Ralph Röth, Steffi Wilke, Frank Fujimura, Christine Fischer, Gudrun Rappold

Journal:

Year:

2007

Language:

english

File:

PDF, 573 KB

english, 2007

3

Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy

Gui-Sen Li, Li Zhu, Hong Zhang, Ji-Cheng Lv, Jia-Xiang Ding, Ming-Hui Zhao, Yan Shen, Hai-Yan Wang

Journal:

Year:

2007

Language:

english

File:

PDF, 220 KB

english, 2007

4

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene

Fernanda R.O. Calderon, Amit R. Phansalkar, David K. Crockett, Martin Miller, Rong Mao

Journal:

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

5

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation

Robyn V. Jamieson, Nicola Farrar, Katrina Stewart, Rahat Perveen, Marija Mihelec, Martin Carette, John R. Grigg, John W. McAvoy, Frank J. Lovicu, Patrick P.L. Tam, Peter Scambler, I. Christopher Lloyd

Journal:

Year:

2007

Language:

english

File:

PDF, 275 KB

english, 2007

6

A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory

Zhi-xiang Lu, Jia Peng, Bing Su

Journal:

Year:

2007

Language:

english

File:

PDF, 392 KB

english, 2007

7

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)

Stefan Aretz, Dietlinde Stienen, Nicolaus Friedrichs, Susanne Stemmler, Siegfried Uhlhaas, Nils Rahner, Peter Propping, Waltraut Friedl

Journal:

Year:

2007

Language:

english

File:

PDF, 380 KB

english, 2007

8

Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1

Faisal Abdel Rahman, Justin F.-X. Ainscough, Nikki Copeland, Dawn Coverley

Journal:

Year:

2007

Language:

english

File:

PDF, 645 KB

english, 2007

9

Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database

Joël Zlotogora, Sjozef van Baal, George P. Patrinos

Journal:

Year:

2007

Language:

english

File:

PDF, 329 KB

english, 2007

10

SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling

Kaori Sudo, Hidenori Ito, Ikuko Iwamoto, Rika Morishita, Tomiko Asano, Koh-ichi Nagata

Journal:

Year:

2007

Language:

english

File:

PDF, 1.17 MB

english, 2007

11

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing

Nevra Nal, Zubair M. Ahmed, Engin Erkal, Özgül M. Alper, Güven Lüleci, Oktay Dinç, Ali Muhammad Waryah, Quratul Ain, Saba Tasneem, Tayyab Husnain, Parna Chattaraj, Saima Riazuddin, Erich Boger, Manju

Journal:

Year:

2007

Language:

english

File:

PDF, 339 KB

english, 2007

12

Molecular heterogeneity in fetal forms of type II lissencephaly

C. Bouchet, M. Gonzales, S. Vuillaumier-Barrot, L. Devisme, C. Lebizec, E. Alanio, A. Bazin, B. Bessières-Grattagliano, N. Bigi, P. Blanchet, D. Bonneau, M. Bonnières, D. Carles, S. Delahaye, C. Falle

Journal:

Year:

2007

Language:

english

File:

PDF, 245 KB

english, 2007

13

Polyalanine expansions might not result from unequal crossing-over

Delphine Trochet, Loïc de Pontual, Boris Keren, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Jeanne Amiel

Journal:

Year:

2007

Language:

english

File:

PDF, 184 KB

english, 2007

14

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation

Carmen Gherasim, David S. Rosenblatt, Ruma Banerjee

Journal:

Year:

2007

Language:

english

File:

PDF, 192 KB

english, 2007

15

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris R. Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen

Journal:

Year:

2007

Language:

english

File:

PDF, 480 KB

english, 2007

16

Future challenges for human mutation research

Garry R. Cutting

Journal:

Year:

2007

Language:

english

File:

PDF, 89 KB

english, 2007

17

A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases

R.G.H. Cotton, A.D. Auerbach, A.F. Brown, P. Carrera, J. Christodoulou, M. Claustres, J. Compton, D.W. Cox, E. De Baere, J.T. den Dunnen, M. Greenblatt, M. Fujiwara, P. Hilbert, A. Jani, H. Lehvaslaih

Journal:

Year:

2007

Language:

english

File:

PDF, 105 KB

english, 2007

18

Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A

Christiane Mühle, Martin Zenker, Nadia Chuzhanova, Holm Schneider

Journal:

Year:

2007

Language:

english

File:

PDF, 369 KB

english, 2007

19

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

Abigail B. Gradinger, Caroline Bélair, Lisa C. Worgan, Carter D. Li, Jocelyne Lavallée, David Roquis, David Watkins, David S. Rosenblatt

Journal:

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

20

Association of IL4R gene polymorphisms with asthma in Chinese populations

Haibing Zhang, Qu Zhang, Liming Wang, Hong Chen, Yuqin Li, Tianpen Cui, Wei Huang, Liangliang Zhang, Fei Yan, Lisa Wang, Yiping Xu, Landian Hu, Xiangyin Kong

Journal:

Year:

2007

Language:

english

File:

PDF, 1.13 MB

english, 2007

21

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

Nicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, Patrick Calvas, Alain Hovnanian

Journal:

Year:

2007

Language:

english

File:

PDF, 333 KB

english, 2007

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@z-lib.do

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