Works matching IS 03406717 AND DT 2010 AND VI 128 AND IP 1

Results: 12

Christopher Baum: Genetic modification of haematopoietic stem cells: methods and protocols.

Published in:

2010

By:

Qasim, Waseem

Publication type:

Book Review

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5

By:

Friedrich, Katrin;
Lee, Lin;
Leistritz, Dru F.;
Nürnberg, Gudrun;
Saha, Bidisha;
Hisama, Fuki M.;
Eyman, Daniel K.;
Lessel, Davor;
Nürnberg, Peter;
Chumei Li;
Garcia-F.-Villalta, María;
Kets, Carolien M.;
Schmidtke, Joerg;
Cruz, Vítor Tedim;
Van der Akker, Peter C.;
Boak, Joseph;
Peter, Dincy;
Compoginis, Goli;
Cefle, Kivanc;
Ozturk, Sukru

Publication type:

Article

Obituary of Leena Peltonen-Palotie.

Published in:

2010

By:

Hudson, Thomas J.

Publication type:

Obituary

Copy number variants at Williams–Beuren syndrome 7q11.23 region.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 3, doi. 10.1007/s00439-010-0827-2

By:

Merla, Giuseppe;
Brunetti-Pierri, Nicola;
Micale, Lucia;
Fusco, Carmela

Publication type:

Article

Dena S. Davis: Genetic Dilemmas: Reproductive Technology, Parental Choices, and Children’s Futures 2/e.

Published in:

2010

By:

Douglas, Andrew;
Lucassen, Anneke

Publication type:

Book Review

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 61, doi. 10.1007/s00439-010-0825-4

By:

Richards-Yutz, Jennifer;
Grant, Kathleen;
Chao, Elizabeth C.;
Walther, Susan E.;
Ganguly, Arupa

Publication type:

Article

Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 27, doi. 10.1007/s00439-010-0817-4

By:

Antonell, Anna;
Vilardell, Mireia;
Pérez Jurado, Luis A.

Publication type:

Article

High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations.

Published in:

2010

By:

Rodríguez-Ezpeleta, Naiara;
Álvarez-Busto, Jon;
Imaz, Liher;
Regueiro, María;
Azcárate, María Nerea;
Bilbao, Roberto;
Iriondo, Mikel;
Gil, Ana;
Estonba, Andone;
Aransay, Ana María

Publication type:

Report

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 39, doi. 10.1007/s00439-010-0821-8

By:

Phasukkijwatana, Nopasak;
Kunhapan, Bussaraporn;
Stankovich, Jim;
Chuenkongkaew, Wanicha L.;
Thomson, Russell;
Thornton, Timothy;
Bahlo, Melanie;
Mushiroda, Taisei;
Nakamura, Yusuke;
Mahasirimongkol, Surakameth;
Aung Win Tun;
Srisawat, Chatchawan;
Limwongse, Chanin;
Peerapittayamongkol, Chayanon;
Sura, Thanyachai;
Suthammarak, Wichit;
Lertrit, Patcharee

Publication type:

Article

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 51, doi. 10.1007/s00439-010-0823-6

By:

Iseri, Sibel Ugur;
Wyatt, Alexander W.;
Nürnberg, Gudrun;
Kluck, Christian;
Nürnberg, Peter;
Holder, Graham E.;
Blair, Ed;
Salt, Alison;
Ragge, Nicola K.

Publication type:

Article

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 ( RIN2).

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 79, doi. 10.1007/s00439-010-0829-0

By:

Syx, Delfien;
Malfait, Fransiska;
Laer, Lut van;
Hellemans, Jan;
Hermanns-Lê, Trinh;
Willaert, Andy;
Benmansour, Abdelmajid;
Paepe, Anne De;
Verloes, Alain

Publication type:

Article

The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 89, doi. 10.1007/s00439-010-0828-1

By:

Hawken, Steven J.;
Greenwood, Celia M. T.;
Hudson, Thomas J.;
Kustra, Rafal;
McLaughlin, John;
Quanhe Yang;
Zanke, Brent W.;
Little, Julian

Publication type:

Article