Volume 128; Issue 1

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Human Genetics
Volume 128; Issue 1

Human Genetics

Volume 128; Issue 1

1

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

Anna Antonell, Mireia Vilardell, Luis A. Pérez Jurado

Journal:

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

2

Genome-wide linkage scan and association study ofPARLto the expression of LHON families in Thailand

Nopasak Phasukkijwatana, Bussaraporn Kunhapan, Jim Stankovich, Wanicha L. Chuenkongkaew, Russell Thomson, Timothy Thornton, Melanie Bahlo, Taisei Mushiroda, Yusuke Nakamura, Surakameth Mahasirimongkol

Journal:

Year:

2010

Language:

english

File:

PDF, 544 KB

english, 2010

3

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations inVSX2causing recessive microphthalmia and a semidominant inner retinal dystrophy

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

Journal:

Year:

2010

Language:

english

File:

PDF, 447 KB

english, 2010

4

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia

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

Journal:

Year:

2010

Language:

english

File:

PDF, 860 KB

english, 2010

5

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

Journal:

Year:

2010

Language:

english

File:

PDF, 100 KB

english, 2010

6

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 997 KB

english, 2010

7

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 619 KB

english, 2010

8

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 574 KB

english, 2010

9

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

Andrew Douglas, Anneke Lucassen

Journal:

Year:

2010

Language:

english

File:

PDF, 106 KB

english, 2010

10

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

Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel K. Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María J. Garcia-F-Villalta, Carolien M. Kets, Joer

Journal:

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

11

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

12

Obituary of Leena Peltonen-Palotie

Thomas J. Hudson

Journal:

Year:

2010

Language:

english

File:

PDF, 81 KB

english, 2010