Volume 120; Issue 1

Main
Human Genetics
Volume 120; Issue 1

Human Genetics

Volume 120; Issue 1

1

Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree

Carolien I. Panhuysen, Amir Karban, Alisa Knodle Manning, Theodore M. Bayless, Richard H. Duerr, Joan E. Bailey-Wilson, Ervin H. Epstein, Steven R. Brant

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 287 KB

english, 2006

2

Strong association between polymorphisms inANKHlocus and skeletal size traits

Ida Malkin, Sergey Ermakov, Eugene Kobyliansky, Gregory Livshits

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 933 KB

english, 2006

3

A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview

Jian-Min Chen, Claude Férec, David N. Cooper

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2006

4

Loss of function polymorphisms inNAT1protect against spina bifida

Liselotte E. Jensen, Karen Hoess, Laura E. Mitchell, Alexander S. Whitehead

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 194 KB

english, 2006

5

Efficient selection of tagging single-nucleotide polymorphisms in multiple populations

Bryan N. Howie, Christopher S. Carlson, Mark J. Rieder, Deborah A. Nickerson

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 439 KB

english, 2006

6

ICAMgene cluster SNPs and prostate cancer risk in African Americans

Hankui Chen, Wenndy Hernandez, Mark D. Shriver, Chiledum A. Ahaghotu, Rick A. Kittles

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 376 KB

english, 2006

7

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

Marjolein Kriek, Karoly Szuhai, Sarina G. Kant, Stefan J. White, Hans Dauwerse, Heike Fiegler, Nigel P. Carter, Jeroen Knijnenburg, Johan T. den Dunnen, Hans J. Tanke, Martijn H. Breuning, Carla Rosen

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 326 KB

english, 2006

8

The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells

Markus Riessland, Lars Brichta, Eric Hahnen, Brunhilde Wirth

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 450 KB

english, 2006

9

No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese

Norimoto Gotoh, Ryo Yamada, Hitomi Hiratani, Victor Renault, Sachiko Kuroiwa, Marion Monet, Sachiko Toyoda, Shohei Chida, Michiko Mandai, Atsushi Otani, Nagahisa Yoshimura, Fumihiko Matsuda

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 139 KB

english, 2006

10

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

Regie Lyn P. Santos, Muhammad Jawad Hassan, Shaheen Sikandar, Kwanghyuk Lee, Ghazanfar Ali, Protacio E. Martin, Michael Angelo L. Wambangco, Wasim Ahmad, Suzanne M. Leal

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 187 KB

english, 2006

11

Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia

Dawei Li, Lin He

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 373 KB

english, 2006

12

Differential expression of the cardiac ryanodine receptor in normal and arrhythmogenic right ventricular cardiomyopathy canine hearts

Kathryn M. Meurs, Veronique A. Lacombe, Keith Dryburgh, Philip R. Fox, Peter R. Reiser, Mark D. Kittleson

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 316 KB

english, 2006

13

ITGB3shows genetic and expression interaction withSLC6A4

Lauren A. Weiss, Carole Ober, Edwin H. Cook

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 375 KB

english, 2006

14

Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families

Tie-Lin Yang, Dong-Hai Xiong, Yan Guo, Robert R. Recker, Hong-Wen Deng

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 262 KB

english, 2006

15

Cytogenetics of human germ cells

Joy D. A. Delhanty

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 123 KB

english, 2006

16

A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2–q12

Yongjia Yang, Jihong Guo, Zheng Liu, Siyuan Tang, Ningdong Li, Mengrong Yang, Qiong Pang, Feiyue Fan, Juan Bu, Song Tao Yuan, Xiangjun Xiao, Yuxiang Chen, Kanxing Zhao

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 259 KB

english, 2006

17

Announcement

Journal:

Année:

2006

Fichier:

PDF, 469 KB

2006

18

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes

Justyna M. Szamalek, Violaine Goidts, David N. Cooper, Horst Hameister, Hildegard Kehrer-Sawatzki

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 636 KB

english, 2006