Volume 122; Issue 3-4

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Human Genetics
Volume 122; Issue 3-4

Human Genetics

Volume 122; Issue 3-4

1

Comments on the paper by D. Li and L. He: Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia

Journal:

Year:

2007

Language:

english

File:

PDF, 197 KB

english, 2007

2

Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations

Rita Y. Y. Yong, Linda S. H. Gan, Yuet Meng Chang, Eric P. H. Yap

Journal:

Year:

2007

Language:

english

File:

PDF, 730 KB

english, 2007

3

Variation in estimated recombination rates across human populations

Jan Graffelman, David J. Balding, Anna Gonzalez-Neira, Jaume Bertranpetit

Journal:

Year:

2007

Language:

english

File:

PDF, 314 KB

english, 2007

4

Tagging SNPs in the kallikrein genes

Prodipto Pal, Huifeng Xi, Guangyun Sun, Ritesh Kaushal, Joshua J. Meeks, C. Shad Thaxton, Saurav Guha, Carol H. Jin, Brian K. Suarez, William J. Catalona, Ranjan Deka

Journal:

Year:

2007

Language:

english

File:

PDF, 441 KB

english, 2007

5

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Qingjiong Zhang, Fareeha Zulfiqar, Xueshan Xiao, S. Amer Riazuddin, Zahoor Ahmad, Raphael Caruso, Ian MacDonald, Paul Sieving, Sheikh Riazuddin, J. Fielding Hejtmancik

Journal:

Year:

2007

Language:

english

File:

PDF, 457 KB

english, 2007

6

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

Sylvain Hanein, Alexandra Dürr, Pascale Ribai, Sylvie Forlani, Anne-Louise Leutenegger, Isabelle Nelson, Marie-Claude Babron, Nizar Elleuch, Christel Depienne, Céline Charon, Alexis Brice, Giovanni St

Journal:

Year:

2007

Language:

english

File:

PDF, 659 KB

english, 2007

7

Refinement of the genetic cause of ATR-16

Cornelis L. Harteveld, Marjolein Kriek, Emilia K. Bijlsma, Zoran Erjavec, Deepak Balak, Marion Phylipsen, Astrid Voskamp, Emmanora di Capua, Stefan J. White, Piero C. Giordano

Journal:

Year:

2007

Language:

english

File:

PDF, 305 KB

english, 2007

8

The effects of polymorphisms in genes from the renin–angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context

Folkert W. Asselbergs, Scott M. Williams, Patricia R. Hebert, Christopher S. Coffey, Hans L. Hillege, Harold Snieder, Gerjan Navis, Douglas E. Vaughan, Wiek H. van Gilst, Jason H. Moore

Journal:

Year:

2007

Language:

english

File:

PDF, 371 KB

english, 2007

9

Multilocus OCA2 genotypes specify human iris colors

Tony Frudakis, Timothy Terravainen, Matthew Thomas

Journal:

Year:

2007

Language:

english

File:

PDF, 708 KB

english, 2007

10

Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts

Mervi Alanne, Kati Kristiansson, Kirsi Auro, Kaisa Silander, Kari Kuulasmaa, Leena Peltonen, Veikko Salomaa, Markus Perola

Journal:

Year:

2007

Language:

english

File:

PDF, 492 KB

english, 2007

11

Genetic variation in prehistoric Sardinia

David Caramelli, Cristiano Vernesi, Simona Sanna, Lourdes Sampietro, Martina Lari, Loredana Castrì, Giuseppe Vona, Rosalba Floris, Paolo Francalacci, Robert Tykot, Antonella Casoli, Jaume Bertranpetit

Journal:

Year:

2007

Language:

english

File:

PDF, 799 KB

english, 2007

12

Germ-line DNA copy number variation frequencies in a large North American population

George Zogopoulos, Kevin C. H. Ha, Faisal Naqib, Sara Moore, Hyeja Kim, Alexandre Montpetit, Frederick Robidoux, Philippe Laflamme, Michelle Cotterchio, Celia Greenwood, Stephen W. Scherer, Brent Zank

Journal:

Year:

2007

Language:

english

File:

PDF, 433 KB

english, 2007

13

Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee

Florian O. Losch, Anne Bredenbeck, Verena M. Hollstein, Peter Walden, Paul Wrede

Journal:

Year:

2007

Language:

english

File:

PDF, 297 KB

english, 2007

14

Progress in defining the molecular biology of age related macular degeneration

Andrew Lotery, Dorothy Trump

Journal:

Year:

2007

Language:

english

File:

PDF, 654 KB

english, 2007

15

Y chromosomes of prehistoric people along the Yangtze River

Hui Li, Ying Huang, Laura F. Mustavich, Fan Zhang, Jing-Ze Tan, Ling-E Wang, Ji Qian, Meng-He Gao, Li Jin

Journal:

Year:

2007

Language:

english

File:

PDF, 255 KB

english, 2007

16

Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease

Zhiyong Chen, Megumi Takahashi, Taeko Naruse, Toshiaki Nakajima, Yi-Wen Chen, Yoshinori Inoue, Isao Ishikawa, Takehisa Iwai, Akinori Kimura

Journal:

Year:

2007

Language:

english

File:

PDF, 277 KB

english, 2007

17

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum

Bassam R. Ali, Steve Jeffery, Neha Patel, Lorna E. Tinworth, Nagwa Meguid, Michael A. Patton, Ali R. Afzal

Journal:

Year:

2007

Language:

english

File:

PDF, 437 KB

english, 2007

18

In vitro and ex vivo suppression by aminoglycosides ofPCDH15nonsense mutations underlying type 1 Usher syndrome

Annie Rebibo-Sabbah, Igor Nudelman, Zubair M. Ahmed, Timor Baasov, Tamar Ben-Yosef

Journal:

Year:

2007

Language:

english

File:

PDF, 421 KB

english, 2007

19

Novel human pathological mutations

Journal:

Year:

2007

Language:

english

File:

PDF, 104 KB

english, 2007

20

Polymorphisms in the 3′ UTR in the neurocalcin δ gene affect mRNA stability, and confer susceptibility to diabetic nephropathy

Masumi Kamiyama, Masaaki Kobayashi, Shin-ichi Araki, Aritoshi Iida, Tatsuhiko Tsunoda, Koichi Kawai, Masahito Imanishi, Makoto Nomura, Tetsuya Babazono, Yasuhiko Iwamoto, Atsunori Kashiwagi, Kohei Kak

Journal:

Year:

2007

Language:

english

File:

PDF, 532 KB

english, 2007

21

Editorial

David N. Cooper, Thomas J. Hudson

Journal:

Year:

2007

Language:

english

File:

PDF, 113 KB

english, 2007

22

Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study

Hind Muallem, Kari E. North, Masao Kakoki, Mary K. Wojczynski, Xia Li, Megan Grove, Eric Boerwinkle, Kirk C. Wilhelmsen, Gerardo Heiss, Nobuyo Maeda

Journal:

Year:

2007

Language:

english

File:

PDF, 152 KB

english, 2007

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