Volume 114; Issue 1

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Human Genetics
Volume 114; Issue 1

Human Genetics

Volume 114; Issue 1

1

Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

Cristina Fraumene, Enrico Petretto, Andrea Angius, Mario Pirastu

Journal:

Year:

2003

Language:

english

File:

PDF, 343 KB

english, 2003

2

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated withTWISTdeletions: an improved strategy forTWISTmutation screening

Juanliang Cai, BarbaraK. Goodman, AnkitaS. Patel, JohnB. Mulliken, Lionel Maldergem, GeorgeE. Hoganson, WilliamA. Paznekas, Ziva Ben-Neriah, Ruth Sheffer, MichaelL. Cunningham, DonnaL. Daentl, Ethylin

Journal:

Year:

2003

Language:

english

File:

PDF, 408 KB

english, 2003

3

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

Heike Starke, Angela Nietzel, Anja Weise, Anita Heller, Kristin Mrasek, Britta Belitz, Christine Kelbova, Marianne Volleth, Beate Albrecht, Beate Mitulla, Ralf Trappe, Iris Bartels, Sabine Adolph, And

Journal:

Year:

2003

Language:

english

File:

PDF, 884 KB

english, 2003

4

Entropy-based SNP selection for genetic association studies

Jochen Hampe, Stefan Schreiber, Michael Krawczak

Journal:

Year:

2003

Language:

english

File:

PDF, 359 KB

english, 2003

5

Evidence of a founder effect for the 235delC mutation ofGJB2(connexin

Denise Yan, Hong-Joon Park, XiaoMei Ouyang, Arti Pandya, Katsumi Doi, Raadnabazar Erdenetungalag, LiLin Du, Naoki Matsushiro, WalterE. Nance, AndrewJ. Griffith, XueZhong Liu

Journal:

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

6

Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans

Han-Jun Jin, Kyoung-Don Kwak, MichaelF. Hammer, Yutaka Nakahori, Toshikatsu Shinka, Ju-Won Lee, Feng Jin, Xuming Jia, Chris Tyler-Smith, Wook Kim

Journal:

Year:

2003

Language:

english

File:

PDF, 285 KB

english, 2003

7

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

Christian Windpassinger, Klaus Wagner, Erwin Petek, Renate Fischer, Michaela Auer-Grumbach

Journal:

Year:

2003

Language:

english

File:

PDF, 301 KB

english, 2003

8

No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach

Johannes Schumacher, AndreasC.J. Otte, Tim Becker, Yuli Sun, ThomasF. Wienker, Brunhilde Wirth, Petra Franke, Rami Abou Jamra, Peter Propping, Jürgen Deckert, MarkusM. Nöthen, Sven Cichon

Journal:

Year:

2003

Language:

english

File:

PDF, 151 KB

english, 2003

9

Stephan Beck, Alexander Olek (eds): The Epigenome: Molecular Hide and Seek

Bernhard Horsthemke

Journal:

Year:

2003

Language:

english

File:

PDF, 82 KB

english, 2003

10

Mitochondrial portraits of the Madeira and Açores archipelagos witness different genetic pools of its settlers

António Brehm, Luísa Pereira, Toomas Kivisild, António Amorim

Journal:

Year:

2003

Language:

english

File:

PDF, 170 KB

english, 2003

11

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Claudia Helmken, Yvonne Hofmann, Frank Schoenen, Gabriela Oprea, Heidrun Raschke, Sabine Rudnik-Schöneborn, Klaus Zerres, Brunhilde Wirth

Journal:

Year:

2003

Language:

english

File:

PDF, 946 KB

english, 2003

12

Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients

JeanetteJ. McCarthy, Joanne Meyer, DavidJ. Moliterno, L.Kristin Newby, WilliamJ. Rogers, EricJ. Topol

Journal:

Year:

2003

Language:

english

File:

PDF, 240 KB

english, 2003

13

Mutational analysis ofBRAFandK-rasin gastric cancers: absence ofBRAFmutations in gastric cancers

Il-Jin Kim, Jae-Hyun Park, HioChung Kang, Yong Shin, Hye-Won Park, Hye-Rin Park, Ja-Lok Ku, Seok-Byung Lim, Jae-Gahb Park

Journal:

Year:

2003

Language:

english

File:

PDF, 162 KB

english, 2003

14

In vivo somatic microsatellite mutations identified in non-malignant human tissue

Kathy Mann, Celia Donaghue, CarolineMackie Ogilvie

Journal:

Year:

2003

Language:

english

File:

PDF, 378 KB

english, 2003

15

Peter McGuffin, Michael J. Owen, Irving I. Gottesman (editors) Psychiatric genetics and genomics

Journal:

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

16

Molecular analysis of congenital central hypoventilation syndrome

Ayako Sasaki, Masayo Kanai, Kazuki Kijima, Kazuhiro Akaba, Motoya Hashimoto, Hisaya Hasegawa, Shinsuke Otaki, Takenobu Koizumi, Satoshi Kusuda, Youhei Ogawa, Keiji Tuchiya, Wakako Yamamoto, Tomohiko N

Journal:

Year:

2003

Language:

english

File:

PDF, 125 KB

english, 2003

17

Susanne Hummel (editor) Ancient DNA typing: methods, strategies and applications

TerenceA. Brown, KeriA. Brown

Journal:

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

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