Volume 16; Issue 5

European Journal of Human Genetics

Volume 16; Issue 5

1

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

Porter, Forbes D

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

2

The success of the genome-wide association approach: a brief story of a long struggle

Seng, Ku Chee, Seng, Chia Kee

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 181 KB

english, 2008

3

Memories from our genes: Genes, Culture, and Human Evolution: A Synthesis

Novelli, Giuseppe, Contino, Gianmarco

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 46 KB

english, 2008

4

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients

Steinke, Verena, Rahner, Nils, Morak, Monika, Keller, Gisela, Schackert, Hans K, Görgens, Heike, Schmiegel, Wolff, Royer-Pokora, Brigitte, Dietmaier, Wolfgang, Kloor, Matthias

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 110 KB

english, 2008

5

Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes

Scott, Rodney J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 60 KB

english, 2008

6

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Everett, Kate, Chioza, Barry, Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dulac, Olivier, Eeg-Olofsson, Orvar, Feucht, Martha

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 51 KB

english, 2008

7

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Lezirovitz, Karina, Pardono, Eliete, de Mello Auricchio, Maria TB, de Carvalho e Silva, Fernando L, Lopes, Juliana J, Abreu-Silva, Ronaldo S, Romanos, Jihane, Batissoco, Ana C, Mingroni-Netto, Regina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 35 KB

english, 2008

8

Searching for genes influencing a complex disease: the case of coeliac disease

Naluai, Åsa Torinsson, Ascher, Henry, Nilsson, Staffan, Wahlström, Jan

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 204 KB

english, 2007

9

Warfarin Pharmacogenomics: A big step forward for individualized medicine: enlightened dosing of warfarin

Elias, Darlene J, Topol, Eric J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

10

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation

Bagnall, Richard D, Roberts, Roland G, Mirza, Muddassar M, Torigoe, Toshihiko, Prescott, Natalie J, Mathew, Christopher G

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 187 KB

english, 2008

11

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach

Tomiuk, Jürgen, Bachmann, Lutz, Bauer, Claudia, Rolfs, Arndt, Schöls, Ludger, Roos, Christian, Zischler, Hans, Schuler, Mathias M, Bruntner, Silke, Riess, Olaf

Journal:

European Journal of Human Genetics

Year:

2008

File:

PDF, 33 KB

2008

12

The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity

Guo, Guang, Ou, Xiao-Ming, Roettger, Michael, Shih, Jean C

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 176 KB

english, 2008

13

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

Hilgert, Nele, Topsakal, Vedat, van Dinther, Joost, Offeciers, Erwin, Van de Heyning, Paul, Van Camp, Guy

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 334 KB

english, 2008

14

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

Priolo, Manuela, Sparago, Angela, Mammì, Corrado, Cerrato, Flavia, Laganà, Carmelo, Riccio, Andrea

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 245 KB

english, 2008

15

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

Steinmann, Katharina, Kluwe, Lan, Cooper, David N, Brems, Hilde, De Raedt, Thomas, Legius, Eric, Mautner, Viktor-Felix, Kehrer-Sawatzki, Hildegard

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 171 KB

english, 2008

16

The genetic architecture of fasting plasma triglyceride response to fenofibrate treatment

Smith, Jennifer A, Arnett, Donna K, Kelly, Reagan J, Ordovas, Jose M, Sun, Yan V, Hopkins, Paul N, Hixson, James E, Straka, Robert J, Peacock, James M, Kardia, Sharon L R

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 315 KB

english, 2008

17

Composite measure of linkage disequilibrium for testing interaction between unlinked loci

Wu, Xuesen, Jin, L, Xiong, Momiao

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 142 KB

english, 2008

18

Sporadic mutations in melanocortin receptor 3 in morbid obese individuals

Mencarelli, Monica, Walker, Gillian E, Maestrini, Sabrina, Alberti, Luisella, Verti, Barbara, Brunani, Amelia, Petroni, Maria Letizia, Tagliaferri, Mariantonella, Liuzzi, Antonio, Di Blasio, Anna Mari

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 157 KB

english, 2008

19

Familial deletion within NLGN4 associated with autism and Tourette syndrome

Lawson-Yuen, Amy, Saldivar, Juan-Sebastian, Sommer, Steve, Picker, Jonathan

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

20

Evaluation of coverage variation of SNP chips for genome-wide association studies

Li, Mingyao, Li, Chun, Guan, Weihua

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 556 KB

english, 2008

21

HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort

van Vliet-Ostaptchouk, Jana V, Onland-Moret, N Charlotte, van Haeften, Timon W, Franke, Lude, Elbers, Clara C, Shiri-Sverdlov, Ronit, van der Schouw, Yvonne T, Hofker, Marten H, Wijmenga, Cisca

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

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