Volume 16; Issue 11

European Journal of Human Genetics

Volume 16; Issue 11

1

Testing replication of a 5-SNP set for general cognitive ability in six population samples

Visscher, Peter M, Harris, Sarah E, Luciano, Michelle, Lind, Penelope A, Deary, Ian J, Payton, Antony, Posthuma, Danielle, Butcher, Lee M, Bochdanovits, Zoltan, Whalley, Lawrence J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

2

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

Rejeb, Imen, Saillour, Yoann, Castelnau, Laetitia, Julien, Cédric, Bienvenu, Thierry, Taga, Patricia, Chaabouni, Habiba, Chelly, Jamel, Jemaa, Lamia Ben, Bahi-Buisson, Nadia

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 176 KB

english, 2008

3

Health first, genetics second: exploring families' experiences of communicating genetic information

Forrest, Laura E, Curnow, Lisette, Delatycki, Martin B, Skene, Loane, Aitken, MaryAnne

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 117 KB

english, 2008

4

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Wilson, Heather L, Crolla, John A, Walker, Dena, Artifoni, Lina, Dallapiccola, Bruno, Takano, Takako, Vasudevan, Pradeep, Huang, Shuwen, Maloney, Vivienne, Yobb, Twila

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 354 KB

english, 2008

5

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Verschuuren-Bemelmans, Corien C, Winter, Pia, Sival, Deborah A, Elting, Jan-Willem, Brouwer, Oebele F, Müller, Ulrich

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 103 KB

english, 2008

6

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

Caciotti, Anna, Carraresi, Laura, Donati, Maria Alice, Mignani, Renzo, Parini, Rossella, Filocamo, Mirella, Soliani, Fausto, Simi, Lisa, Guerrini, Renzo, Filoni, Camilla

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 252 KB

english, 2008

7

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

Dang, Vinh T, Kassahn, Karin S, Marcos, Andrés Esteban, Ragan, Mark A

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 297 KB

english, 2008

8

The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion

Flomen, Rachel H, Davies, Angela F, Di Forti, Marta, Cascia, Caterina La, Mackie-Ogilvie, Caroline, Murray, Robin, Makoff, Andrew J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 366 KB

english, 2008

9

Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians

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

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 276 KB

english, 2008

10

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels

Almasy, Laura, Lathrop, Mark, Blangero, John, Blanco-Vaca, Francisco, Fontcuberta, Jordi, Soria, José Manuel, López, Sonia, Buil, Alfonso, Ordoñez, Jordi, Souto, Juan Carlos

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

11

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies

Byrne, Enda M, McRae, Allan F, Zhao, Zhen-Zhen, Martin, Nicholas G, Montgomery, Grant W, Visscher, Peter M

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

12

Twenty-year trends in prevalence and survival of Down syndrome

Irving, Claire, Basu, Anna, Richmond, Sam, Burn, John, Wren, Christopher

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

13

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

van Gijn, Marielle E, Soler, Stéphan, de la Chapelle, Claire, Mulder, Marcel, Ritorre, Cécile, Kriek, Marjolein, Philibert, Laurent, van der Wielen, Michiel, Frenkel, Joost, Grandemange, Sylvie

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

14

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development

Lybæk, Helle, Meza-Zepeda, Leonardo A, Kresse, Stine H, Høysæter, Trude, Steen, Vidar M, Houge, Gunnar

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 365 KB

english, 2008

15

Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies

Johansson, Åsa, Ingman, Max, Mack, Steven J, Erlich, Henry, Gyllensten, Ulf

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 201 KB

english, 2008

16

PTEN hamartoma tumor syndromes

Blumenthal, Gideon M, Dennis, Phillip A

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 246 KB

english, 2008

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