Volume 18; Issue 11

European Journal of Human Genetics

Volume 18; Issue 11

1

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

Sequeiros, Jorge, Seneca, Sara, Martindale, Joanne

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 335 KB

english, 2010

2

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 469 KB

english, 2010

3

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

Keller, Lina, Welander, Hedvig, Chiang, Huei-Hsin, Tjernberg, Lars O, Nennesmo, Inger, Wallin, Åsa K, Graff, Caroline

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 642 KB

english, 2010

4

Genetic male infertility and mutation of CATSPER ion channels

Hildebrand, Michael S, Avenarius, Matthew R, Fellous, Marc, Zhang, Yuzhou, Meyer, Nicole C, Auer, Jana, Serres, Catherine, Kahrizi, Kimia, Najmabadi, Hossein, Beckmann, Jacques S

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 374 KB

english, 2010

5

Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 92 KB

english, 2010

6

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

Sequeiros, Jorge, Martindale, Joanne, Seneca, Sara

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

7

5q11.2 deletion in a patient with tracheal agenesis

Poddighe, Pino J, Nikkels, Peter G J, de Krijger, Ronald R, Tibboel, Dick, de Klein, Annelies, de Jong, Elisabeth M, Douben, Hannie, Eussen, Bert H, Felix, Janine F, Wessels, Marja W

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

8

Population structure and genome-wide patterns of variation in Ireland and Britain

O'Dushlaine, Colm T, Morris, Derek, Moskvina, Valentina, Kirov, George, Consortium, International Schizophrenia, Gill, Michael, Corvin, Aiden, Wilson, James F, Cavalleri, Gianpiero L

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 454 KB

english, 2010

9

Chadic languages and Y haplogroups

Lancaster, Andrew

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 171 KB

english, 2010

10

Reply to Lancaster

Cruciani, Fulvio, Trombetta, Beniamino, Sellitto, Daniele, Massaia, Andrea, Destro-Bisol, Giovanni, Watson, Elizabeth, Colomb, Eliane Beraud, Dugoujon, Jean-Michel, Moral, Pedro, Scozzari, Rosaria

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 131 KB

english, 2010

11

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome

Summers, Kim M, Raza, Sobia, van Nimwegen, Erik, Freeman, Thomas C, Hume, David A

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 369 KB

english, 2010

12

Genes predict village of origin in rural Europe

O'Dushlaine, Colm, McQuillan, Ruth, Weale, Michael E, Crouch, Daniel J M, Johansson, Åsa, Aulchenko, Yurii, Franklin, Christopher S, Polašek, Ozren, Fuchsberger, Christian, Corvin, Aiden

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

13

A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

Jiang, Chao Qiang, Liu, Bin, Cheung, Bernard MY, Lam, Tai Hing, Lin, Jie Ming, Li Jin, Ya, Yue, Xiao Jun, Ong, Kwok Leung, Tam, Sidney, Wong, Ka Sing

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 400 KB

english, 2010

14

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

Marques-Pinheiro, Alice, Marduel, Marie, Rabès, Jean-Pierre, Devillers, Martine, Villéger, Ludovic, Allard, Delphine, Weissenbach, Jean, Guerin, Maryse, Zair, Yassine, Erlich, Danièle

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 375 KB

english, 2010

15

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation

Low, Daren, Chen, Ken-Shiung

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 584 KB

english, 2010

16

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

Carr, Christopher W, Moreno-De-Luca, Daniel, Parker, Colette, Zimmerman, Holly H, Ledbetter, Nikki, Martin, Christa Lese, Dobyns, William B, Abdul-Rahman, Omar A

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 322 KB

english, 2010

17

Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate

Cummings, Nik, Dyer, Thomas D, Kotea, Navaratnam, Kowlessur, Sudhir, Chitson, Pierrot, Zimmet, Paul, Blangero, John, Jowett, Jeremy B M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 254 KB

english, 2010

18

Dengue hemorrhagic fever is associated with polymorphisms in JAK1

Blanton, Ronald E, Parrado, Antonio R, Melo, Paulo S, Morato, Vanessa G, Reis, Eliana AG, Dias, Juarez P, Castro, Jesuina M, Vasconcelos, Pedro FC, Goddard, Katrina AB, Silva, Luciano K

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 446 KB

english, 2010

19

Hypothetical and factual willingness to participate in biobank research

Johnsson, Linus, Helgesson, Gert, Rafnar, Thorunn, Halldorsdottir, Ingibjorg, Chia, Kee-Seng, Eriksson, Stefan, Hansson, Mats G

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 249 KB

english, 2010

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