Volume 19; Issue 2

European Journal of Human Genetics

Volume 19; Issue 2

1

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Krumbiegel, Mandy, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula, Uebe, Steffen, Zenkel, Matthias, Mardin, Christian Y, Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Becker, Christian

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 707 KB

english, 2010

2

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

Arrigoni, Francesca I, Matarin, Mar, Thompson, Pamela J, Michaelides, Michel, McClements, Michelle E, Redmond, Elizabeth, Clarke, Lindsey, Ellins, Elizabeth, Mohamed, Saifullah, Pavord, Ian

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 400 KB

english, 2010

3

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Boyd, Patricia Anne, Loane, Maria, Garne, Ester, Khoshnood, Babak, Dolk, Helen

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 302 KB

english, 2010

4

Genomic analysis of partial 21q monosomies with variable phenotypes

Roberson, Elisha D O, Wohler, Elizabeth Squibb, Hoover-Fong, Julie E, Lisi, Emily, Stevens, Eric L, Thomas, George H, Leonard, Jay, Hamosh, Ada, Pevsner, Jonathan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

5

In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations

Martínez-Cruz, Begoña, Vitalis, Renaud, Ségurel, Laure, Austerlitz, Frédéric, Georges, Myriam, Théry, Sylvain, Quintana-Murci, Lluis, Hegay, Tatyana, Aldashev, Almaz, Nasyrova, Firuza

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 683 KB

english, 2010

6

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Di

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 546 KB

english, 2010

7

Genome-wide association of breast cancer: composite likelihood with imputed genotypes

Politopoulos, Ioannis, Gibson, Jane, Tapper, William, Ennis, Sarah, Eccles, Diana, Collins, Andrew

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

8

Estimating penetrance from multiple case families with predisposing mutations: extension of the ‘genotype-restricted likelihood’ (GRL) method

Bonaïti, Bernard, Bonadona, Valérie, Perdry, Hervé, Andrieu, Nadine, Bonaïti-Pellié, Catherine

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 328 KB

english, 2010

9

Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome

McAllister, Marion, Dunn, Graham, Todd, Chris

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 257 KB

english, 2010

10

Does heritability hide in epistasis between linked SNPs?

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

11

The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups

Delfin, Frederick, Salvador, Jazelyn M, Calacal, Gayvelline C, Perdigon, Henry B, Tabbada, Kristina A, Villamor, Lilian P, Halos, Saturnina C, Gunnarsdóttir, Ellen, Myles, Sean, Hughes, David A

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 590 KB

english, 2010

12

Gene-based interaction analysis by incorporating external linkage disequilibrium information

He, Jing, Wang, Kai, Edmondson, Andrew C, Rader, Daniel J, Li, Chun, Li, Mingyao

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 604 KB

english, 2010

13

Discriminative accuracy of genomic profiling comparing multiplicative and additive risk models

Moonesinghe, Ramal, Khoury, Muin J, Liu, Tiebin, Janssens, A Cecile JW

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 366 KB

english, 2010

14

Advanced age increases chromosome structural abnormalities in human spermatozoa

Templado, Cristina, Donate, Anna, Giraldo, Jesús, Bosch, Mercè, Estop, Anna

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

15

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Schaaf, Christian P, Goin-Kochel, Robin P, Nowell, Kerri P, Hunter, Jill V, Aleck, Kirk A, Cox, Sarah, Patel, Ankita, Bacino, Carlos A, Shinawi, Marwan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 297 KB

english, 2010

16

Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

Zaragoza, Michael V, Brandon, Martin C, Diegoli, Marta, Arbustini, Eloisa, Wallace, Douglas C

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 605 KB

english, 2010

17

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Kleefstra, Tjitske, Wortmann, Saskia B, Rodenburg, Richard J T, Bongers, Ernie M H F, Hadzsiev, Kinga, Noordam, Cees, van den Heuvel, Lambert P, Nillesen, Willy M, Hollody, Katalin, Gillessen-Kaesbach

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 425 KB

english, 2010

18

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Zollino, Marcella, Gurrieri, Fiorella, Orteschi, Daniela, Marangi, Giuseppe, Leuzzi, Vincenzo, Neri, Giovanni

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 229 KB

english, 2010

19

Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene

Windelinckx, An, De Mars, Gunther, Huygens, Wim, Peeters, Maarten W, Vincent, Barbara, Wijmenga, Cisca, Lambrechts, Diether, Delecluse, Christophe, Roth, Stephen M, Metter, E Jeffrey

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.03 MB

english, 2010

20

Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations

Chen, Fang, Stram, Daniel O, Le Marchand, Loïc, Monroe, Kristine R, Kolonel, Laurence N, Henderson, Brian E, Haiman, Christopher A

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

21

Does the HSD17B10 gene escape from X-inactivation?

He, Xue-Ying, Dobkin, Carl, Yang, Song-Yu

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

22

Reply to He et al

Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Mila, M, Briones, Paz, García-Cazorla, Ma Angeles, Campistol, Jaume, García-Villoria, Judit, Gort, Laura, Madrigal, Irene

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

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