Volume 20; Issue 12

European Journal of Human Genetics

Volume 20; Issue 12

1

Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus

Rootsi, Siiri, Myres, Natalie M, Lin, Alice A, Järve, Mari, King, Roy J, Kutuev, Ildus, Cabrera, Vicente M, Khusnutdinova, Elza K, Varendi, Kärt, Sahakyan, Hovhannes, Behar, Doron M, Khusainova, Rita,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 533 KB

english, 2012

2

Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression

Schmitt, Ina, Wüllner, Ullrich, van Rooyen, Jan Pierre, Khazneh, Hassan, Becker, Julian, Volk, Alexander, Kubisch, Christian, Becker, Tim, Kostic, Vladimir S, Klein, Christine, Ramirez, Alfredo

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 330 KB

english, 2012

3

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tarta

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 378 KB

english, 2012

4

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

Reis, Linda M, Tyler, Rebecca C, Volkmann Kloss, Bethany A, Schilter, Kala F, Levin, Alex V, Lowry, R Brian, Zwijnenburg, Petra J G, Stroh, Eliza, Broeckel, Ulrich, Murray, Jeffrey C, Semina, Elena V

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 700 KB

english, 2012

5

MLH1 methylation screening is effective in identifying epimutation carriers

Pineda, Marta, Mur, Pilar, Iniesta, María Dolores, Borràs, Ester, Campos, Olga, Vargas, Gardenia, Iglesias, Sílvia, Fernández, Anna, Gruber, Stephen B, Lázaro, Conxi, Brunet, Joan, Navarro, Matilde, B

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

6

Quantifying harmful mutations in human populations

Subramanian, Sankar

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 341 KB

english, 2012

7

A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity

Mencarelli, Monica, Zulian, Alessandra, Cancello, Raffaella, Alberti, Luisella, Gilardini, Luisa, Di Blasio, Anna Maria, Invitti, Cecilia

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 651 KB

english, 2012

8

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Shoubridge, Cheryl, Gardner, Alison, Schwartz, Charles E, Hackett, Anna, Field, Michael, Gecz, Jozef

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 211 KB

english, 2012

9

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

Berwouts, Sarah, Girodon, Emmanuelle, Schwarz, Martin, Stuhrmann, Manfred, Morris, Michael A, Dequeker, Elisabeth

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 723 KB

english, 2012

10

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 486 KB

english, 2012

11

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

Halgren, Christina, Bache, Iben, Bak, Mads, Myatt, Mikkel Wanting, Anderson, Claire Marie, Brøndum-Nielsen, Karen, Tommerup, Niels

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 554 KB

english, 2012

12

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Bello, Luca, Melacini, Paola, Pezzani, Raffaele, D'Amico, Adele, Piva, Luisa, Leonardi, Emanuela, Torella, Annalaura, Soraru, Gianni, Palmieri, Arianna, Smaniotto, Gessica, Gavassini, Bruno F, Vianell

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

13

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

Allou, Lila, Lambert, Laetitia, Amsallem, Daniel, Bieth, Eric, Edery, Patrick, Destrée, Anne, Rivier, François, Amor, David, Thompson, Elizabeth, Nicholl, Julian, Harbord, Michael, Nemos, Christophe,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.55 MB

english, 2012

14

Copy number variation in patients with cervical artery dissection

Grond-Ginsbach, Caspar, Chen, Bowang, Pjontek, Rastislav, Wiest, Tina, Jiang, Yanxiang, Burwinkel, Barbara, Tchatchou, Sandrine, Krawczak, Michael, Schreiber, Stefan, Brandt, Tobias, Kloss, Manja, Arn

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 232 KB

english, 2012

15

Analytical and simulation methods for estimating the potential predictive ability of genetic profiling: a comparison of methods and results

Kundu, Suman, Karssen, Lennart C, Janssens, A Cecile JW

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

16

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q

Dekel-Naftali, Michal, Aviram-Goldring, Ayala, Litmanovitch, Talia, Shamash, Jana, Reznik-Wolf, Haike, Laevsky, Ilana, Amit, Michal, Itskovitz-Eldor, Joseph, Yung, Yuval, Hourvitz, Ariel, Schiff, Eyal

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 974 KB

english, 2012

17

Inferring separate parental admixture components in unknown DNA samples using autosomal SNPs

Crouch, Daniel J M, Weale, Michael E

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 2.16 MB

english, 2012

18

Efficiency of trans-ethnic genome-wide meta-analysis and fine-mapping

Twee-Hee Ong, Rick, Wang, Xu, Liu, Xuanyao, Teo, Yik-Ying

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 2.19 MB

english, 2012

19

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

Tamura, Deborah, Khan, Sikandar G, Merideth, Melissa, DiGiovanna, John J, Tucker, Margaret A, Goldstein, Alisa M, Oh, Kyu-Seon, Ueda, Takahiro, Boyle, Jennifer, Sarihan, Mansi, Kraemer, Kenneth H

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 161 KB

english, 2012