Volume 20; Issue 3

European Journal of Human Genetics

Volume 20; Issue 3

1

Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists

Herrera, Kristian J, Lowery, Robert K, Hadden, Laura, Calderon, Silvia, Chiou, Carolina, Yepiskoposyan, Levon, Regueiro, Maria, Underhill, Peter A, Herrera, Rene J

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 507 KB

english, 2011

2

Genome-wide association study of coronary artery disease in the Japanese

Takeuchi, Fumihiko, Yokota, Mitsuhiro, Yamamoto, Ken, Nakashima, Eitaro, Katsuya, Tomohiro, Asano, Hiroyuki, Isono, Masato, Nabika, Toru, Sugiyama, Takao, Fujioka, Akihiro, Awata, Nobuhisa, Ohnaka, Ke

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 606 KB

english, 2012

3

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 579 KB

english, 2012

4

Clinical utility gene card for: Trimethylaminuria

Shephard, Elizabeth A, Treacy, Eileen P, Phillips, Ian R

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 146 KB

english, 2012

5

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Jacquemin, Virginie, Rieunier, Guillaume, Jacob, Sandrine, Bellanger, Dorine, d'Enghien, Catherine Dubois, Laugé, Anthony, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 788 KB

english, 2012

6

Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

Veenma, Danielle, Brosens, Erwin, de Jong, Elisabeth, van de Ven, Cees, Meeussen, Connie, Cohen-Overbeek, Titia, Boter, Marjan, Eussen, Hubertus, Douben, Hannie, Tibboel, Dick, de Klein, Annelies

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

7

Alagille syndrome: pathogenesis, diagnosis and management

Turnpenny, Peter D, Ellard, Sian

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 449 KB

english, 2012

8

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Forstbauer, Lina M, Brockschmidt, Felix F, Moskvina, Valentina, Herold, Christine, Redler, Silke, Herzog, Alexandra, Hillmer, Axel M, Meesters, Christian, Heilmann, Stefanie, Albert, Florian, Alblas,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

9

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Cla

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 445 KB

english, 2012

10

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Delphin, Nathalie, Hanein, Sylvain, Taie, Lucas Fares, Zanlonghi, Xavier, Bonneau, Dominique, Moisan, Jean-Paul, Boyle, Christine, Nitschke, Patrick, Pruvost, Solenn, Bonnefont, Jean-Paul, Munnich, Ar

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

11

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

Kim, Soo-Jeong, Miller, Jennifer L, Kuipers, Paul J, German, Jennifer Ruth, Beaudet, Arthur L, Sahoo, Trilochan, Driscoll, Daniel J

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 430 KB

english, 2012

12

Clinical utility gene card for: Adrenoleukodystrophy

Krasemann, Ernst, Kemp, Stephan, Gal, Andreas

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 96 KB

english, 2012

13

Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts

Lopez, Lorna M, Harris, Sarah E, Luciano, Michelle, Liewald, Dave, Davies, Gail, Gow, Alan J, Tenesa, Albert, Payton, Antony, Ke, Xiayi, Whalley, Lawrence J, Fox, Helen, Haggerty, Paul, Ollier, Willia

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 313 KB

english, 2012

14

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Cla

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

15

Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons

Mengel-From, Jonas, Thinggaard, Mikael, Christiansen, Lene, Vaupel, James W, Ørstavik, Karen Helene, Christensen, Kaare

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

16

Researchers’ opinions towards the communication of results of biobank research: a survey study

Meulenkamp, Tineke M, Gevers, Sjef JK, Bovenberg, Jasper A, Smets, Ellen MA

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 210 KB

english, 2012

17

Clinical utility gene card for: acrodermatitis enteropathica

Küry, Sébastien, Kharfi, Monia, Schmitt, Sébastien, Bézieau, Stéphane

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012

18

First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Pasmant, Eric, Goussard, Philippe, Baranes, Laetitia, Laurendeau, Ingrid, Quentin, Samuel, Ponsot, Philippe, Consigny, Yann, Farges, Olivier, Condat, Bertrand, Vidaud, Dominique, Vidaud, Michel, Chen,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 613 KB

english, 2012

19

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

Bourdeaut, Franck, Ferrand, Sandrine, Brugières, Laurence, Hilbert, Marjorie, Ribeiro, Agnès, Lacroix, Ludovic, Bénard, Jean, Combaret, Valérie, Michon, Jean, Valteau-Couanet, Dominique, Isidor, Bertr

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 625 KB

english, 2012

20

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

White, Stefan, Hewitt, Jacqueline, Turbitt, Erin, van der Zwan, Yvonne, Hersmus, Remko, Drop, Stenvert, Koopman, Peter, Harley, Vincent, Cools, Martine, Looijenga, Leendert, Sinclair, Andrew

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 297 KB

english, 2012

21

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Ronchi, Dario, Sciacco, Monica, Bordoni, Andreina, Raimondi, Monika, Ripolone, Michela, Fassone, Elisa, Di Fonzo, Alessio, Rizzuti, Mafalda, Ciscato, Patrizia, Cosi, Alessandra, Servida, Maura, Moggio

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

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