Volume 22; Issue 7

European Journal of Human Genetics

Volume 22; Issue 7

1

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

Aretz, Stefan, Tricarico, Rossella, Papi, Laura, Spier, Isabel, Pin, Elisa, Horpaopan, Sukanya, Cordisco, Emanuela Lucci, Pedroni, Monica, Stienen, Dietlinde, Gentile, Annamaria, Panza, Anna, Piepoli,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 617 KB

english, 2014

2

Distribution of ancestral chromosomal segments in admixed genomes and its implications for inferring population history and admixture mapping

Jin, Wenfei, Li, Ran, Zhou, Ying, Xu, Shuhua

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.87 MB

english, 2014

3

Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers

Campanella, Nathália C, Berardinelli, Gustavo N, Scapulatempo-Neto, Cristovam, Viana, Danilo, Palmero, Edenir I, Pereira, Rui, Reis, Rui M

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 489 KB

english, 2014

4

Structural genomic variation in childhood epilepsies with complex phenotypes

Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 275 KB

english, 2014

5

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 648 KB

english, 2014

6

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

Leutermann, Ruth, Sheikhzadeh, Sara, Brockstädt, Lars, Rybczynski, Meike, van Rahden, Vanessa, Kutsche, Kerstin, von Kodolitsch, Yskert, Rosenberger, Georg

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 893 KB

english, 2014

7

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

Beck, Tim, Hastings, Robert K, Gollapudi, Sirisha, Free, Robert C, Brookes, Anthony J

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 930 KB

english, 2014

8

What hinders minority ethnic access to cancer genetics services and what may help?

Allford, Anna, Qureshi, Nadeem, Barwell, Julian, Lewis, Celine, Kai, Joe

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 411 KB

english, 2014

9

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 659 KB

english, 2014

10

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening

Ioannou, Liane, Massie, John, Lewis, Sharon, Collins, Veronica, McClaren, Belinda, Delatycki, Martin B

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.37 MB

english, 2014

11

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Gardeitchik, Thatjana, Mohamed, Miski, Fischer, Björn, Lammens, Martin, Lefeber, Dirk, Lace, Baiba, Parker, Michael, Kim, Ki-Joong, Lim, Bing C, Häberle, Johannes, Garavelli, Livia, Jagadeesh, Sujatha

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

12

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barb

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 976 KB

english, 2014

13

Genealogical analysis as a new approach for the investigation of drug intolerance heritability

Tremblay, Marc, Bouhali, Tarek, Gaudet, Daniel, Brisson, Diane

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

14

Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians

Voruganti, V Saroja, Franceschini, Nora, Haack, Karin, Laston, Sandra, MacCluer, Jean W, Umans, Jason G, Comuzzie, Anthony G, North, Kari E, Cole, Shelley A

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

15

Is a requirement of personalised assent realistic? A case from the GABRIEL project

Waligora, Marcin

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

16

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

Srebniak, Malgorzata I, Diderich, Karin EM, Govaerts, Lutgarde CP, Joosten, Marieke, Riedijk, Sam, Galjaard, Robert Jan H, Van Opstal, Diane

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 148 KB

english, 2014

17

Clinical utility gene card for: Xeroderma pigmentosum

Schubert, Steffen, Lehmann, Janin, Kalfon, Limor, Slor, Hanoch, Falik-Zaccai, Tzipora C, Emmert, Steffen

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 207 KB

english, 2014

18

Reply to Waligora

Giesbertz, Noor A A, Bredenoord, Annelien L, van Delden, Johannes J M

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 115 KB

english, 2014

19

Clinical utility gene card for: Hyperlipoproteinemia, TYPE II

Kassner, Ursula, Wühle-Demuth, Marion, Missala, Isabelle, Humphries, Steve E, Steinhagen-Thiessen, Elisabeth, Demuth, Ilja

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 201 KB

english, 2014