Volume 21; Issue 6

European Journal of Human Genetics

Volume 21; Issue 6

1

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

Marconi, Caterina, Brunamonti Binello, Paolo, Badiali, Giovanni, Caci, Emanuela, Cusano, Roberto, Garibaldi, Joseph, Pippucci, Tommaso, Merlini, Alberto, Marchetti, Claudio, Rhoden, Kerry J, Galietta,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 892 KB

english, 2013

2

The role of GHR and IGF1 genes in the genetic determination of African pygmies’ short stature

Becker, Noémie SA, Verdu, Paul, Georges, Myriam, Duquesnoy, Philippe, Froment, Alain, Amselem, Serge, Le Bouc, Yves, Heyer, Evelyne

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 400 KB

english, 2013

3

Statistical tests for detecting associations with groups of genetic variants: generalization, evaluation, and implementation

Ferguson, John, Wheeler, William, Fu, YiPing, Prokunina-Olsson, Ludmila, Zhao, Hongyu, Sampson, Joshua

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 410 KB

english, 2013

4

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Wiśniowiecka-Kowalnik, Barbara, Kastory-Bronowska, Monika, Bartnik, Magdalena, Derwińska, Katarzyna, Dymczak-Domini, Wanda, Szumbarska, Dorota, Ziemka, Ewa, Szczałuba, Krzysztof, Sykulski, Maciej, Gam

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 595 KB

english, 2013

5

An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

Addis, Maria, Meloni, Cristiana, Tosetto, Enrica, Ceol, Monica, Cristofaro, Rosalba, Melis, Maria Antonietta, Vercelloni, Paolo, Del Prete, Dorella, Marra, Giuseppina, Anglani, Franca

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 652 KB

english, 2013

6

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

Ullmann, Urielle, Unuane, David, Velkeniers, Brigitte, Lissens, Willy, Wuyts, Wim, Bonduelle, Maryse

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 263 KB

english, 2013

7

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

Esko, Tõnu, Mezzavilla, Massimo, Nelis, Mari, Borel, Christelle, Debniak, Tadeusz, Jakkula, Eveliina, Julia, Antonio, Karachanak, Sena, Khrunin, Andrey, Kisfali, Peter, Krulisova, Veronika, Aušrelé Ku

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.58 MB

english, 2013

8

The next controversy in genetic testing: clinical data as trade secrets?

Cook-Deegan, Robert, Conley, John M, Evans, James P, Vorhaus, Daniel

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 210 KB

english, 2013

9

CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine

Kolbe, Ernst-Wolfgang, Tamm, Stephanie, Hedtfeld, Silke, Becker, Tim, Tümmler, Burkhard, Stanke, Frauke

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 577 KB

english, 2013

10

A tiered-layered-staged model for informed consent in personal genome testing

Bunnik, Eline M, Janssens, A Cecile J W, Schermer, Maartje H N

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 289 KB

english, 2013

11

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits

Meirelles, Osorio D, Ding, Jun, Tanaka, Toshiko, Sanna, Serena, Yang, Hsih-Te, Dudekula, Dawood B, Cucca, Francesco, Ferrucci, Luigi, Abecasis, Goncalo, Schlessinger, David

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

12

Clinical utility gene card for: osteogenesis imperfecta

van Dijk, Fleur S, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rusinska, Agnieszka, Semler, Oliver, Symoens, Sofie, Pals, Gerard

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 195 KB

english, 2013

13

Functional characterization of desmin mutant p.P419S

Brodehl, Andreas, Dieding, Mareike, Cakar, Hamdin, Klauke, Bärbel, Walhorn, Volker, Gummert, Jan, Anselmetti, Dario, Milting, Hendrik

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 501 KB

english, 2013

14

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Koutsopoulos, Olga S, Kretz, Christine, Weller, Claudia M, Roux, Aurelien, Mojzisova, Halina, Böhm, Johann, Koch, Catherine, Toussaint, Anne, Heckel, Emilie, Stemkens, Daphne, ter Horst, Simone A J, T

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.38 MB

english, 2013

15

Clinical utility gene card for: Pseudohypoparathyroidism

Mantovani, Giovanna, Linglart, Agnes, Garin, Intza, Silve, Caroline, Elli, Francesca M, de Nanclares, Guiomar Perez

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 225 KB

english, 2013

16

Reply to Brodehl et al

Hedberg, Carola, Melberg, Atle, Kuhl, Angelika, Jenne, Dieter, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 75 KB

english, 2013

17

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.35 MB

english, 2013

18

How can ethics relate to science? The case of stem cell research

Carvalho, Ana Sofia, Ramalho-Santos, João

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 225 KB

english, 2013

19

Clinical utility gene card for: familial polycythaemia vera

Hussein, Kais, Granot, Galit, Shpilberg, Ofer, Kreipe, Hans

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 186 KB

english, 2013

20

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

Vinther-Jensen, Tua, Ek, Jakob, Duno, Morten, Skovby, Flemming, Hjermind, Lena E, Nielsen, Jørgen E, Nielsen, Troels Tolstrup

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 701 KB

english, 2013

21

David Cox, a counsellor of geneticists

B van Ommen, GertJan

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 117 KB

english, 2013

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