Volume 21; Issue 1

European Journal of Human Genetics

Volume 21; Issue 1

1

Publics and biobanks: Pan-European diversity and the challenge of responsible innovation

Gaskell, George, Gottweis, Herbert, Starkbaum, Johannes, Gerber, Monica M, Broerse, Jacqueline, Gottweis, Ursula, Hobbs, Abbi, Helén, Ilpo, Paschou, Maria, Snell, Karoliina, Soulier, Alexandra

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 458 KB

english, 2013

2

Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood

Mehta, Divya, Heim, Katharina, Herder, Christian, Carstensen, Maren, Eckstein, Gertrud, Schurmann, Claudia, Homuth, Georg, Nauck, Matthias, Völker, Uwe, Roden, Michael, Illig, Thomas, Gieger, Christia

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 455 KB

english, 2013

3

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Loane, Maria, Morris, Joan K, Addor, Marie-Claude, Arriola, Larraitz, Budd, Judith, Doray, Berenice, Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsøyr Melve, Kari, Latos-Bielen

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 671 KB

english, 2013

4

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

Saranjam, Hamid, Chopra, Sameer S, Levy, Harvey, Stubblefield, Barbara K, Maniwang, Emerson, Cohen, Ian J, Baris, Hagit, Sidransky, Ellen, Tayebi, Nahid

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

5

A guide to cancer genetics in clinical practice

Stoppa-Lyonnet, Dominique

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

6

Small effective population size and genetic homogeneity in the Val Borbera isolate

Colonna, Vincenza, Pistis, Giorgio, Bomba, Lorenzo, Mona, Stefano, Matullo, Giuseppe, Boano, Rosa, Sala, Cinzia, Viganò, Fiammetta, Torroni, Antonio, Achilli, Alessandro, Hooshiar Kashani, Baharak, Ma

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1022 KB

english, 2013

7

Bardet–Biedl syndrome

Forsythe, Elizabeth, Beales, Philip L

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 760 KB

english, 2013

8

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Thevenon, Julien, Callier, Patrick, Andrieux, Joris, Delobel, Bruno, David, Albert, Sukno, Sylvie, Minot, Delphine, Mosca Anne, Laure, Marle, Nathalie, Sanlaville, Damien, Bonnet, Marlène, Masurel-Pau

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 652 KB

english, 2013

9

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

Helderman-van den Enden, Apollonia T J M, Madan, Kamlesh, Breuning, Martijn H, van der Hout, Annemieke H, Bakker, Egbert, de Die-Smulders, Christine E M, Ginjaar, Hendrika B

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 394 KB

english, 2013

10

Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy

Chadderton, Naomi, Palfi, Arpad, Millington-Ward, Sophia, Gobbo, Oliverio, Overlack, Nora, Carrigan, Matthew, O'Reilly, Mary, Campbell, Matthew, Ehrhardt, Carsten, Wolfrum, Uwe, Humphries, Peter, Kenn

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.22 MB

english, 2013

11

Developing a policy for paediatric biobanks: principles for good practice

Hens, Kristien, Van El, Carla E, Borry, Pascal, Cambon-Thomsen, Anne, Cornel, Martina C, Forzano, Francesca, Lucassen, Anneke, Patch, Christine, Tranebjaerg, Lisbeth, Vermeulen, Eric, Salvaterra, Elen

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 302 KB

english, 2013

12

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

Guida, Valentina, Ferese, Rosangela, Rocchetti, Marcella, Bonetti, Monica, Sarkozy, Anna, Cecchetti, Serena, Gelmetti, Vania, Lepri, Francesca, Copetti, Massimiliano, Lamorte, Giuseppe, Cristina Digil

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.35 MB

english, 2013

13

REGENT: a risk assessment and classification algorithm for genetic and environmental factors

Crouch, Daniel JM, Goddard, Graham HM, Lewis, Cathryn M

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 403 KB

english, 2013

14

Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating

Flomen, Rachel H, Shaikh, Madiha, Walshe, Muriel, Schulze, Katja, Hall, Mei-Hua, Picchioni, Marco, Rijsdijk, Fruhling, Toulopoulou, Timothea, Kravariti, Eugenia, Murray, Robin M, Asherson, Philip, Mak

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 271 KB

english, 2013

15

Hierarchical clustering analysis of blood plasma lipidomics profiles from mono- and dizygotic twin families

Draisma, Harmen HM, Reijmers, Theo H, Meulman, Jacqueline J, van der Greef, Jan, Hankemeier, Thomas, Boomsma, Dorret I

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

16

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Baas, Annette F, Gabbett, Michael, Rimac, Milan, Kansikas, Minttu, Raphael, Martine, Nievelstein, Rutger AJ, Nicholls, Wayne, Offerhaus, Johan, Bodmer, Danielle, Wernstedt, Annekatrin, Krabichler, Bir

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.08 MB

english, 2013

17

The EuroGentest Clinical Utility Gene Cards continued

Dierking, Anna, Schmidtke, Jörg, Matthijs, Gert, Cassiman, Jean-Jacques

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 64 KB

english, 2013

18

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012

Mayer, Karin, Kennerknecht, Ingo, Steinmann, Beat

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 188 KB

english, 2013

19

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

Rahner, Nils, Steinke, Verena, Schlegelberger, Brigitte, Eisinger, Francois, Hutter, Pierre, Olschwang, Sylviane

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 153 KB

english, 2013

20

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 469 KB

english, 2013

21

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Smith, Bradley N, Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M, Jones, Ashley, Gray, Ian, Wright,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 613 KB

english, 2013

22

Variable imprinting of the MEST gene in human preimplantation embryos

Huntriss, John D, Hemmings, Karen E, Hinkins, Matthew, Rutherford, Anthony J, Sturmey, Roger G, Elder, Kay, Picton, Helen M

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.57 MB

english, 2013

23

Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

Aretz, Stefan, Genuardi, Maurizio, Hes, Frederik J

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 185 KB

english, 2013

24

Publics and biobanks: Pan-European diversity and the challenge of responsible innovation

Gaskell, George, Gottweis, Herbert, Starkbaum, Johannes, Gerber, Monica M, Broerse, Jacqueline, Gottweis, Ursula, Hobbs, Abbi, Helén, Ilpo, Pashou, Maria, Snell, Karoliina, Soulier, Alexandra

Journal:

European Journal of Human Genetics

Year:

2013

File:

PDF, 60 KB

2013

25

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

Biancheri, Roberta, Rosano, Camillo, Denegri, Laura, Lamantea, Eleonora, Pinto, Francesca, Lanza, Federica, Severino, Mariasavina, Filocamo, Mirella

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

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