Volume 20; Issue 9

European Journal of Human Genetics

Volume 20; Issue 9

1

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Reunert, Janine, Wentzell, Rüdiger, Walter, Michael, Jakubiczka, Sibylle, Zenker, Martin, Brune, Thomas, Rust, Stephan, Marquardt, Thorsten

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 314 KB

english, 2012

2

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

van Uum, Chris MJ, Stevens, Servi JC, Dreesen, Joseph CFM, Drüsedau, Marion, Smeets, Hubert J, Hollanders-Crombach, Bertien, Die-Smulders, Christine EM de, Geraedts, Joep PM, Engelen, John JM, Coonen,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 379 KB

english, 2012

3

Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers

Pardo, Luba M, Piras, Giovanna, Asproni, Rosanna, van der Gaag, Kristiaan J, Gabbas, Attilio, Ruiz-Linares, Andres, de Knijff, Peter, Monne, Maria, Rizzu, Patrizia, Heutink, Peter

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 599 KB

english, 2012

4

Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines

Åberg, Karolina, Khachane, Amit N, Rudolf, Gábor, Nerella, Srilaxmi, Fugman, Douglas A, Tischfield, Jay A, van den Oord, Edwin JCG

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

5

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

Leidenroth, Andreas, Sorte, Hanne Sørmo, Gilfillan, Gregor, Ehrlich, Melanie, Lyle, Robert, Hewitt, Jane E

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 341 KB

english, 2012

6

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

7

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

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

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 124 KB

english, 2012

8

Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes

de Jong, Simone, van Eijk, Kristel R, Zeegers, Dave W L H, Strengman, Eric, Janson, Esther, Veldink, Jan H, van den Berg, Leonard H, Cahn, Wiepke, Kahn, René S, Boks, Marco P M, Ophoff, Roel A

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 319 KB

english, 2012

9

The phenotype associated with a large deletion on MECP2

Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 483 KB

english, 2012

10

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Knijnenburg, Jeroen, van Bever, Yolande, Hulsman, Lorette O M, van Kempen, Chantal A P, Bolman, Galhana M, van Loon, Rosa Laura E, Beverloo, H Berna, van Zutven, Laura J C M

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 419 KB

english, 2012

11

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

Kagami, Masayo, Kato, Fumiko, Matsubara, Keiko, Sato, Tomoko, Nishimura, Gen, Ogata, Tsutomu

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 293 KB

english, 2012

12

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families

Kruse, Lisbeth Venø, Nyegaard, Mette, Christensen, Ulla, Møller-Larsen, Steffen, Haagerup, Annette, Deleuran, Mette, Hansen, Lars Gudmund, Venø, Stine Krogh, Goossens, Dirk, Del-Favero, Jurgen, Børglu

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 503 KB

english, 2012

13

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

Hastings, Ros, de Wert, Guido, Fowler, Brian, Krawczak, Michael, Vermeulen, Eric, Bakker, Egbert, Borry, Pascal, Dondorp, Wybo, Nijsingh, Niels, Barton, David, Schmidtke, Jörg, van El, Carla G, Vermee

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 248 KB

english, 2012

14

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 71 KB

english, 2012

15

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Ro

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

16

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Raducu, Madalina, Baets, Jonathan, Fano, Oihane, Van Coster, Rudy, Cruces, Jesús

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 611 KB

english, 2012

17

All you ever wanted to know about teratogens and more

Becker, Kristin

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

18

Preimplantation genetic diagnosis (PGD) for Huntington’s disease: the experience of three European centres

Van Rij, Maartje C, De Rademaeker, Marjan, Moutou, Céline, Dreesen, Jos C F M, De Rycke, Martine, Liebaers, Inge, Geraedts, Joep P M, De Die-Smulders, Christine E M, Viville, Stéphane

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 74 KB

english, 2012

19

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

Guerrini, Renzo, Mei, Davide, Cordelli, Duccio Maria, Pucatti, Daniela, Franzoni, Emilio, Parrini, Elena

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 288 KB

english, 2012

20

Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study

Eisinger, François, Fabre, Roxane, Lasset, Christine, Stoppa-Lyonnet, Dominique, Julian-Reynier, Claire, Nogues, Catherine

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

21

A family-based association test to detect gene–gene interactions in the presence of linkage

De Lobel, Lizzy, Thijs, Lutgarde, Kouznetsova, Tatiana, Staessen, Jan A, Van Steen, Kristel

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 468 KB

english, 2012

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