Volume 18; Issue 4

European Journal of Human Genetics

Volume 18; Issue 4

1

Septo-optic dysplasia

Webb, Emma A, Dattani, Mehul T

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 230 KB

english, 2009

2

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

Hannan, Fadil M, Nesbit, M Andrew, Turner, Jeremy J O, Stacey, Joanna M, Cianferotti, Luisella, Christie, Paul T, Conigrave, Arthur D, Whyte, Michael P, Thakker, Rajesh V

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 427 KB

english, 2009

3

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

Pichler, Irene, Fuchsberger, Christian, Platzer, Christa, Çalişkan, Minal, Marroni, Fabio, Pramstaller, Peter P, Ober, Carole

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 440 KB

english, 2009

4

Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana

May, Linda, van Bodegom, David, Frölich, Marijke, van Lieshout, Lisette, Slagboom, P Eline, Westendorp, Rudi GJ, Kuningas, Maris

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 372 KB

english, 2009

5

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

Masny, Peter S, Chan, On Ying A, de Greef, Jessica C, Bengtsson, Ulla, Ehrlich, Melanie, Tawil, Rabi, Lock, Leslie F, Hewitt, Jane E, Stocksdale, Jennifer, Martin, Jorge H

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 701 KB

english, 2009

6

Genomic landscape of positive natural selection in Northern European populations

Lappalainen, Tuuli, Salmela, Elina, Andersen, Peter M, Dahlman-Wright, Karin, Sistonen, Pertti, Savontaus, Marja-Liisa, Schreiber, Stefan, Lahermo, Päivi, Kere, Juha

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 593 KB

english, 2009

7

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

Sobrin, Lucia, Maller, Julian B, Neale, Benjamin M, Reynolds, Robyn C, Fagerness, Jesen A, Daly, Mark J, Seddon, Johanna M

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 396 KB

english, 2009

8

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

van Ruissen, Fred, de Wissel, Marit, Bordewijk, Lou, Samijn, Johnny PA, van der Pol, W Ludo, Meggouh, Farid, Baas, Frank, Weterman, Marian AJ

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 460 KB

english, 2009

9

Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment

Fernández-Fernández, Francisco José

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

10

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Shahin, Hashem, Walsh, Tom, Rayyan, Amal Abu, Lee, Ming K, Higgins, Jake, Dickel, Diane, Lewis, Kristen, Thompson, James, Baker, Carl, Nord, Alex S

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 544 KB

english, 2009

11

Ethical implications of the use of whole genome methods in medical research

Kaye, Jane, Boddington, Paula, de Vries, Jantina, Hawkins, Naomi, Melham, Karen

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 278 KB

english, 2009

12

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorrain

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 428 KB

english, 2009

13

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

Wouters, Vinciane, Limaye, Nisha, Uebelhoer, Melanie, Irrthum, Alexandre, Boon, Laurence M, Mulliken, John B, Enjolras, Odile, Baselga, Eulalia, Berg, Jonathan, Dompmartin, Anne

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 623 KB

english, 2009

14

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Mero, Inger-Lise, Lorentzen, Åslaug R, Ban, Maria, Smestad, Cathrine, Celius, Elisabeth G, Aarseth, Jan H, Myhr, Kjell-Morten, Link, Jenny, Hillert, Jan, Olsson, Tomas

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 156 KB

english, 2009

15

High-throughput sequencing of microdissected chromosomal regions

Weise, Anja, Timmermann, Bernd, Grabherr, Manfred, Werber, Martin, Heyn, Patricia, Kosyakova, Nadezda, Liehr, Thomas, Neitzel, Heidemarie, Konrat, Kateryna, Bommer, Christiane

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 614 KB

english, 2009

16

Reply to Fernández-Fernández

Shovlin, Claire L, Govani, Fatima S

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

17

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy

Burlet, Philippe, Gigarel, Nadine, Magen, Maryse, Drunat, Séverine, Benachi, Alexandra, Hesters, Laetitia, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 253 KB

english, 2009

18

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 448 KB

english, 2009

19

Hereditary haemorrhagic telangiectasia and genetic thrombophilia

Cutuli, N, Bianca, M, Barrano, B, Cataliotti, A, Barone, C, Bianca, S, Indaco, L, Milana, G

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

20

Reply to Bianca et al

Shovlin, Claire L, Govani, Fatima S

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 109 KB

english, 2009

21

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

Pichler, Irene, Fuchsberger, Christian, Platzer, Christa, Çalişkan, Minal, Marroni, Fabio, Pramstaller, Peter P, Ober, Carole

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

22

Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseases

Moonesinghe, Ramal, Liu, Tiebin, Khoury, Muin J

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

23

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

Titze, Sabrina, Peters, Hartmut, Währisch, Sandra, Harder, Thomas, Guse, Katrin, Buske, Annegret, Tinschert, Sigrid, Harder, Anja

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

24

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a

Underhill, Peter A, Myres, Natalie M, Rootsi, Siiri, Metspalu, Mait, Zhivotovsky, Lev A, King, Roy J, Lin, Alice A, Chow, Cheryl-Emiliane T, Semino, Ornella, Battaglia, Vincenza, Kutuev, Ildus, Järve,

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 619 KB

english, 2010