Volume 19; Issue 8

European Journal of Human Genetics

Volume 19; Issue 8

1

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1–14)

Pinto, Yigal M, Wilde, Arthur AAM, van Rijsingen, Ingrid AW, Christiaans, Imke, Deprez, Ronald H Lekanne, Elliott, Perry M

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 192 KB

english, 2011

2

Clinical utility gene card for: Mowat–Wilson syndrome

Zollino, Marcella, Garavelli, Livia, Rauch, Anita

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

3

Clinical utility gene card for: Gitelman syndrome

Knoers, Nine VAM, Devuyst, Olivier, Kamsteeg, Erik-Jan

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

4

Strengthening the reporting of genetic risk prediction studies: the GRIPS statement

Janssens, A Cecile JW, Ioannidis, John PA, van Duijn, Cornelia M, Little, Julian, Khoury, Muin J

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 208 KB

english, 2011

5

New disease gene location and high genetic heterogeneity in idiopathic scoliosis

Edery, Patrick, Margaritte-Jeannin, Patricia, Biot, Bernard, Labalme, Audrey, Bernard, Jean-Claude, Chastang, Joëlle, Kassai, Behrouz, Plais, Marie-Helene, Moldovan, Florina, Clerget-Darpoux, Francois

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

6

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Jongmans, Marjolijn C J, van der Burgt, Ineke, Hoogerbrugge, Peter M, Noordam, Kees, Yntema, Helger G, Nillesen, Willy M, Kuiper, Roland P, Ligtenberg, Marjolijn JL, van Kessel, Ad Geurts, van Krieken

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

7

The genetic component of human longevity: analysis of the survival advantage of parents and siblings of Italian nonagenarians

Montesanto, Alberto, Latorre, Valeria, Giordano, Marco, Martino, Cinzia, Domma, Filippo, Passarino, Giuseppe

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 271 KB

english, 2011

8

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 173 KB

english, 2011

9

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

Laine, C M, Chung, B D, Susic, M, Prescott, T, Semler, O, Fiskerstrand, T, D'Eufemia, P, Castori, M, Pekkinen, M, Sochett, E

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 477 KB

english, 2011

10

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 309 KB

english, 2011

11

Variable set enrichment analysis in genome-wide association studies

Yang, Wei, de las Fuentes, Lisa, Dávila-Román, Victor G, Charles Gu, C

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 581 KB

english, 2011

12

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia

Kamamoto, Munefumi, Machida, Junichiro, Yamaguchi, Seishi, Kimura, Masashi, Ono, Takao, Jezewski, Peter A, Higashi, Yujiro, Nakayama, Atsuo, Shimozato, Kazuo, Tokita, Yoshihito

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 456 KB

english, 2011

13

Meta-analysis of genome-wide association for migraine in six population-based European cohorts

Ligthart, Lannie, de Vries, Boukje, Smith, Albert V, Ikram, M Arfan, Amin, Najaf, Hottenga, Jouke-Jan, Koelewijn, Stephany C, Kattenberg, V Mathijs, de Moor, Marleen HM, Janssens, A Cecile JW

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 369 KB

english, 2011

14

Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis

Korotkova, Marina, Daha, Nina A, Seddighzadeh, Maria, Ding, Bo, Catrina, Anca I, Lindblad, Staffan, Huizinga, Tom W J, Toes, Rene E M, Alfredsson, Lars, Klareskog, Lars

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 543 KB

english, 2011

15

A novel approach for small sample size family-based association studies: sequential tests

Ilk, Ozlem, Rajabli, Farid, Dungul, Dilay Ciglidag, Ozdag, Hilal, Ilk, Hakki Gokhan

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 335 KB

english, 2011

16

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Chograni, Manèl, Rejeb, Imen, Jemaa, Lamia Ben, Châabouni, Myriam, Bouhamed, Habiba Chaabouni

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 652 KB

english, 2011

17

Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies

Schully, Sheri D, Yu, Wei, McCallum, Victoria, Benedicto, Camilla B, Dong, Linda M, Wulf, Anja, Clyne, Melinda, Khoury, Muin J

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 267 KB

english, 2011

18

Everything a health professional needs to know about genetics

Toriello, Helga

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 69 KB

english, 2011

19

Gene set analysis of SNP data: benefits, challenges, and future directions

Fridley, Brooke L, Patch, Christine

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 398 KB

english, 2011

20

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Boyle, Jennifer, Hawkins, Malcolm, Barton, David E, Meaney, Karen, Guitart, Miriam, O'Grady, Anna, Tobi, Simon, Ramsden, Simon C, Elles, Rob, Gray, Elaine

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 537 KB

english, 2011

21

Clinical utility gene card for: Gorlin syndrome

Pastorino, Lorenza, Levanat, Sonja, Musani, Vesna, Muzio, Lorenzo Lo, Situm, Mima, Scarra, Giovanna Bianchi

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

22

Association of TH01 with human longevity revisited

von Wurmb-Schwark, Nicole, Caliebe, Amke, Schwark, Thorsten, Kleindorp, Rabea, Poetsch, Micaela, Schreiber, Stefan, Nebel, Almut

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 498 KB

english, 2011

23

Clinical utility gene card for: Usher syndrome

Bolz, Hanno J, Roux, Anne-Françoise

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 185 KB

english, 2011

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