Volume 17; Issue 5

European Journal of Human Genetics

Volume 17; Issue 5

1

GAB2 is not associated with late-onset Alzheimer's disease in Japanese

Miyashita, Akinori, Arai, Hiroyuki, Asada, Takashi, Imagawa, Masaki, Shoji, Mikio, Higuchi, Susumu, Urakami, Katsuya, Toyabe, Shinichi, Akazawa, Kohei, Kanazawa, Ichiro

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 95 KB

english, 2008

2

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

Fanin, Marina, Nascimbeni, Anna Chiara, Tasca, Elisabetta, Angelini, Corrado

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

3

The expression of type III hyperlipoproteinemia: involvement of lipolysis genes

Henneman, Peter, van der Sman-de Beer, Femke, Moghaddam, Payman Hanifi, Huijts, Petra, Stalenhoef, Anton FH, Kastelein, John JP, van Duijn, Cornelia M, Havekes, Louis M, Frants, Rune R, van Dijk, Ko W

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 183 KB

english, 2008

4

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

Tuysuz, Beyhan, Mosig, Rebecca, Altun, Gürkan, Sancak, Selim, Glucksman, Marc J, Martignetti, John A

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 292 KB

english, 2008

5

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Eng, Christine, Ou, Zhishuo, Chinault, Craig, Workman, Laura, Coldwell, James, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 298 KB

english, 2008

6

Unraveling hyperlipidemia type III (dysbetalipoproteinemia), slowly

Schaefer, Juergen R

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

7

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Köhn, Linda, Bowne, Sara J, S Sullivan, Lori, Daiger, Stephen P, Burstedt, Marie SI, Kadzhaev, Konstantin, Sandgren, Ola, Golovleva, Irina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 477 KB

english, 2008

8

The Etruscan timeline: a recent Anatolian connection

Brisighelli, Francesca, Capelli, Cristian, Álvarez-Iglesias, Vanesa, Onofri, Valerio, Paoli, Giorgio, Tofanelli, Sergio, Carracedo, Ángel, Pascali, Vincenzo L, Salas, Antonio

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

9

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Shatunov, Alexey, Olivé, Montse, Odgerel, Zagaa, Stadelmann-Nessler, Christine, Irlbacher, Kerstin, van Landeghem, Frank, Bayarsaikhan, Munkhuu, Lee, Hee-Suk, Goudeau, Bertrand, Chinnery, Patrick F

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 464 KB

english, 2008

10

Dystrophia myotonia: why focus on foci?

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

11

A 15q13.3 microdeletion segregating with autism

Pagnamenta, Alistair T, Wing, Kirsty, Akha, Elham Sadighi, Knight, Samantha JL, Bölte, Sven, Schmötzer, Gabriele, Duketis, Eftichia, Poustka, Fritz, Klauck, Sabine M, Poustka, Annemarie

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 242 KB

english, 2008

12

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, MacLaren, Linda, Cater, Tracey, Fernandez, Bridget

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 582 KB

english, 2008

13

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 274 KB

english, 2008

14

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 332 KB

english, 2008

15

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

Bliznetz, Elena A, Tverskaya, Svetlana M, Zinchenko, Rena A, Abrukova, Anna V, Savaskina, Ekaterina N, Nikulin, Maxim V, Kirillov, Alexander G, Ginter, Evgeny K, Polyakov, Alexander V

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 212 KB

english, 2009

16

Significant evidence for linkage to chromosome 5q13 in a genome-wide scan for asthma in an extended pedigree resource

Teerlink, Craig C, Camp, Nicola J, Bansal, Aruna, Crapo, Robert, Hughes, Dana, Kort, Edward, Rowe, Kerry, Cannon-Albright, Lisa A

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

17

Impact of inbreeding on fertility in a pre-industrial population

Robert, Alexandre, Toupance, Bruno, Tremblay, Marc, Heyer, Evelyne

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

18

MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer

Reeves, Stuart G, Meldrum, Cliff, Groombridge, Claire, Spigelman, Allan D, Suchy, Janina, Kurzawski, Grzegorz, Lubinski, Jan, McElduff, Patrick, Scott, Rodney J

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 173 KB

english, 2009

19

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

Li, Hui, Wang, Cheng-Ye, Wang, Jia-Xin, Wu, Gui-Sheng, Yu, Ping, Yan, Xiao-Yi, Chen, Yong-Gang, Zhao, Lu-Hang, Zhang, Ya-Ping

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 234 KB

english, 2008

20

A targeted population carrier screening program for severe and frequent genetic diseases in Israel

Zlotogora, Joël, Carmi, Rivka, Lev, Boaz, Shalev, Stavit A

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

21

A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease

Biernacka, Joanna M, Cordell, Heather J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

22

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009