Пожертвування 15 вересня 2024 – 1 жовтня 2024 Про збір коштів

Volume 13; Issue 2

European Journal of Human Genetics

Volume 13; Issue 2

1

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays

Des Georges, Marie, Claustres, Mireille, Bienvenu, Thierry, Viel, Marion, Leroy, Chrystel

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 118 KB

english, 2004

2

Association of haplotypes in the β-chemokine locus with multiple sclerosis

Vyshkina, Tamara, Shugart, Yin Yao, Birnbaum, Gary, Leist, Thomas P, Kalman, Bernadette

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 115 KB

english, 2004

3

No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma

Blankenburg, Sandra, König, Inke R, Moessner, Rotraut, Laspe, Petra, Thoms, Kai-Martin, Krueger, Ullrich, Khan, Sikandar G, Westphal, Goetz, Volkenandt, Matthias, Neumann, Christine

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 66 KB

english, 2004

4

Evaluation of NSD2 and NSD3 in overgrowth syndromes

Douglas, Jenny, Coleman, Kim, Tatton-Brown, Katrina, Hughes, Helen E, Temple, I Karen, Cole, Trevor R P, Rahman, Nazneen

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 105 KB

english, 2004

5

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

Alakurtti, Kirsi, Weber, Ekkehard, Rinne, Riitta, Theil, Gerit, Haan, Gerrit-Jan de, Lindhout, Dick, Salmikangas, Paula, Saukko, Pekka, Lahtinen, Ulla, Lehesjoki, Anna-Elina

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 333 KB

english, 2004

6

Pedigree linkage disequilibrium mapping of quantitative trait loci

Fan, Ruzong, Spinka, Christie, Jin, Lei, Sun Jung, Jee

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 252 KB

english, 2004

7

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Gajecka, Marzena, Yu, Wei, Ballif, Blake C, Glotzbach, Caron D, Bailey, Kristen A, Shaw, Chad A, Kashork, Catherine D, Heilstedt, Heidi A, Ansel, David A, Theisen, Aaron

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 264 KB

english, 2004

8

Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome

Abidi, Fatima E, Cardoso, Carlos, Lossi, Anne-Marie, Lowry, Robert Brian, Depetris, Danielle, Mattéi, Marie-Geneviève, Lubs, Herbert A, Stevenson, Roger E, Fontes, Michel, Chudley, Albert E

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 193 KB

english, 2004

9

Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China)

Jia, Wei-Hua, Collins, Andrew, Zeng, Yi-Xin, Feng, Bing-Jian, Yu, Xing-Juan, Huang, Li-Xi, Feng, Qi-Sheng, Huang, Ping, Yao, Ming-Hong, Shugart, Yin Yao

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 83 KB

english, 2004

10

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene

Modiano, Guido, Bombieri, Cristina, Ciminelli, Bianca Maria, Belpinati, Francesca, Giorgi, Silvia, Georges, Marie des, Scotet, Virginie, Pompei, Fiorenza, Ciccacci, Cinzia, Guittard, Caroline

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 204 KB

english, 2004

11

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

Gerdes, Tommy, Kirchhoff, Maria, Lind, Anne-Marie, Larsen, Gitte Vestergaard, Schwartz, Marianne, Lundsteen, Claes

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 71 KB

english, 2004

12

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects

Niemi, Anna-Kaisa, Moilanen, Jukka S, Tanaka, Masashi, Hervonen, Antti, Hurme, Mikko, Lehtimäki, Terho, Arai, Yasumichi, Hirose, Nobuyoshi, Majamaa, Kari

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 94 KB

english, 2004

13

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Schoumans, Jacqueline, Nordgren, Ann, Ruivenkamp, Claudia, Brøndum-Nielsen, Karen, Teh, Bin Tean, Annéren, Göran, Holmberg, Eva, Nordenskjöld, Magnus, Anderlid, Britt-Marie

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 73 KB

english, 2004

14

One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region

Hougs, Lotte, Havndrup, Ole, Bundgaard, Henning, Køber, Lars, Vuust, Jens, Larsen, Lars Allan, Christiansen, Michael, Andersen, Paal Skytt

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 101 KB

english, 2004

15

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

Crolla, John A, Youings, Sheila A, Ennis, Sarah, Jacobs, Patricia A

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 103 KB

english, 2004

16

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

Bonora, Elena, Lamb, Janine A, Barnby, Gabrielle, Sykes, Nuala, Moberly, Thomas, Beyer, Kim S, Klauck, Sabine M, Poustka, Firtz, Bacchelli, Elena, Blasi, Francesca

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 194 KB

english, 2004

17

PARK11 is not linked with Parkinson's disease in European families

Prestel, Jürgen, Sharma, Manu, Leitner, Petra, Zimprich, Alexander, Vaughan, Jenny R, Dürr, Alexandra, Bonifati, Vincenzo, De Michele, Giuseppe, Hanagasi, Hasmet A, Farrer, Matthew

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 84 KB

english, 2004

18

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Brahe, Christina, Vitali, Tiziana, Tiziano, Francesco D, Angelozzi, Carla, Pinto, Anna Maria, Borgo, Federica, Moscato, Umberto, Bertini, Enrico, Mercuri, Eugenio, Neri, Giovanni

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 121 KB

english, 2004

19

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes

Castanet, Mireille, Sura-Trueba, Sylvia, Chauty, Anne, Carré, Aurore, de Roux, Nicolas, Heath, Simon, Léger, Juliane, Lyonnet, Stanislas, Czernichow, Paul, Polak, Michel

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 141 KB

english, 2004

20

Population genetics: Female migration rate might not be greater than male rate

Shriver, Mark D

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 55 KB

english, 2004

21

Evolutionary Genetics: Evolutionary path to the heart

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 52 KB

english, 2004

22

Genomics: Polymorphic landscape of the human genome

Cheung, Vivian G

Журнал:

European Journal of Human Genetics

Рік:

2004

Мова:

english

Файл:

PDF, 59 KB

english, 2004

23

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21

Starling, Alessandra, Kok, Fernando, Passos-Bueno, Maria Rita, Vainzof, Mariz, Zatz, Mayana

Журнал:

European Journal of Human Genetics

Рік:

2005

Мова:

english

Файл:

PDF, 50 KB

english, 2005

24

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

Alakurtti, Kirsi, Weber, Ekkehard, Rinne, Riitta, Theil, Gerit, de Haan, Gerrit-Jan, Lindhout, Dick, Salmikangas, Paula, Saukko, Pekka, Lahtinen, Ulla, Lehesjoki, Anna-Elina

Журнал:

European Journal of Human Genetics

Рік:

2005

Мова:

english

Файл:

PDF, 50 KB

english, 2005