Пожертвування 15 вересня 2024 – 1 жовтня 2024 Про збір коштів

Volume 134; Issue 6

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Human Genetics
Volume 134; Issue 6

Human Genetics

Volume 134; Issue 6

1

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions

Wang, Ye, Su, Peiqiang, Hu, Bin, Zhu, Wenjuan, Li, Qibin, Yuan, Ping, Li, Jiangchao, Guan, Xinyuan, Li, Fucheng, Jing, Xiangyi, Li, Ru, Zhang, Yongling, Férec, Claude, Cooper, David N., Wang, Jun, Hua

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 3.05 MB

english, 2015

2

HomozygousMED25mutation implicated in eye–intellectual disability syndrome

Basel-Vanagaite, Lina, Smirin-Yosef, Pola, Essakow, Jenna Lee, Tzur, Shay, Lagovsky, Irina, Maya, Idit, Pasmanik-Chor, Metsada, Yeheskel, Adva, Konen, Osnat, Orenstein, Naama, Weisz Hubshman, Monika,

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 1.91 MB

english, 2015

3

Analysis of human upstream open reading frames and impact on gene expression

Ye, Yuhua, Liang, Yidan, Yu, Qiuxia, Hu, Lingling, Li, Haoli, Zhang, Zhenhai, Xu, Xiangmin

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 401 KB

english, 2015

4

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

Tesson, Christelle, Koht, Jeanette, Stevanin, Giovanni

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 1019 KB

english, 2015

5

West Eurasian mtDNA lineages in India: an insight into the spread of the Dravidian language and the origins of the caste system

Palanichamy, Malliya Gounder, Mitra, Bikash, Zhang, Cai-Ling, Debnath, Monojit, Li, Gui-Mei, Wang, Hua-Wei, Agrawal, Suraksha, Chaudhuri, Tapas Kumar, Zhang, Ya-Ping

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 316 KB

english, 2015

6

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of theCREBBPdeletion repertoire

Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 904 KB

english, 2015

7

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

St Pourcain, Beate, Haworth, C. M. A., Davis, O. S. P., Wang, Kai, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ronald, Angelica, Price, Tom, Meaburn, Emma, Ring, Susan M., Golding, Jean, Hak

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 575 KB

english, 2015

8

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Bramswig, Nuria C., Lüdecke, Hermann-Josef, Alanay, Yasemin, Albrecht, Beate, Barthelmie, Alexander, Boduroglu, Koray, Braunholz, Diana, Caliebe, Almuth, Chrzanowska, Krystyna H., Czeschik, Johanna Ch

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 865 KB

english, 2015

9

Ian MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy: Genetic counseling research: a practical guide

McAllister, Marion

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 128 KB

english, 2015

10

Erratum to: Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia

Liu, Xuanyao, Yunus, Yushimah, Lu, Dongsheng, Aghakhanian, Farhang, Saw, Woei‑Yuh, Deng, Lian, Ali, Mohammad, Wang, Xu, Mohd Nor, Fadzilah, Abdul Rahman, Thuhairah, Shaari, Shahrul Azlin, Salleh, Mohd

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 136 KB

english, 2015

11

A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure

Turpeinen, Hannu, Seppälä, Ilkka, Lyytikäinen, Leo-Pekka, Raitoharju, Emma, Hutri-Kähönen, Nina, Levula, Mari, Oksala, Niku, Waldenberger, Melanie, Klopp, Norman, Illig, Thomas, Mononen, Nina, Laakson

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 254 KB

english, 2015

12

Exome sequencing reveals homozygousTRIM2mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Pehlivan, Davut, Coban Akdemir, Zeynep, Karaca, Ender, Bayram, Yavuz, Jhangiani, Shalini, Yildiz, Edibe Pembegul, Muzny, Donna, Uluc, Kayihan, Gibbs, Richard A., Elcioglu, Nursel, Lupski, James R., Ha

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 480 KB

english, 2015

13

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

Hino-Fukuyo, Naomi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Niihori, Tetsuya, Sato, Ryo, Suzuki, Tasuku, Kudo, Hiroki, Sato, Yuko, Nakayama, Tojo, Kakisaka, Yosuke, Kubota, Yuki, Kobayashi, Tomoko, Fun

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 507 KB

english, 2015

14

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data

Schrodi, Steven J., DeBarber, Andrea, He, Max, Ye, Zhan, Peissig, Peggy, Van Wormer, Jeffrey J., Haws, Robert, Brilliant, Murray H., Steiner, Robert D.

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 723 KB

english, 2015

15

Replicated linear association between DUF1220 copy number and severity of social impairment in autism

Davis, J. M., Searles Quick, V. B., Sikela, J. M.

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 425 KB

english, 2015