Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 4

Results: 9

Confounding effects of microbiome on the susceptibility of TNFSF15 to Crohn's disease in the Ryukyu Islands.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 387, doi. 10.1007/s00439-017-1764-0
By:
- Nakagome, Shigeki;
- Said, Heba;
- Morita, Hidetoshi;
- Hattori, Masahira;
- Mano, Shuhei;
- Chinen, Hiroshi;
- Iraha, Atsushi;
- Hokama, Akira;
- Kinjo, Fukunori;
- Takeyama, Yasuaki;
- Sakisaka, Shotaro;
- Matsui, Toshiyuki;
- Kidd, Judith;
- Kidd, Kenneth;
- Suda, Wataru;
- Hanihara, Tsunehiko;
- Oota, Hiroki;
- Kimura, Ryosuke;
- Ishida, Hajime;
- Fujita, Jiro
Publication type:
Article
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 399, doi. 10.1007/s00439-017-1765-z
By:
- Vilboux, Thierry;
- Gahl, William;
- Malicdan, May;
- Gunay-Aygun, Meral;
- Stephen, Joshi;
- Kuptanon, Chulaluck;
- Sinclair, Courtney;
- Yildirimli, Deniz;
- Maynard, Dawn;
- Bryant, Joy;
- Fischer, Roxanne;
- Huizing, Marjan;
- Mian, Luhe;
- Vemulapalli, Meghana;
- Mullikin, James
Publication type:
Article
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 349, doi. 10.1007/s00439-017-1766-y
By:
- Kehrer-Sawatzki, Hildegard;
- Mautner, Victor-Felix;
- Cooper, David
Publication type:
Article
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 409, doi. 10.1007/s00439-017-1767-x
By:
- Vilboux, Thierry;
- Gahl, William;
- Berger, Seth;
- Ciccone, Carla;
- Simon, Karen;
- Malicdan, May;
- Billington, Charles;
- Fischer, Roxanne;
- Huizing, Marjan;
- Introne, Wendy;
- Smith, Ann;
- Gropman, Andrea;
- Blancato, Jan;
- Mullikin, James
Publication type:
Article
Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 421, doi. 10.1007/s00439-017-1768-9
By:
- Haralambieva, Iana;
- Ovsyannikova, Inna;
- Kennedy, Richard;
- Poland, Gregory;
- Larrabee, Beth;
- Zimmermann, Michael;
- Grill, Diane;
- Schaid, Daniel
Publication type:
Article
Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 437, doi. 10.1007/s00439-017-1770-2
By:
- Balanovsky, O.;
- Chukhryaeva, M.;
- Zaporozhchenko, V.;
- Agdzhoyan, A.;
- Dibirova, K.;
- Skhalyakho, R.;
- Balanovska, E.;
- Urasin, V.;
- Zhabagin, M.;
- Hovhannisyan, A.;
- Yepiskoposyan, L.;
- Kuznetsova, M.;
- Koshel, S.;
- Pocheshkhova, E.;
- Alborova, I.;
- Mustafin, Kh.;
- Utevska, O.;
- Tyler-Smith, C.
Publication type:
Article
Integrative multi-omics analysis revealed SNP-lncRNA-mRNA (SLM) networks in human peripheral blood mononuclear cells.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 451, doi. 10.1007/s00439-017-1771-1
By:
- Xia, Wei;
- Zhu, Xiao-Wei;
- Mo, Xin-Bo;
- Wu, Long-Fei;
- Lin, Xiang;
- Qiu, Ying-Hua;
- Wang, Lan;
- He, Pei;
- Xie, Fang-Fei;
- Bing, Peng-Fei;
- Lu, Xin;
- Deng, Fei-Yan;
- Lei, Shu-Feng;
- Wu, Jian;
- Guo, Yu-Fan;
- Zeng, Ke-Qin;
- Wang, Ming-Jun;
- Liu, Yao-Zhong;
- Yi, Neng-Jun
Publication type:
Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
By:
- Depienne, Christel;
- Nava, Caroline;
- Keren, Boris;
- Heide, Solveig;
- Passemard, Sandrine;
- Moutard, Marie-Laure;
- Amor, David;
- Billette de Villemeur, Thierry;
- Doummar, Diane;
- Alby, Caroline;
- Cormier-Daire, Valérie;
- Saint-Martin, Anne;
- Hirsch, Edouard;
- Faivre, Laurence;
- Burglen, Lydie;
- Odent, Sylvie;
- Delrue, Marie-Ange;
- Caignec, Cédric;
- Isidor, Bertrand;
- Renaldo, Florence
Publication type:
Article
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
By:
- Zhang, Jing;
- Gambin, Tomasz;
- Yuan, Bo;
- Roeder, Elizabeth;
- Bonneau, Dominique;
- Denommé-Pichon, Anne-Sophie;
- Zhu, Wenmiao;
- He, Weimin;
- Vetrini, Francesco;
- Ward, Patricia;
- Cheung, Sau;
- Bi, Weimin;
- Eng, Christine;
- Lupski, James;
- Yang, Yaping;
- Patel, Ankita;
- Lalani, Seema;
- Xia, Fan;
- Stankiewicz, Paweł;
- Szafranski, Przemyslaw
Publication type:
Article