Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 5

Results: 11

Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 453, doi. 10.1007/s00439-016-1647-9
By:
- Tragante, Vinicius;
- Asselbergs, Folkert;
- Swerdlow, Daniel;
- Palmer, Tom;
- Moore, Jason;
- Bakker, Paul;
- Keating, Brendan;
- Holmes, Michael
Publication type:
Article
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 477, doi. 10.1007/s00439-016-1649-7
By:
- Mouton, J.;
- Merwe, L.;
- Goosen, A.;
- Revera, M.;
- Brink, P.;
- Moolman-Smook, J.;
- Kinnear, C.
Publication type:
Article
Refining the Y chromosome phylogeny with southern African sequences.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 541, doi. 10.1007/s00439-016-1651-0
By:
- Barbieri, Chiara;
- Hübner, Alexander;
- Macholdt, Enrico;
- Ni, Shengyu;
- Lippold, Sebastian;
- Schröder, Roland;
- Mpoloka, Sununguko;
- Purps, Josephine;
- Roewer, Lutz;
- Stoneking, Mark;
- Pakendorf, Brigitte
Publication type:
Article
Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 555, doi. 10.1007/s00439-016-1652-z
By:
- Enciso, María;
- Sarasa, Jonás;
- Xanthopoulou, Leoni;
- Bristow, Sara;
- Bowles, Megan;
- Fragouli, Elpida;
- Delhanty, Joy;
- Wells, Dagan
Publication type:
Article
Erratum to: Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia.
Published in:
2016
By:
- Brandão, Andreia;
- Eng, Ken;
- Rito, Teresa;
- Cavadas, Bruno;
- Bulbeck, David;
- Gandini, Francesca;
- Pala, Maria;
- Mormina, Maru;
- Hudson, Bob;
- White, Joyce;
- Ko, Tsang-Ming;
- Saidin, Mokhtar;
- Zafarina, Zainuddin;
- Oppenheimer, Stephen;
- Richards, Martin;
- Pereira, Luísa;
- Soares, Pedro
Publication type:
Erratum
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 485, doi. 10.1007/s00439-016-1654-x
By:
- Cavalli, Marco;
- Pan, Gang;
- Nord, Helena;
- Wallerman, Ola;
- Wallén Arzt, Emelie;
- Berggren, Olof;
- Elvers, Ingegerd;
- Eloranta, Maija-Leena;
- Rönnblom, Lars;
- Lindblad Toh, Kerstin;
- Wadelius, Claes
Publication type:
Article
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9
By:
- Szafranski, Przemyslaw;
- Gambin, Tomasz;
- Dharmadhikari, Avinash;
- Akdemir, Kadir;
- Jhangiani, Shalini;
- Schuette, Jennifer;
- Godiwala, Nihal;
- Yatsenko, Svetlana;
- Sebastian, Jessica;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Abellar, Rosanna;
- Bateman, David;
- Wilson, Ashley;
- Markham, Melinda;
- Slamon, Jill;
- Santos-Simarro, Fernando;
- Palomares, María;
- Nevado, Julián;
- Lapunzina, Pablo
Publication type:
Article
Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 499, doi. 10.1007/s00439-016-1656-8
By:
- Damiati, E.;
- Borsani, G.;
- Giacopuzzi, Edoardo
Publication type:
Article
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 513, doi. 10.1007/s00439-016-1657-7
By:
- Ben Said, Mariem;
- Grati, M'hamed;
- Ishimoto, Takahiro;
- Zou, Bing;
- Chakchouk, Imen;
- Ma, Qi;
- Yao, Qi;
- Hammami, Bouthaina;
- Yan, Denise;
- Mittal, Rahul;
- Nakamichi, Noritaka;
- Ghorbel, Abdelmonem;
- Neng, Lingling;
- Tekin, Mustafa;
- Shi, Xiao;
- Kato, Yukio;
- Masmoudi, Saber;
- Lu, Zhongmin;
- Hmani, Mounira;
- Liu, Xuezhong
Publication type:
Article
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 525, doi. 10.1007/s00439-016-1660-z
By:
- Alazami, Anas;
- Al-Qattan, Sarah;
- Faqeih, Eissa;
- Alhashem, Amal;
- Alshammari, Muneera;
- Alzahrani, Fatema;
- Al-Dosari, Mohammed;
- Patel, Nisha;
- Alsagheir, Afaf;
- Binabbas, Bassam;
- Alzaidan, Hamad;
- Alsiddiky, Abdulmonem;
- Alharbi, Nasser;
- Alfadhel, Majid;
- Kentab, Amal;
- Daza, Riza;
- Kircher, Martin;
- Shendure, Jay;
- Hashem, Mais;
- Alshahrani, Saif
Publication type:
Article
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 469, doi. 10.1007/s00439-016-1646-x
By:
- Hutter, Sonja;
- Piro, Rosario;
- Waszak, Sebastian;
- Kehrer-Sawatzki, Hildegard;
- Friedrich, Reinhard;
- Lassaletta, Alvaro;
- Witt, Olaf;
- Korbel, Jan;
- Lichter, Peter;
- Schuhmann, Martin;
- Pfister, Stefan;
- Tabori, Uri;
- Mautner, Victor;
- Jones, David
Publication type:
Article