Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 7

Results: 11

Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 805, doi. 10.1007/s00439-017-1797-4

By:

Fragouli, Elpida;
Alfarawati, Samer;
Spath, Katharina;
Babariya, Dhruti;
Tarozzi, Nicoletta;
Borini, Andrea;
Wells, Dagan

Publication type:

Article

CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 875, doi. 10.1007/s00439-017-1801-z

By:

Huai, Cong;
Jia, Chenqiang;
Sun, Ruilin;
Xu, Peipei;
Min, Taishan;
Wang, Qihan;
Zheng, Chengde;
Chen, Hongyan;
Lu, Daru

Publication type:

Article

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 835, doi. 10.1007/s00439-017-1804-9

By:

Pillar, Nir;
Pleniceanu, Oren;
Fang, Mingyan;
Ziv, Limor;
Lahav, Einat;
Botchan, Shay;
Cheng, Le;
Dekel, Benjamin;
Shomron, Noam

Publication type:

Article

Global skin colour prediction from DNA.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 847, doi. 10.1007/s00439-017-1808-5

By:

Walsh, Susan;
Chaitanya, Lakshmi;
Breslin, Krystal;
Muralidharan, Charanya;
Bronikowska, Agnieszka;
Pospiech, Ewelina;
Koller, Julia;
Kovatsi, Leda;
Wollstein, Andreas;
Branicki, Wojciech;
Liu, Fan;
Kayser, Manfred

Publication type:

Article

Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 867, doi. 10.1007/s00439-017-1810-y

By:

Federico, Concetta;
Dugo, Ketty;
Bruno, Francesca;
Longo, Anna;
Grillo, Agata;
Saccone, Salvatore

Publication type:

Article

Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 897, doi. 10.1007/s00439-017-1811-x

By:

Lindström, Sara;
Germain, Marine;
Crous-Bou, Marta;
Smith, Erin;
Morange, Pierre-Emmanuel;
Hylckama Vlieg, Astrid;
Haan, Hugoline;
Chasman, Daniel;
Ridker, Paul;
Brody, Jennifer;
Andrade, Mariza;
Heit, John;
Tang, Weihong;
DeVivo, Immaculata;
Grodstein, Francine;
Smith, Nicholas;
Tregouet, David;
Kabrhel, Christopher

Publication type:

Article

An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT- ND1 gene.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 885, doi. 10.1007/s00439-017-1812-9

By:

Rodríguez-García, María;
Cotrina-Vinagre, Francisco;
Carnicero-Rodríguez, Patricia;
Martínez-Azorín, Francisco

Publication type:

Article

A recessive mutation in beta-IV-spectrin ( SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 903, doi. 10.1007/s00439-017-1814-7

By:

Knierim, Ellen;
Gill, Esther;
Seifert, Franziska;
Morales-Gonzalez, Susanne;
Unudurthi, Sathya;
Hund, Thomas;
Stenzel, Werner;
Schuelke, Markus

Publication type:

Article

Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 911, doi. 10.1007/s00439-017-1815-6

By:

Markunas, Christina;
Johnson, Eric;
Hancock, Dana

Publication type:

Article

Erratum to: Global skin colour prediction from DNA.

Published in:

2017

By:

Walsh, Susan;
Chaitanya, Lakshmi;
Breslin, Krystal;
Muralidharan, Charanya;
Bronikowska, Agnieszka;
Pospiech, Ewelina;
Koller, Julia;
Kovatsi, Leda;
Wollstein, Andreas;
Branicki, Wojciech;
Liu, Fan;
Kayser, Manfred

Publication type:

Erratum

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.

Published in:

Human Genetics, 2017, v. 136, n. 7, p. 821, doi. 10.1007/s00439-017-1795-6

By:

Bramswig, Nuria;
Lüdecke, Hermann-Josef;
Hamdan, Fadi;
Altmüller, Janine;
Beleggia, Filippo;
Elcioglu, Nursel;
Freyer, Catharine;
Gerkes, Erica;
Demirkol, Yasemin;
Knupp, Kelly;
Kuechler, Alma;
Li, Yun;
Lowenstein, Daniel;
Michaud, Jacques;
Park, Kristen;
Stegmann, Alexander;
Veenstra-Knol, Hermine;
Wieland, Thomas;
Wollnik, Bernd;
Engels, Hartmut

Publication type:

Article