Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 8

Results: 10

Collagen transport and related pathways in Osteogenesis Imperfecta.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1121, doi. 10.1007/s00439-021-02302-2

By:

Claeys, Lauria;
Storoni, Silvia;
Eekhoff, Marelise;
Elting, Mariet;
Wisse, Lisanne;
Pals, Gerard;
Bravenboer, Nathalie;
Maugeri, Alessandra;
Micha, Dimitra

Publication type:

Article

Phenome-wide screening of GWAS data reveals the complex causal architecture of obesity.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1253, doi. 10.1007/s00439-021-02298-9

By:

García-Marín, Luis M.;
Campos, Adrián I.;
Kho, Pik-Fang;
Martin, Nicholas G.;
Cuéllar-Partida, Gabriel;
Rentería, Miguel E.

Publication type:

Article

Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1241, doi. 10.1007/s00439-021-02296-x

By:

Magallón-Lorenz, Miriam;
Fernández-Rodríguez, Juana;
Terribas, Ernest;
Creus-Batchiller, Edgar;
Romagosa, Cleofe;
Estival, Anna;
Perez Sidelnikova, Diana;
Salvador, Héctor;
Villanueva, Alberto;
Blanco, Ignacio;
Carrió, Meritxell;
Lázaro, Conxi;
Serra, Eduard;
Gel, Bernat

Publication type:

Article

Genome sequencing in families with congenital limb malformations.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y

By:

Elsner, Jonas;
Mensah, Martin A.;
Holtgrewe, Manuel;
Hertzberg, Jakob;
Bigoni, Stefania;
Busche, Andreas;
Coutelier, Marie;
de Silva, Deepthi C.;
Elçioglu, Nursel;
Filges, Isabel;
Gerkes, Erica;
Girisha, Katta M.;
Graul-Neumann, Luitgard;
Jamsheer, Aleksander;
Krawitz, Peter;
Kurth, Ingo;
Markus, Susanne;
Megarbane, Andre;
Reis, André;
Reuter, Miriam S.

Publication type:

Article

Genotype imputation in case-only studies of gene-environment interaction: validity and power.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1217, doi. 10.1007/s00439-021-02294-z

By:

Aleknonytė-Resch, Milda;
Szymczak, Silke;
Freitag-Wolf, Sandra;
Dempfle, Astrid;
Krawczak, Michael

Publication type:

Article

Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1201, doi. 10.1007/s00439-021-02291-2

By:

Ashouri, Saeideh;
Wong, Jing Hao;
Nakagawa, Hidewaki;
Shimada, Mihoko;
Tokunaga, Katsushi;
Fujimoto, Akihiro

Publication type:

Article

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1183, doi. 10.1007/s00439-021-02289-w

By:

Carrion-Castillo, Amaia;
Estruch, Sara B.;
Maassen, Ben;
Franke, Barbara;
Francks, Clyde;
Fisher, Simon E.

Publication type:

Article

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1169, doi. 10.1007/s00439-021-02287-y

By:

Hardy, Jimmaline J.;
Wyrwoll, Margot J.;
Mcfadden, William;
Malcher, Agnieszka;
Rotte, Nadja;
Pollock, Nijole C.;
Munyoki, Sarah;
Veroli, Maria V.;
Houston, Brendan J.;
Xavier, Miguel J.;
Kasak, Laura;
Punab, Margus;
Laan, Maris;
Kliesch, Sabine;
Schlegel, Peter;
Jaffe, Thomas;
Hwang, Kathleen;
Vukina, Josip;
Brieño-Enríquez, Miguel A.;
Orwig, Kyle

Publication type:

Article

Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1157, doi. 10.1007/s00439-021-02285-0

By:

Volk, Alexander E.;
Hedergott, Andrea;
Preising, Markus;
Rading, Sebastian;
Fricke, Julia;
Herkenrath, Peter;
Nürnberg, Peter;
Altmüller, Janine;
von Ameln, Simon;
Lorenz, Birgit;
Neugebauer, Antje;
Karsak, Meliha;
Kubisch, Christian

Publication type:

Article

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Published in:

Human Genetics, 2021, v. 140, n. 8, p. 1143, doi. 10.1007/s00439-021-02284-1

By:

Janecke, Andreas R.;
Liu, Xiaoqin;
Adam, Rüdiger;
Punuru, Sumanth;
Viestenz, Arne;
Strauß, Valeria;
Laass, Martin;
Sanchez, Elizabeth;
Adachi, Roberto;
Schatz, Martha P.;
Saboo, Ujwala S.;
Mittal, Naveen;
Rohrschneider, Klaus;
Escher, Johanna;
Ganesh, Anuradha;
Al Zuhaibi, Sana;
Al Murshedi, Fathiya;
AlSaleem, Badr;
Alfadhel, Majid;
Al Sinani, Siham

Publication type:

Article