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