Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 3

Results: 9

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 310, doi. 10.1002/humu.24160

By:

Stenton, Sarah L.;
Piekutowska‐Abramczuk, Dorota;
Kulterer, Lea;
Kopajtich, Robert;
Claeys, Kristl G.;
Ciara, Elżbieta;
Eisen, Johannes;
Płoski, Rafał;
Pronicka, Ewa;
Malczyk, Katarzyna;
Wagner, Matias;
Wortmann, Saskia B.;
Prokisch, Holger

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 3, p. 221, doi. 10.1002/humu.24040
Publication type:: Article

SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 237, doi. 10.1002/humu.24166

By:

Fortini, Barbara K.;
Tring, Stephanie;
Devall, Matthew A.;
Ali, Mourad Wagdy;
Plummer, Sarah J.;
Casey, Graham

Publication type:

Article

Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 290, doi. 10.1002/humu.24158

By:

Felicio, Paula S.;
Grasel, Rebeca S.;
Campacci, Natalia;
Paula, Andre E.;
Galvão, Henrique C. R.;
Torrezan, Giovana T.;
Sabato, Cristina S.;
Fernandes, Gabriela C.;
Souza, Cristiano P.;
Michelli, Rodrigo D.;
Andrade, Carlos E.;
Barros, Bruna Durães De Figueiredo;
Matsushita, Marcus M.;
Revil, Timothée;
Ragoussis, Jiannis;
Couch, Fergus J.;
Hart, Steven N.;
Reis, Rui M.;
Melendez, Matias E.;
Tonin, Patricia N.

Publication type:

Article

Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 300, doi. 10.1002/humu.24159

By:

Mori, Takayasu;
Chiga, Motoko;
Fujimaru, Takuya;
Kawamoto, Ryosuke;
Mandai, Shintaro;
Nanamatsu, Azuma;
Nomura, Naohiro;
Ando, Fumiaki;
Susa, Koichiro;
Sohara, Eisei;
Rai, Tatemitsu;
Uchida, Shinichi

Publication type:

Article

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 223, doi. 10.1002/humu.24152

By:

Fortuno, Cristina;
Lee, Kristy;
Olivier, Magali;
Pesaran, Tina;
Mai, Phuong L.;
Andrade, Kelvin C.;
Attardi, Laura D.;
Crowley, Stephanie;
Evans, D. Gareth;
Feng, Bing‐Jian;
Foreman, Ann K. M.;
Frone, Megan N.;
Huether, Robert;
James, Paul A.;
McGoldrick, Kelly;
Mester, Jessica;
Seifert, Bryce A.;
Slavin, Thomas P.;
Witkowski, Leora;
Zhang, Liying

Publication type:

Article

Functional and clinical implications of genetic structure in 1686 Italian exomes.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 272, doi. 10.1002/humu.24156

By:

Birolo, Giovanni;
Aneli, Serena;
Di Gaetano, Cornelia;
Cugliari, Giovanni;
Russo, Alessia;
Allione, Alessandra;
Casalone, Elisabetta;
Giorgio, Elisa;
Paraboschi, Elvezia M.;
Ardissino, Diego;
Duga, Stefano;
Asselta, Rosanna;
Matullo, Giuseppe

Publication type:

Article

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 261, doi. 10.1002/humu.24150

By:

Peter, Virginie G.;
Quinodoz, Mathieu;
Sadio, Silvia;
Held, Sebastian;
Rodrigues, Márcia;
Soares, Marta;
Sousa, Ana Berta;
Coutinho Santos, Luisa;
Damme, Markus;
Rivolta, Carlo

Publication type:

Article

Identification of SRSF10 as a regulator of SMN2 ISS‐N1.

Published in:

Human Mutation, 2021, v. 42, n. 3, p. 246, doi. 10.1002/humu.24149

By:

Frederiksen, Sabrina B.;
Holm, Lise L.;
Larsen, Martin R.;
Doktor, Thomas K.;
Andersen, Henriette S.;
Hastings, Michelle L.;
Hua, Yimin;
Krainer, Adrian R.;
Andresen, Brage S.

Publication type:

Article