Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 4

Results: 15

Analysis of MUTYH alternative transcript expression, promoter function, and the effect of human genetic variants.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 472, doi. 10.1002/humu.23709

By:

Köger, Nicole;
Brieger, Angela;
Hinrichsen, Inga M.;
Zeuzem, Stefan;
Plotz, Guido

Publication type:

Article

Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 458, doi. 10.1002/humu.23708

By:

D'Arcy, Brandon M.;
Blount, Jessa;
Prakash, Aishwarya

Publication type:

Article

Corrigendum.

Published in:: Human Mutation, 2019, v. 40, n. 4, p. 495, doi. 10.1002/humu.23596
Publication type:: Article

Cover Image, Volume 40, Issue 4.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. ii, doi. 10.1002/humu.23727

By:

Jung‐KC, Kunwar;
Himmelreich, Nastassja;
Prestegård, Karina S.;
Shi, Tie‐Jun Sten;
Scherer, Tanja;
Ying, Ming;
Jorge‐Finnigan, Ana;
Thöny, Beat;
Blau, Nenad;
Martinez, Aurora

Publication type:

Article

Cover Image, Volume 40, Issue 4.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. i, doi. 10.1002/humu.23726

By:

D'Arcy, Brandon M.;
Blount, Jessa;
Prakash, Aishwarya

Publication type:

Article

Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 483, doi. 10.1002/humu.23712

By:

Jung‐KC, Kunwar;
Himmelreich, Nastassja;
Prestegård, Karina S.;
Shi, Tie‐Jun Sten;
Scherer, Tanja;
Ying, Ming;
Jorge‐Finnigan, Ana;
Thöny, Beat;
Blau, Nenad;
Martinez, Aurora

Publication type:

Article

Toward mechanistic models for genotype–phenotype correlations in phenylketonuria using protein stability calculations.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 444, doi. 10.1002/humu.23707

By:

Scheller, Rasmus;
Stein, Amelie;
Nielsen, Sofie V.;
Marin, Frederikke I.;
Gerdes, Anne‐Marie;
Marco, Miriam;
Papaleo, Elena;
Lindorff‐Larsen, Kresten;
Hartmann‐Petersen, Rasmus

Publication type:

Article

Aberrant RNA splicing is the major pathogenic effect in a knock‐in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 426, doi. 10.1002/humu.23706

By:

Li, Yan;
Furhang, Rachel;
Ray, Amanda;
Duncan, Todd;
Soucy, Joseph;
Mahdi, Rashid;
Chaitankar, Vijender;
Gieser, Linn;
Poliakov, Eugenia;
Qian, Haohua;
Liu, Pinghu;
Dong, Lijin;
Rogozin, Igor B.;
Redmond, T. Michael

Publication type:

Article

Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 413, doi. 10.1002/humu.23705

By:

Ochoa, Soledad;
Martínez‐Pérez, Elizabeth;
Zea, Diego Javier;
Molina‐Vila, Miguel Angel;
Marino‐Buslje, Cristina

Publication type:

Article

Mutational mechanism for DAB1 (ATTTC)<sub>n</sub> insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 404, doi. 10.1002/humu.23704

By:

Loureiro, Joana R.;
Oliveira, Cláudia L.;
Mota, Carolina;
Castro, Ana F.;
Costa, Cristina;
Loureiro, José L.;
Coutinho, Paula;
Martins, Sandra;
Sequeiros, Jorge;
Silveira, Isabel

Publication type:

Article

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 392, doi. 10.1002/humu.23703

By:

Guo, Xin‐Xin;
Zou, Xiao‐Huan;
Wang, Chong;
Yao, Xiang‐Ping;
Su, Hui‐Zhen;
Lai, Lu‐Lu;
Chen, Hai‐Ting;
Lai, Jing‐Hui;
Liu, Yao‐Bin;
Chen, Dong‐Ping;
Deng, Yu‐Chun;
Lin, Pan;
Lin, Hua‐Song;
Hong, Bing‐Cong;
Yao, Qing‐Yang;
Chen, Xue‐Jiao;
Huang, Dan‐Qin;
Fu, Hong‐Xia;
Peng, Ji‐Dong;
Niu, Yan‐Fang

Publication type:

Article

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 374, doi. 10.1002/humu.23699

By:

Cowley, Mark J;
Liu, Yu‐Chi;
Oliver, Karen L.;
Carvill, Gemma;
Myers, Candace T.;
Gayevskiy, Velimir;
Delatycki, Martin;
Vlaskamp, Danique R.M.;
Zhu, Ying;
Mefford, Heather;
Buckley, Michael F.;
Bahlo, Melanie;
Scheffer, Ingrid E.;
Dinger, Marcel E.;
Roscioli, Tony

Publication type:

Article

New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 361, doi. 10.1002/humu.23697

By:

Pampalakis, Georgios;
Mitropoulos, Konstantinos;
Xeromerisiou, Georgia;
Dardiotis, Efthymios;
Deretzi, Georgia;
Anagnostouli, Maria;
Katsila, Theodora;
Rentzos, Michail;
Patrinos, George P.

Publication type:

Article

A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.

Published in:

Human Mutation, 2019, v. 40, n. 4, p. 380, doi. 10.1002/humu.23696

By:

Sun, Min;
Chen, Chunlin;
Hou, Shengping;
Li, Xue;
Wang, Huan;
Zhou, Jiaxing;
Chen, Xi;
Liu, Pei;
Kijlstra, Aize;
Lin, Sen;
Ye, Jian

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 4, p. 359, doi. 10.1002/humu.23571
Publication type:: Article