Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 3

Results: 14

Corrigendum.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 357, doi. 10.1002/humu.23711

By:

Osterbur, Marika L.;
Zheng, Renjian;
Marion, Robert;
Walsh, Christine;
McDonald, Thomas V.

Publication type:

Article

UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 258, doi. 10.1002/humu.23702

By:

Wang, Qingfeng;
Su, Guannan;
Tan, Xiao;
Deng, Jing;
Du, Liping;
Huang, Xinyue;
Lv, Meng;
Yi, Shenglan;
Hou, Shengping;
Kijlstra, Aize;
Yang, Peizeng

Publication type:

Article

A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 243, doi. 10.1002/humu.23701

By:

Niazi, Rojeen;
Fanning, Elizabeth A.;
Depienne, Christel;
Sarmady, Mahdi;
Abou Tayoun, Ahmad N.

Publication type:

Article

Molecular subtyping of gastric cancer combining genetic and epigenetic anomalies provides distinct clinicopathological features and prognostic impacts.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 347, doi. 10.1002/humu.23700

By:

Tahara, Tomomitsu;
Tahara, Sayumi;
Horiguchi, Noriyuki;
Okubo, Masaaki;
Terada, Tsuyoshi;
Yamada, Hyuga;
Yoshida, Dai;
Omori, Takafumi;
Osaki, Hayato;
Maeda, Kohei;
Kamano, Toshiaki;
Funasaka, Kohei;
Nagasaka, Mitsuo;
Nakagawa, Yoshihito;
Shibata, Tomoyuki;
Ohmiya, Naoki

Publication type:

Article

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 326, doi. 10.1002/humu.23692

By:

Clarke, Luka A.;
Awatade, Nikhil T.;
Felício, Veronica M.;
Silva, Iris A.;
Calucho, Maite;
Pereira, Luisa;
Azevedo, Pilar;
Cavaco, José;
Barreto, Celeste;
Bertuzzo, Carmen;
Gartner, Silvia;
Beekman, Jeffrey;
Amaral, Margarida D.

Publication type:

Article

Corrigendum.

Published in:: Human Mutation, 2019, v. 40, n. 3, p. 355, doi. 10.1002/humu.23710
Publication type:: Article

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 335, doi. 10.1002/humu.23698

By:

Shin, Dong Hoon;
Jung, Jinsei;
Koh, Young Ik;
Rim, John Hoon;
Lee, Joon Suk;
Choi, Hye Ji;
Joo, Sun Young;
Yu, Seyoung;
Cha, Do Hyeon;
Lee, Seung Yeon;
Lee, Ji Hyun;
Lee, Min Goo;
Choi, Jae Young;
Gee, Heon Yung

Publication type:

Article

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 267, doi. 10.1002/humu.23694

By:

Rehman, Atteeq U.;
Najafi, Maryam;
Kambouris, Marios;
Al‐Gazali, Lihadh;
Makrythanasis, Periklis;
Rad, Abolfazl;
Maroofian, Reza;
Rajab, Anna;
Stark, Zornitza;
Hunter, Jill V.;
Bakey, Zeineb;
Tokita, Mari J.;
He, Weimin;
Vetrini, Francesco;
Petersen, Andrea;
Santoni, Federico A.;
Hamamy, Hanan;
Wu, Kaman;
Al‐Jasmi, Fatma;
Helmstädter, Martin

Publication type:

Article

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 299, doi. 10.1002/humu.23693

By:

Girisha, Katta M.;
Elsner, Leonie;
Neethukrishna, Kausthubham;
Muranjan, Mamta;
Shukla, Anju;
Bhavani, Gandham SriLakshmi;
Nishimura, Gen;
Kutsche, Kerstin;
Mortier, Geert

Publication type:

Article

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 288, doi. 10.1002/humu.23695

By:

Youssefian, Leila;
Vahidnezhad, Hassan;
Saeidian, Amir Hossein;
Touati, Andrew;
Sotoudeh, Soheila;
Mahmoudi, Hamidreza;
Mansouri, Parvin;
Daneshpazhooh, Maryam;
Aghazadeh, Nessa;
Hesari, Kambiz Kamyab;
Basiri, Mohammadreza;
Londin, Eric;
Kumar, Gaurav;
Zeinali, Sirous;
Fortina, Paolo;
Uitto, Jouni

Publication type:

Article

Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 310, doi. 10.1002/humu.23691

By:

Han, Meng;
Zhao, Miao;
Cheng, Chen;
Huang, Yuan;
Han, Shengna;
Li, Wenjuan;
Tu, Xin;
Luo, Xuan;
Yu, Xiaoling;
Liu, Yinan;
Chen, Qiuyun;
Ren, Xiang;
Wang, Qing Kenneth;
Ke, Tie

Publication type:

Article

A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. 281, doi. 10.1002/humu.23690

By:

Chen, Xiaomin;
Jin, Jing;
Wang, Qiongdan;
Xue, Huangqi;
Zhang, Na;
Du, Yaoqiang;
Zhang, Tao;
Zhang, Bing;
Wu, Jinyu;
Liu, Zhenwei

Publication type:

Article

Cover Image, Volume 40, Issue 3.

Published in:

Human Mutation, 2019, v. 40, n. 3, p. i, doi. 10.1002/humu.22892

By:

Rehman, Atteeq U.;
Najafi, Maryam;
Kambouris, Marios;
Al‐Gazali, Lihadh;
Makrythanasis, Periklis;
Rad, Abolfazl;
Maroofian, Reza;
Rajab, Anna;
Stark, Zornitza;
Hunter, Jill V.;
Bakey, Zeineb;
Tokita, Mari J.;
He, Weimin;
Vetrini, Francesco;
Petersen, Andrea;
Santoni, Federico A.;
Hamamy, Hanan;
Wu, Kaman;
Al‐Jasmi, Fatma;
Helmstädter, Martin

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 3, p. 241, doi. 10.1002/humu.23570
Publication type:: Article