Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 3

Results: 22

Selective forces acting on spinocerebellar ataxia type 3/Machado–Joseph disease recurrency: A systematic review and meta‐analysis.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 347, doi. 10.1111/cge.13888

By:

Sena, Lucas Schenatto;
Santos Pinheiro, Jordânia;
Saraiva‐Pereira, Maria Luiza;
Jardim, Laura Bannach

Publication type:

Article

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 457, doi. 10.1111/cge.13904

By:

Lorca, Rebeca;
Pannone, Luca;
Cuesta‐Llavona, Elías;
Bocchinfuso, Gianfranco;
Rodríguez‐Reguero, Julian;
Carpentieri, Giovanna;
Hernando, Inés;
Flex, Elisabetta;
Tartaglia, Marco;
Coto, Eliecer;
Gómez, Juan;
Martinelli, Simone

Publication type:

Article

Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 418, doi. 10.1111/cge.13903

By:

Kim, Soo Yeon;
Jang, Se Song;
Kim, Hunmin;
Hwang, Hee;
Choi, Ji Eun;
Chae, Jong‐Hee;
Kim, Ki Joong;
Lim, Byung Chan

Publication type:

Article

Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 449, doi. 10.1111/cge.13901

By:

Kumps, Candy;
D'haenens, Erika;
Vergult, Sarah;
Leus, Jasmine;
Coster, Rudy;
Jansen, Anna;
Devriendt, Koen;
Oostra, Anna;
Vanakker, Olivier M.

Publication type:

Article

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 425, doi. 10.1111/cge.13890

By:

Gentile, Mattia;
Ranieri, Carlotta;
Loconte, Daria C.;
Ponzi, Emanuela;
Ficarella, Romina;
Volpe, Paolo;
Scalzo, Gabriele;
Signorile, Martina Lepore;
Grossi, Valentina;
Cordella, Angela;
Ventola, Giovanna Maria;
Susca, Francesco C.;
Turchiano, Antonella;
Simone, Cristiano;
Resta, Nicoletta

Publication type:

Article

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 462, doi. 10.1111/cge.13908

By:

Lopergolo, Diego;
Privitera, Flavia;
Castello, Giuseppe;
Lo Rizzo, Caterina;
Mencarelli, Maria Antonietta;
Pinto, Anna Maria;
Ariani, Francesca;
Currò, Aurora;
Lamacchia, Vittoria;
Canitano, Roberto;
Vaghi, Elisabetta;
Ferrarini, Alessandra;
Baltodano, Gerardo Mejia;
Lederer, Damien;
Van Maldergem, Lionel;
Serrano, Mercedes;
Pineda, Mercè;
Fons‐Estupina, Maria Del Carmen;
Van Esch, Hilde;
Breckpot, Jeroen

Publication type:

Article

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 443, doi. 10.1111/cge.13898

By:

Sha, Yankun;
Sha, Yanwei;
Liu, Wensheng;
Zhu, Xingshen;
Weng, Mingxiang;
Zhang, Xinzong;
Wang, Yifeng;
Zhou, Huiliang

Publication type:

Article

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894

By:

Garde, Aurore;
Cornaton, Jenny;
Sorlin, Arthur;
Moutton, Sébastien;
Nicolas, Claire;
Juif, Christine;
Geneviève, David;
Perrin, Laurence;
Khau‐Van‐Kien, Philippe;
Smol, Thomas;
Vincent‐Delorme, Catherine;
Isidor, Bertrand;
Cogné, Benjamin;
Afenjar, Alexandra;
Keren, Boris;
Coubes, Christine;
Prieur, Fabienne;
Toutain, Annick;
Trousselet, Yann;
Bourgouin, Solène

Publication type:

Article

SMPD3‐ALK: A novel ALK fusion gene in lung adenocarcinoma.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 488, doi. 10.1111/cge.13891

By:

Liang, Yuepei;
Wang, Yang;
Wang, Wenjing;
Zhao, Juan;
Xu, Mian;
Zheng, Min

Publication type:

Article

A novel stop codon variant affecting ΔNp63 isoforms associated with non‐syndromic limb‐mammary phenotype and uterine cervix dysplasia.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 486, doi. 10.1111/cge.13889

By:

Guazzarotti, Laura;
Sani, Ilaria;
Giglio, Sabrina;
Brunello, Francesco;
Perilongo, Giorgio;
Bocciardi, Renata

Publication type:

Article

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 437, doi. 10.1111/cge.13897

By:

Reis, Linda M.;
Costakos, Deborah;
Wheeler, Patricia G.;
Bardakjian, Tanya;
Schneider, Adele;
Fung, Simon S. M.;
Semina, Elena V.

Publication type:

Article

Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 430, doi. 10.1111/cge.13895

By:

Matera, Ivana;
Bordo, Domenico;
Di Duca, Marco;
Lerone, Margherita;
Santamaria, Giuseppe;
Pongiglione, Marta;
Lezo, Antonella;
Diamanti, Antonella;
Spagnuolo, Maria Immacolata;
Pini Prato, Alessio;
Alberti, Daniele;
Mattioli, Girolamo;
Gandullia, Paolo;
Ceccherini, Isabella

Publication type:

Article

Null variants in DYSF result in earlier symptom onset.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 396, doi. 10.1111/cge.13887

By:

Park, Hyung Jun;
Hong, Young Bin;
Hong, Ji‐Man;
Yun, UnKyu;
Kim, Seung Woo;
Shin, Ha Young;
Kim, Seung Min;
Choi, Young‐Chul

Publication type:

Article

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 384, doi. 10.1111/cge.13886

By:

Song, Danyu;
Dai, Yi;
Chen, Xiaoyu;
Fu, Xiaona;
Chang, Xingzhi;
Wang, Ning;
Zhang, Cheng;
Yan, Chuanzhu;
Zheng, Hong;
Wu, Liwen;
Jiang, Li;
Hua, Ying;
Yang, Haipo;
Wang, Zhiqiang;
Dai, Tingjun;
Zhu, Wenhua;
Han, Chunxi;
Yuan, Yun;
Kobayashi, Kazuhiro;
Toda, Tatsushi

Publication type:

Article

Indigenous Arabs have an intermediate frequency of a Neanderthal‐derived COVID‐19 risk haplotype compared with other world populations.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 484, doi. 10.1111/cge.13885

By:

Mineta, Katsuhiko;
Goto, Kosuke;
Gojobori, Takashi;
Alkuraya, Fowzan S.

Publication type:

Article

Psychosis in NUS1 de novo mutation: New phenotypical presentation.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 475, doi. 10.1111/cge.13867

By:

Fraiman, Pedro;
Maia‐de‐Oliveira, João Paulo;
Moreira‐Neto, Manuel;
Godeiro‐Junior, Clecio

Publication type:

Article

Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 376, doi. 10.1111/cge.13883

By:

Al‐Thihli, Khalid;
Afting, Cassian;
Al‐Hashmi, Nadia;
Mohammed, Mohammed;
Sliwinski, Svenja;
Al Shibli, Naema;
Al‐Said, Khoula;
Al‐Kasbi, Ghalia;
Al‐Kharusi, Khalsa;
Merle, Uta;
Füllekrug, Joachim;
Al‐Maawali, Almundher

Publication type:

Article

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 335, doi. 10.1111/cge.13882

By:

Hanly, Ciara;
Shah, Harshil;
Au, Ping Yee Billie;
Murias, Kara

Publication type:

Article

Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 359, doi. 10.1111/cge.13881

By:

Taniguchi, Takaki;
Ando, Masahiro;
Okamoto, Yuji;
Yoshimura, Akiko;
Higuchi, Yujiro;
Hashiguchi, Akihiro;
Shiga, Kensuke;
Hayashida, Arisa;
Hatano, Taku;
Ishiura, Hiroyuki;
Mitsui, Jun;
Hattori, Nobutaka;
Mizuno, Toshiki;
Nakagawa, Masanori;
Tsuji, Shoji;
Takashima, Hiroshi

Publication type:

Article

Genotype‐phenotype study and expansion of ARL6IP1‐related complicated hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 477, doi. 10.1111/cge.13870

By:

Cao, Ye;
Manning, Melanie;
Pope, Kathleen;
He, Weimin;
Vetrini, Francesco;
Siskind, Carly;
Rosenfeld, Jill A.;
Yang, Yaping;
Xiao, Rui

Publication type:

Article

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 481, doi. 10.1111/cge.13884

By:

Fernández, Luis;
Casamayor Polo, Laura;
Bravo García‐Morato, María;
Enguita Valls, Ana Belén;
Ruiz‐Bravo, Elena;
Muñoz‐Cabello, Patricia;
Ibáñez, Kristina;
Rodríguez‐Laguna, Lara;
Martín‐Arenas, Rubén;
Ortega, Marta;
Palomares‐Bralo, María;
Pozo, Ángela;
García‐Guereta, Luis;
García‐Miñaúr, Sixto;
Lapunzina, Pablo;
Vallespín, Elena

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 99, n. 3, p. 333, doi. 10.1111/cge.13779
Publication type:: Article