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

Results: 22

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