Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 4

Results: 18

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 390, doi. 10.1111/cge.13813

By:

Saygili, Seha;
Atayar, Emine;
Canpolat, Nur;
Elicevik, Mehmet;
Kurugoglu, Sebuh;
Sever, Lale;
Caliskan, Salim;
Ozaltin, Fatih

Publication type:

Article

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 331, doi. 10.1111/cge.13812

By:

Robinson, H.K.;
Zaklyazminskaya, E.;
Povolotskaya, I.;
Surikova, Y.;
Mallin, L.;
Armstrong, C.;
Mabin, D.;
Benke, P.J.;
Chrisant, M.R.;
McDonald, M.;
Marboe, C.C.;
Agre, K.E.;
Deyle, D.R.;
McWalter, K.;
Douglas, G.;
Balashova, M.S.;
Kaimonov, V.;
Shirokova, N.;
Pomerantseva, E.;
Turner, C.L.

Publication type:

Article

Front Cover.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. i, doi. 10.1111/cge.13850

By:

Yang, Lin;
Chen, Xiang;
Liu, Xu;
Dong, Xinran;
Ye, Chang;
Deng, Dongli;
Lu, Yulan;
Lin, Yifeng;
Zhou, Wenhao

Publication type:

Article

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 418, doi. 10.1111/cge.13820

By:

Eggermann, Thomas;
Kraft, Florian;
Kloth, Katja;
Klopocki, Eva;
Hüning, Irina;
Hempel, Maja;
Kunstmann, Erdmute

Publication type:

Article

Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 408, doi. 10.1111/cge.13819

By:

Meyer, Robert;
Begemann, Matthias;
Demuth, Stephanie;
Kraft, Florian;
Dey, Daniela;
Schüler, Herdit;
Busse, Sabine;
Häusler, Martin;
Zerres, Klaus;
Kurth, Ingo;
Eggermann, Thomas;
Elbracht, Miriam

Publication type:

Article

COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 402, doi. 10.1111/cge.13816

By:

Mandel, Hanna;
Cohen Kfir, Nehama;
Fedida, Ayalla;
Shuster Biton, Efrat;
Odeh, Marwan;
Kalfon, Limor;
Ben‐Harouch, Shani;
Fleischer Sheffer, Vered;
Hoffman, Yoav;
Goldberg, Yael;
Dinwiddie, April;
Dumin, Elena;
Eran, Ayelet;
Apel‐Sarid, Liat;
Tiosano, Dov;
Falik‐Zaccai, Tzipora C.

Publication type:

Article

Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 396, doi. 10.1111/cge.13815

By:

Yang, Yihong;
Jiang, Chuan;
Zhang, Xueguang;
Liu, Xue;
Li, Jinghong;
Qiao, Xiaoyong;
Liu, Hongqian;
Shen, Ying

Publication type:

Article

Combined in vitro and in silico analyses of FGFR1 variants: genotype‐phenotype study in idiopathic hypogonadotropic hypogonadism.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 341, doi. 10.1111/cge.13814

By:

Wang, Daoqi;
Niu, Yonghua;
Tan, Jiahong;
Chen, Yinwei;
Xu, Hao;
Ling, Qing;
Gong, Jianan;
Ling, Le;
Wang, Jiaxin;
Wang, Tao;
Liu, Jihong

Publication type:

Article

Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 365, doi. 10.1111/cge.13818

By:

Yang, Lin;
Chen, Xiang;
Liu, Xu;
Dong, Xinran;
Ye, Chang;
Deng, Dongli;
Lu, Yulan;
Lin, Yifeng;
Zhou, Wenhao

Publication type:

Article

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 353, doi. 10.1111/cge.13817

By:

Brownstein, Zippora;
Gulsuner, Suleyman;
Walsh, Tom;
Martins, Fábio T.A.;
Taiber, Shahar;
Isakov, Ofer;
Lee, Ming K.;
Bordeynik‐Cohen, Mor;
Birkan, Maria;
Chang, Weise;
Casadei, Silvia;
Danial‐Farran, Nada;
Abu‐Rayyan, Amal;
Carlson, Ryan;
Kamal, Lara;
Arnthórsson, Asgeir Ö.;
Sokolov, Meirav;
Gilony, Dror;
Lipschitz, Noga;
Frydman, Moshe

Publication type:

Article

Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 384, doi. 10.1111/cge.13811

By:

Trimouille, Aurélien;
Tingaud‐Sequeira, Angèle;
Lacombe, Didier;
Duelund Hjortshøj, Tina;
Kreiborg, Sven;
Buciek Hove, Hanne;
Rooryck, Caroline

Publication type:

Article

Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 379, doi. 10.1111/cge.13810

By:

Rodriguez‐Revenga, Laia;
Madrigal, Irene;
Borrell, Antoni;
Martinez, Josep M.;
Sabria, Joan;
Martin, Lourdes;
Jimenez, Wladimiro;
Mira, Aurea;
Badenas, Celia;
Milà, Montserrat

Publication type:

Article

New insight into the role of substance P/neurokinin‐1 receptor system in breast cancer progression and its crosstalk with microRNAs.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 322, doi. 10.1111/cge.13750

By:

Ebrahimi, Safieh;
Javid, Hosein;
Alaei, Amin;
Hashemy, Seyed Isaac

Publication type:

Article

Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 416, doi. 10.1111/cge.13809

By:

Lamartine S. Monteiro, Marta;
Vandernoot, Isabelle;
Desmyter, Laurence;
Wermenbol, Vanessa;
Naeije, Gilles;
Remiche, Gauthier

Publication type:

Article

Craniosynostosis‐microphthalmia syndrome belongs to the spectrum of BCOR‐related disorders.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 413, doi. 10.1111/cge.13808

By:

Cinnirella, Giacomo;
Taylor, Rachel L.;
Coco, Claudio;
Piludu, Francesca;
Vidiri, Antonello;
Sinibaldi, Lorenzo;
Kornak, Uwe;
Black, Graeme;
Brancati, Francesco

Publication type:

Article

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 374, doi. 10.1111/cge.13807

By:

Niemann, Jan Hendrik;
Du, Chen;
Morlot, Susanne;
Schmidt, Gunnar;
Auber, Bernd;
Kaune, Beate;
Göhring, Gudrun;
Ripperger, Tim;
Schlegelberger, Brigitte;
Hofmann, Winfried;
Smol, Thomas;
Ait‐Yahya, Emilie;
Raimbault, Anna;
Lambilliotte, Anne;
Petit, Florence;
Steinemann, Doris

Publication type:

Article

Epigenetic variations due to nutritional status in early‐life and its later impact on aging and disease.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 313, doi. 10.1111/cge.13748

By:

Gomez‐Verjan, Juan C.;
Barrera‐Vázquez, Oscar S.;
García‐Velázquez, Lizbeth;
Samper‐Ternent, Rafael;
Arroyo, Pedro

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 98, n. 4, p. 311, doi. 10.1111/cge.13576
Publication type:: Article