Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 6

Results: 19

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 943, doi. 10.1111/cge.13757

By:

Thompson, Bryony A.;
Snow, Angela K.;
Koptiuch, Cathryn;
Kohlmann, Wendy K.;
Mooney, Ryan;
Johnson, Sara;
Huff, Chad D.;
Yu, Yao;
Teerlink, Craig C.;
Feng, Bing‐Jian;
Neklason, Deborah W.;
Cannon‐Albright, Lisa A.;
Tavtigian, Sean V.

Publication type:

Article

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 940, doi. 10.1111/cge.13753

By:

Pinelli, Michele;
Terrone, Gaetano;
Troglio, Flavia;
Squeo, Gabriella Maria;
Cappuccio, Gerarda;
Imperati, Floriana;
Pignataro, Piero;
Genesio, Rita;
Nitch, Lucio;
Del Giudice, Ennio;
Merla, Giuseppe;
Testa, Giuseppe;
Brunetti‐Pierri, Nicola

Publication type:

Article

Primrose syndrome: Characterization of the phenotype in 42 patients.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 890, doi. 10.1111/cge.13749

By:

Melis, Daniela;
Carvalho, Daniel;
Barbaro‐Dieber, Tina;
Espay, Alberto J.;
Gambello, Michael J.;
Gener, Blanca;
Gerkes, Erica;
Hitzert, Marrit M.;
Hove, Hanne B.;
Jansen, Sandra;
Jira, Petr E.;
Lachlan, Katherine;
Menke, Leonie A.;
Narayanan, Vinodh;
Ortiz, Damara;
Overwater, Eline;
Posmyk, Renata;
Ramsey, Keri;
Rossi, Alessandro;
Sandoval, Renata Lazari

Publication type:

Article

Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 938, doi. 10.1111/cge.13747

By:

Liu, Gang;
Wang, Ni;
Zhang, Huan;
Yin, Silu;
Dai, Haibo;
Lin, Ge;
Li, Weina

Publication type:

Article

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 878, doi. 10.1111/cge.13745

By:

Wang, Qi;
Hu, Zhenxian;
Chang, Xingzhi;
Yu, Meng;
Xie, Zhiying;
Lv, He;
Zhang, Wei;
Xiong, Hui;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

A genome‐wide association study identifies FSHR rs2300441 associated with follicle‐stimulating hormone levels.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 869, doi. 10.1111/cge.13741

By:

Yan, Jinting;
Tian, Ye;
Gao, Xingjian;
Cui, Linlin;
Ning, Yunna;
Cao, Yongzhi;
Chen, Yan;
Peng, Fuduan;
You, Li;
Liu, Fan;
Zhao, Han

Publication type:

Article

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 933, doi. 10.1111/cge.13740

By:

Panda, Isha;
Ahmad, Istaq;
Sagar, Shakti;
Zahra, Sana;
Shamim, Uzma;
Sharma, Suvasini;
Faruq, Mohammed

Publication type:

Article

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 927, doi. 10.1111/cge.13739

By:

Aagaard Nolting, Line;
Brasch‐Andersen, Charlotte;
Cox, Helen;
Kanani, Farah;
Parker, Michael;
Fry, Andrew E.;
Loddo, Sara;
Novelli, Antonio;
Dentici, Maria Lisa;
Joss, Shelagh;
Jørgensen, Joan P.;
Fagerberg, Christina R.

Publication type:

Article

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 857, doi. 10.1111/cge.13738

By:

Peces, Ramón;
Mena, Rocio;
Peces, Carlos;
Cuesta, Emilio;
Selgas, Rafael;
Barruz, Pilar;
Lapunzina, Pablo;
Nevado, Julián

Publication type:

Article

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 844, doi. 10.1111/cge.13737

By:

Abolhassani, Hassan;
Marcotte, Harold;
Fang, Mingyan;
Hammarström, Lennart

Publication type:

Article

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 835, doi. 10.1111/cge.13736

By:

Eaton, Alison;
Hartley, Taila;
Kernohan, Kristin;
Ito, Yoko;
Lamont, Ryan;
Parboosingh, Jillian;
Barrowman, Nick;
Innes, A. Micheil;
Boycott, Kym

Publication type:

Article

Applications of CRISPR‐Cas9 in gynecological cancer research.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 827, doi. 10.1111/cge.13717

By:

Zhang, Wei;
Liu, Yan;
Zhou, Xing;
Zhao, Rong;
Wang, Hongbo

Publication type:

Article

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 920, doi. 10.1111/cge.13735

By:

Staretz‐Chacham, Orna;
Noyman, Iris;
Wormser, Ohad;
Abu Quider, Abed;
Hazan, Guy;
Morag, Iris;
Hadar, Noam;
Raymond, Kimiyo;
Birk, Ohad S.;
Ferreira, Carlos R.;
Koifman, Arie

Publication type:

Article

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 908, doi. 10.1111/cge.13728

By:

Vogt, Julie;
Al‐Saedi, Atif;
Willis, Tracey;
Male, Alison;
McKie, Arthur;
Kiely, Nigel;
Maher, Eamonn R.

Publication type:

Article

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 799, doi. 10.1111/cge.13726

By:

Greco, Anna;
Goossens, Remko;
Engelen, Baziel;
Maarel, Silvère M.

Publication type:

Article

A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 915, doi. 10.1111/cge.13730

By:

Kariminejad, Ariana;
Ghaderi‐Sohi, Siavash;
Keshavarz, Elham;
Hashemi, Seyed Abolghasem;
Parsimehr, Elham;
Szenker‐Ravi, Emmanuelle;
Khatoo, Muznah;
Faraji Zonooz, Mehrshid;
Reversade, Bruno;
Najmabadi, Hossein;
Hennekam, Raoul C.

Publication type:

Article

Genetic and epigenetic regulation of abdominal aortic aneurysms.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 815, doi. 10.1111/cge.13705

By:

Mangum, Kevin D.;
Farber, Mark A.

Publication type:

Article

upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts.

Published in:

Clinical Genetics, 2020, v. 97, n. 6, p. 902, doi. 10.1111/cge.13727

By:

Hjortshøj, Tina D.;
Sørensen, Anna R.;
Yusibova, Melodi;
Hansen, Bo M.;
Dunø, Morten;
Balslev‐Harder, Marie;
Grønskov, Karen;
Hagen, Johanna M.;
Polstra, Abeltje M.;
Eggermann, Thomas;
Finken, Martijn J.J.;
Tümer, Zeynep

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2020, v. 97, n. 6, p. 797, doi. 10.1111/cge.13572
Publication type:: Article