Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 5

Results: 15

Long non‐coding RNAs differential expression in breast cancer subtypes: What do we know?

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 558, doi. 10.1111/cge.13502

By:

Mathias, Carolina;
Zambalde, Erika P.;
Rask, Philip;
Gradia, Daniela F.;
de Oliveira, Jaqueline C.

Publication type:

Article

The genetic pathogenesis, diagnosis and therapeutic insight of rheumatoid arthritis.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 547, doi. 10.1111/cge.13498

By:

Zamanpoor, Mansour

Publication type:

Article

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 582, doi. 10.1111/cge.13536

By:

Westphal, Dominik S.;
Leszinski, Gloria S.;
Rieger‐Fackeldey, Esther;
Graf, Elisabeth;
Weirich, Gregor;
Meitinger, Thomas;
Ostermayer, Eva;
Oberhoffer, Renate;
Wagner, Matias

Publication type:

Article

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532

By:

Angius, Andrea;
Uva, Paolo;
Oppo, Manuela;
Buers, Insa;
Persico, Ivana;
Onano, Stefano;
Cuccuru, Gianmauro;
Van Allen, Margot I.;
Hulait, Gurdip;
Aubertin, Gudrun;
Muntoni, Francesco;
Fry, Andrew E.;
Annerén, Göran;
Stattin, Eva‐Lena;
Palomares‐Bralo, María;
Santos‐Simarro, Fernando;
Cucca, Francesco;
Crisponi, Giangiorgio;
Rutsch, Frank;
Crisponi, Laura

Publication type:

Article

DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 590, doi. 10.1111/cge.13525

By:

Li, Yang;
Sha, Yanwei;
Wang, Xiong;
Ding, Lu;
Liu, Wensheng;
Ji, Zhiyong;
Mei, Libin;
Huang, Xianjing;
Lin, Shaobin;
Kong, Shuangbo;
Lu, Jinhua;
Qin, Weibing;
Zhang, Xinzhong;
Zhuang, Jianmin;
Tang, Yunge;
Lu, Zhongxian

Publication type:

Article

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 575, doi. 10.1111/cge.13521

By:

Peters, Sarika U.;
Fu, Cary;
Suter, Bernhard;
Marsh, Eric;
Benke, Timothy A.;
Skinner, Steve A.;
Lieberman, David N.;
Standridge, Shannon;
Jones, Mary;
Beisang, Arthur;
Feyma, Timothy;
Heydeman, Peter;
Ryther, Robin;
Kaufmann, Walter E.;
Glaze, Daniel G.;
Neul, Jeffrey L.;
Percy, Alan K.

Publication type:

Article

Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 601, doi. 10.1111/cge.13523

By:

Carter, Melissa T.;
Venkateswaran, Sunita;
Shapira‐Zaltsberg, Gali;
Davila, Jorge;
Humphreys, Peter;
Kernohan, Kristin D.;
Boycott, Kym M.

Publication type:

Article

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 637, doi. 10.1111/cge.13517

By:

Yan, Yang‐Tian;
Wei, Qiao;
Zheng, Yicen;
Luo, Wen‐Jiao;
Dong, Hai‐Lin;
Lu, Cong;
Zhang, Juan;
Chen, Mei‐Jiao;
Bao, Ying‐Xiao;
Li, Hong‐Fu

Publication type:

Article

Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 634, doi. 10.1111/cge.13515

By:

Truong, Brittany T.;
Yarza, Talitha K.L.;
Bootpetch Roberts, Tori;
Roberts, Susannah;
Xu, Jonathan;
Steritz, Matthew J.;
Tobias‐Grasso, Celina A.M.;
Azamian, Mahshid;
Lalani, Seema R.;
Mohlke, Karen L.;
Lee, Nanette R.;
Cutiongco‐de la Paz, Eva Maria;
Reyes‐Quintos, Maria Rina T.;
Santos‐Cortez, Regie Lyn P.;
Chiong, Charlotte M.

Publication type:

Article

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 631, doi. 10.1111/cge.13513

By:

Yüksel, Zafer;
Vogel, Florian;
Alhashem, Amal M.;
Alanzi, Talal S.A.;
Tabarki, Brahim;
Kampe, Kapil;
Kandaswamy, Krishna K.;
Werber, Martin;
Bertoli‐Avella, Aida M.;
Beetz, Christian;
Rolfs, Arndt;
Bauer, Peter

Publication type:

Article

PKD1L1‐related situs inversus associated with sideroblastic anemia.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 629, doi. 10.1111/cge.13512

By:

Rodriguez, Shaina;
Chaturvedi, Rajiv;
Blanchette, Victor;
Dell, Sharon;
Axford, Michelle;
Cada, Michaela;
Dror, Yigal

Publication type:

Article

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508

By:

Medrano, Celia;
Vega, Ana;
Navarrete, Rosa;
Ecay, M. Jesús;
Calvo, Rocío;
Pascual, Samuel Ignacio;
Ruiz‐Pons, Mónica;
Toledo, Laura;
García‐Jiménez, Inmaculada;
Arroyo, Ignacio;
Campo, Andrea;
Couce, M. Luz;
Domingo‐Jiménez, M. Rosario;
García‐Silva, M. Teresa;
González‐Gutiérrez‐Solana, Luis;
Hierro, Loreto;
Martín‐Hernández, Elena;
Martínez‐Pardo, Mercedes;
Roldán, Susana;
Tomás, Miguel

Publication type:

Article

Difficulties and challenges in the development of precision medicine.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 569, doi. 10.1111/cge.13511

By:

Liu, Xiaoqin;
Luo, Xin;
Jiang, Chunyang;
Zhao, Hui

Publication type:

Article

Hypermobile Ehlers‐Danlos‐like syndrome in Fabry disease.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 627, doi. 10.1111/cge.13497

By:

Barbey, Frédéric;
Lidove, Olivier;
Dormond, Olivier

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 95, n. 5, p. 545, doi. 10.1111/cge.13397
Publication type:: Article