Works matching IS 00099163 AND DT 2020 AND VI 97 AND IP 3

Results: 23

Front Cover.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. i, doi. 10.1111/cge.13724

By:

Alkuraya, Hisham;
Patel, Nisha;
Ibrahim, Niema;
Al Ghamdi, Bandar;
Alsulaiman, Sulaiman M.;
Nowilaty, Sawsan R.;
Abboud, Emad;
Alturki, Ramadan;
Alkharashi, Abdullah;
Eyaid, Wafaa;
Almasseri, Zainab;
Alzaidan, Hamad;
Alotaibi, Mohammed D.;
Abu El‐Asrar, Ahmed M.;
Alamro, Bandar;
Helaby, Rana;
Elshaer, Amani;
Almontashiri, Naif A.M.;
Al‐Hussaini, Abdulrahman A.;
Alkuraya, Fowzan S.

Publication type:

Article

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 457, doi. 10.1111/cge.13697

By:

Mariano, Cibelle;
Alves, Ana Catarina;
Medeiros, Ana Margarida;
Chora, Joana Rita;
Antunes, Marília;
Futema, Marta;
Humphries, Steve E.;
Bourbon, Mafalda

Publication type:

Article

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696

By:

Desprairies, Camille;
Valence, Stéphanie;
Maurey, Hélène;
Helal, Suzette I.;
Weckhuysen, Sarah;
Soliman, Hala;
Mefford, Heather C.;
Spentchian, Myrtille;
Héron, Delphine;
Leguern, Eric;
Nava, Caroline;
Bouilleret, Viviane;
Moretti, Raffaella;
Mignot, Cyril

Publication type:

Article

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 467, doi. 10.1111/cge.13689

By:

Tenorio, Jair;
Nevado, Julián;
González‐Meneses, Antonio;
Arias, Pedro;
Dapía, Irene;
Venegas‐Vega, Carlos A.;
Calvente, María;
Hernández, Alicia;
Landera, Leandro;
Ramos, Sergio;
Cigudosa, Juan Cruz;
Pérez‐Jurado, Luis A.;
Lapunzina, Pablo

Publication type:

Article

COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 396, doi. 10.1111/cge.13683

By:

Morlino, Silvia;
Micale, Lucia;
Ritelli, Marco;
Rohrbach, Marianne;
Zoppi, Nicoletta;
Vandersteen, Anthony;
Mackay, Sara;
Agolini, Emanuele;
Cocciadiferro, Dario;
Sasaki, Erina;
Madeo, Annalisa;
Ferraris, Alessandro;
Reardon, Willie;
Di Rocco, Maja;
Novelli, Antonio;
Grammatico, Paola;
Malfait, Fransiska;
Mazza, Tommaso;
Hakim, Alan;
Giunta, Cecilia

Publication type:

Article

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 447, doi. 10.1111/cge.13676

By:

Alkuraya, Hisham;
Patel, Nisha;
Ibrahim, Niema;
Al Ghamdi, Bandar;
Alsulaiman, Sulaiman M.;
Nowilaty, Sawsan R.;
Abboud, Emad;
Alturki, Ramadan;
Alkharashi, Abdullah;
Eyaid, Wafaa;
Almasseri, Zainab;
Alzaidan, Hamad;
Alotaibi, Mohammed D.;
Abu El‐Asrar, Ahmed M.;
Alamro, Bandar;
Helaby, Rana;
Elshaer, Amani;
Almontashiri, Naif A.M.;
Al‐Hussaini, Abdulrahman A.;
Alkuraya, Fowzan S.

Publication type:

Article

Psychological factors that determine people's willingness‐to‐share genetic data for research.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 483, doi. 10.1111/cge.13686

By:

Bearth, Angela;
Siegrist, Michael

Publication type:

Article

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 383, doi. 10.1111/cge.13680

By:

Zhang, Boyan;
Zhang, Yue;
Wu, Naichao;
Li, Jianing;
Liu, He;
Wang, Jincheng

Publication type:

Article

Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 532, doi. 10.1111/cge.13669

By:

Guan, Rong‐Yuan;
Wu, Jian‐Jun;
Ding, Zheng‐Tong;
Wang, Jian;
Sun, Yi‐Min

Publication type:

Article

Uptake of polygenic risk information among women at increased risk of breast cancer.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 492, doi. 10.1111/cge.13687

By:

Yanes, Tatiane;
Meiser, Bettina;
Kaur, Rajneesh;
Scheepers‐Joynt, Maatje;
McInerny, Simone;
Taylor, Shelby;
Barlow‐Stewart, Kristine;
Antill, Yoland;
Salmon, Lucinda;
Smyth, Courtney;
Young, Mary‐Anne;
James, Paul A.

Publication type:

Article

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 426, doi. 10.1111/cge.13673

By:

Bauwens, Miriam;
Storch, Stephan;
Weisschuh, Nicole;
Ceuterick‐de Groote, Chantal;
De Rycke, Riet;
Guillemyn, Brecht;
De Jaegere, Sarah;
Coppieters, Frauke;
Van Coster, Rudy;
Leroy, Bart P.;
De Baere, Elfride

Publication type:

Article

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 437, doi. 10.1111/cge.13675

By:

Parente, Daniel J.;
Morris, Stephanie M.;
McKinstry, Robert C.;
Brandt, Tracy;
Gabau, Elisabeth;
Ruiz, Anna;
Shinawi, Marwan

Publication type:

Article

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 407, doi. 10.1111/cge.13663

By:

Ye, Qing;
Shen, Qian;
Rao, Jia;
Zhang, Aihua;
Zheng, Bixia;
Liu, Xiaorong;
Shen, Ying;
Chen, Zhi;
Wu, Yubing;
Hou, Ling;
Jian, Shan;
Wei, Min;
Ma, Mingsheng;
Sun, Shuzhen;
Li, Qian;
Dang, Xiqiang;
Wang, Ying;
Xu, Hong;
Mao, Jianhua

Publication type:

Article

"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255‐260".

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 538, doi. 10.1111/cge.13671

By:

Lindsley, Andrew W.

Publication type:

Article

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 516, doi. 10.1111/cge.13666

By:

Richmond, Christopher M.;
Leventer, Richard;
Ryan, Monique M.;
Delatycki, Martin B.

Publication type:

Article

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 521, doi. 10.1111/cge.13668

By:

Stregapede, Fabrizia;
Travaglini, Lorena;
Rebelo, Adriana P.;
Cintra, Vivian Pedigone;
Bellacchio, Emanuele;
Bosco, Luca;
Alfieri, Paolo;
Pro, Stefano;
Zuchner, Stephan;
Bertini, Enrico;
Nicita, Francesco

Publication type:

Article

X‐linked intellectual disability: Phenotypic expression in carrier females.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667

By:

Ziats, Catherine A.;
Schwartz, Charles E.;
Gecz, Jozef;
Shaw, Marie;
Field, Michael J.;
Stevenson, Roger E.;
Neri, Giovanni

Publication type:

Article

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 509, doi. 10.1111/cge.13661

By:

Fassad, Mahmoud R.;
Shoman, Walaa I.;
Morsy, Heba;
Patel, Mitali P.;
Radwan, Nesrine;
Jenkins, Lucy;
Cullup, Thomas;
Fouda, Eman;
Mitchison, Hannah M.;
Fasseeh, Nader

Publication type:

Article

Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 529, doi. 10.1111/cge.13659

By:

Schauren, Juliana S.;
Torres, Ana C.M.B.G.;
de Almeida, Rodrigo C.;
Santos, Pablo S.C.;
Mulinari‐Brenner, Fabiane;
Lima, Luiz H.;
Zago Filho, Luiz A.;
Shiokawa, Naoye;
Bicalho, Maria da Graça;
Sato, Mario T.

Publication type:

Article

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 527, doi. 10.1111/cge.13655

By:

Bataille, Pauline;
Michaud, Vincent;
Robert, Matthieu P.;
Bekel, Lilia;
Leclerc‐Mercier, Stéphanie;
Harroche, Annie;
Célérier, Charlotte;
Lasseaux, Eulalie;
Borgel, Delphine;
Bremond‐Gignac, Dominique;
Bodemer, Christine;
Arveiler, Benoit;
Hadj‐Rabia, Smaïl

Publication type:

Article

Toni Mochty: Bardet Biedl syndrome "avant la lettre".

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 536, doi. 10.1111/cge.13647

By:

de Herder, Wouter

Publication type:

Article

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 502, doi. 10.1111/cge.13660

By:

Reis, Linda M.;
Houssin, Nathalie S.;
Zamora, Carlos;
Abdul‐Rahman, Omar;
Kalish, Jennifer M.;
Zackai, Elaine H.;
Plageman, Timothy F.;
Semina, Elena V.

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 97, n. 3, p. 381, doi. 10.1111/cge.13569
Publication type:: Article