Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 5

Results: 15

Common and rare variants in patients with early onset drusen maculopathy.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 414, doi. 10.1111/cge.14212

By:

de Breuk, Anita;
Lechanteur, Yara T. E.;
Astuti, Galuh;
Galbany, Jordi Corominas;
Klaver, Caroline C. W.;
Hoyng, Carel B.;
den Hollander, Anneke I.

Publication type:

Article

Expanding the phenotype of DNAJC30‐associated Leigh syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 438, doi. 10.1111/cge.14196

By:

Zawadzka, Marta;
Krygier, Magdalena;
Pawłowicz, Małgorzata;
Wilke, Matheus Vernet Machado Bressan;
Rutkowska, Karolina;
Gueguen, Naig;
Desquiret‐Dumas, Valerie;
Klee, Eric W.;
Schimmenti, Lisa A.;
Sławek, Jarosław;
Procaccio, Vincent;
Płoski, Rafał;
Mazurkiewicz‐Bełdzińska, Maria

Publication type:

Article

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203

By:

Kraatari‐Tiri, Minna;
Soikkonen, Leila;
Myllykoski, Matti;
Jamshidi, Yalda;
Karimiani, Ehsan G.;
Komulainen‐Ebrahim, Jonna;
Kallankari, Hanna;
Mignot, Cyril;
Depienne, Christel;
Keren, Boris;
Nougues, Marie‐Christine;
Alsahlawi, Zahra;
Romito, Antonio;
Martini, Javier;
Toosi, Mehran B.;
Carroll, Christopher J.;
Tripolszki, Kornelia;
Bauer, Peter;
Uusimaa, Johanna;
Bertoli‐Avella, Aida M.

Publication type:

Article

Psychiatric genetic counseling for people with copy number variants associated with psychiatric conditions.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 369, doi. 10.1111/cge.14210

By:

Morris, Emily;
Inglis, Angela;
Austin, Jehannine

Publication type:

Article

Nomograms for prognostic risk assessment in glioblastoma multiforme: Applications and limitations.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 359, doi. 10.1111/cge.14200

By:

Zheng, Hong;
Yan, Taoning;
Han, Yunsong;
Wang, Qiang;
Zhang, Guosen;
Zhang, Lu;
Zhu, Wan;
Xie, Longxiang;
Guo, Xiangqian

Publication type:

Article

Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 424, doi. 10.1111/cge.14213

By:

Ouyang, Jiamin;
Li, Shiqiang;
Sun, Wenmin;
Xiao, Xueshan;
Wang, Yingwei;
Jiang, Yi;
Zhang, Qingjiong

Publication type:

Article

A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with Marfan syndrome. Psychological consequences in Marfan syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 404, doi. 10.1111/cge.14211

By:

van Andel, Mitzi M.;
Graaumans, Kim;
Groenink, Maarten;
Zwinderman, Aeilko H.;
van Kimmenade, Roland R. J.;
Scholte, Arthur J. H. A.;
van den Berg, Maarten P.;
Dickinson, Michael G.;
Knoop, Hans;
Bosch, Jos A.;
Mulder, Barbara J. M.;
de Waard, Vivian;
Bennebroek Evertsz', Floor

Publication type:

Article

Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 461, doi. 10.1111/cge.14199

By:

Henry, Asher;
Bernhardt, Isaac;
Hayes, Ian;
Mitchelson, Bryan

Publication type:

Article

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198

By:

Morel, Victor;
Campana‐Salort, Emmanuelle;
Boyer, Amandine;
Esselin, Florence;
Walther‐Louvier, Ulrike;
Querin, Giorgia;
Latour, Philippe;
Lia, Anne‐Sophie;
Magdelaine, Corinne;
Beze‐Beyrie, Pierre;
Behin, Anthony;
Delague, Valérie;
Levy, Nicolas;
Stojkovic, Tanya;
Attarian, Shahram;
Bonello‐Palot, Nathalie

Publication type:

Article

Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 451, doi. 10.1111/cge.14204

By:

Qiu, Liyan;
Li, Caimin;
Zheng, Guiyun;
Yang, Tuyin;
Yang, Fang

Publication type:

Article

Novel mutation in TTC21A triggers partial nonsense‐mediated mRNA decay and causes male infertility with MMAF.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 459, doi. 10.1111/cge.14197

By:

Liu, Gang;
Yin, Xinyu;
Xing, Xiaowei;
Yin, Silu;
Shen, Yuehan;
Zhang, Huan;
Lin, Ge;
Lu, Guangxiu;
Li, Weina

Publication type:

Article

Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 391, doi. 10.1111/cge.14201

By:

He, Guo‐Wei;
Maslen, Cheryl L.;
Chen, Huan‐Xin;
Hou, Hai‐Tao;
Bai, Xiao‐Yan;
Wang, Xiu‐Li;
Liu, Xiao‐Cheng;
Lu, Wan‐Li;
Chen, Xin‐Xin;
Chen, Wei‐Dan;
Xing, Quan‐Sheng;
Wu, Qin;
Wang, Jun;
Yang, Qin

Publication type:

Article

De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 434, doi. 10.1111/cge.14194

By:

Hernando‐Davalillo, Cristina;
Martín, Adrián Alcalá San;
Borregan Prats, Mar;
Ortigoza‐Escobar, Juan Darío

Publication type:

Article

A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 457, doi. 10.1111/cge.14187

By:

De Franco, Elisa;
Wakeling, Matthew N.;
Frew, Russel D.;
Russ‐Silsby, James;
Peters, Catherine;
Marks, Stephen D.;
Hattersley, Andrew T.;
Flanagan, Sarah E.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2022, v. 102, n. 5, p. 357, doi. 10.1111/cge.13991
Publication type:: Article