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

Results: 15

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
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
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
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
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
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
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
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
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