Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 5

Results: 15

Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 554, doi. 10.1111/cge.14410

By:

Faivre, Laurence;
Crépin, Jean‐Charles;
Réda, Manon;
Nambot, Sophie;
Carmignac, Virginie;
Abadie, Caroline;
Mirault, Tristan;
Faure‐Conter, Cécile;
Mazereeuw‐Hautier, Juliette;
Maza, Aude;
Puzenat, Eve;
Collonge‐Rame, Marie‐Agnès;
Bursztejn, Anne‐Claire;
Philippe, Christophe;
Thauvin‐Robinet, Christel;
Chevarin, Martin;
Abasq‐Thomas, Claire;
Amiel, Jeanne;
Arpin, Stéphanie;
Barbarot, Sébastien

Publication type:

Article

Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 607, doi. 10.1111/cge.14408

By:

Belnap, Newell;
Price‐Smith, Aiai;
Ramsey, Keri;
Leka, Kamawela;
Abraham, Anna;
Lieberman, Emma;
Hassett, Katie;
Potu, Sai;
Rudy, Natasha;
Smith, Kirstin;
Mikhail, Fady M.;
Monaghan, Kirstin G.;
Hendershot, Andrea;
Mourmans, Jeroen;
Descartes, Maria;
Huentelman, Matthew J.;
Sills, Jennifer;
Rangasamy, Sampath;
Narayanan, Vinodh

Publication type:

Article

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 542, doi. 10.1111/cge.14407

By:

Zídková, Jana;
Kramářová, Tereza;
Kopčilová, Johana;
Réblová, Kamila;
Haberlová, Jana;
Mazanec, Radim;
Voháňka, Stanislav;
Gřegořová, Andrea;
Langová, Martina;
Honzík, Tomáš;
Šoukalová, Jana;
Ošlejšková, Hana;
Solařová, Pavla;
Vyhnálková, Emílie;
Fajkusová, Lenka

Publication type:

Article

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397

By:

Capri, Yline;
Bourmance, Lucas;
Dupont, Céline;
Saint‐Frison, Marie‐Hélène;
Guimiot, Fabien;
Grotto, Sarah;
Chitrit, Yvon;
Laquerrière, Annie;
Melki, Judith

Publication type:

Article

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404

By:

Sinibaldi, Lorenzo;
Garone, Giacomo;
Mandarino, Alessandra;
Iarossi, Giancarlo;
Chioma, Laura;
Dentici, Maria Lisa;
Merla, Giuseppe;
Agolini, Emanuele;
Micalizzi, Alessia;
Mancini, Cecilia;
Niceta, Marcello;
Macchiaiolo, Marina;
Diodato, Daria;
Onesimo, Roberta;
Blandino, Rita;
Delogu, Angelica Bibiana;
De Rosa, Gabriella;
Trevisan, Valentina;
Iademarco, Mariella;
Zampino, Giuseppe

Publication type:

Article

Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 516, doi. 10.1111/cge.14403

By:

Zhang, Jun;
Zhou, Xing‐Yu;
Wang, Ao;
Lai, Yun‐Hui;
Zhang, Xiao‐Fei;
Liu, Xiao‐Tong;
Wang, Zhe;
Liu, Yu‐Dong;
Tang, Shu‐Yan;
Chen, Shi‐Ling

Publication type:

Article

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 593, doi. 10.1111/cge.14402

By:

Zhang, Jia;
Xu, Qianyue;
Deng, Dan

Publication type:

Article

Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 505, doi. 10.1111/cge.14399

By:

Fokstuen, Siv;
Quteineh, Lina;
Schwitzgebel, Valérie M.;
Köhler‐Ballan, Bettina;
Blouin, Jean‐Louis;
Abramowicz, Marc;
Nouspikel, Thierry

Publication type:

Article

GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 598, doi. 10.1111/cge.14405

By:

Bayat, Allan;
Lindau, Tobias;
Aledo‐Serrano, Angel;
Gil‐Nagel, Antonio;
Barić, Ivo;
Bartoniček, Dorotea;
Mateševac, Josipa;
Ramadža, Danijela Petković;
Žigman, Tamara;
Pušeljić, Silvija;
Dorner, Sanja;
Bupp, Caleb;
Devries, Seth;
Møller, Rikke Steensbjerre

Publication type:

Article

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 604, doi. 10.1111/cge.14396

By:

Sorrentino, Ugo;
Agosto, Caterina;
Benini, Franca;
Bertolin, Cinzia;
Cassina, Matteo;
Bonadies, Luca;
Caroppo, Francesca;
Fortina, Anna Belloni;
Salviati, Leonardo

Publication type:

Article

Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 582, doi. 10.1111/cge.14395

By:

Barata, Rui;
Fila, Marc;
Dalla‐Vale, Fabienne;
Bogarin, Roberto;
Nunes, Paula;
Ramalho, José;
Rueff, José;
Calado, Joaquim

Publication type:

Article

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non‐obstructive azoospermia.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 577, doi. 10.1111/cge.14392

By:

Xu, Junwei;
Sun, Yifan;
Zhang, Yuxiang;
Ou, Ningjing;
Bai, Haowei;
Zhao, Jingpeng;
Xu, Shuai;
Luo, Jiaqiang;
Han, Sha;
Li, Peng;
Tian, Ruhui;
Zhi, Erlei;
Huang, Yuhua;
Zhang, Jing;
Liu, Gang;
Li, Zheng;
Yao, Chencheng

Publication type:

Article

De‐novo "germline second hit" loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 571, doi. 10.1111/cge.14384

By:

Gombosh, Maya;
Yogev, Yuval;
Hadar, Noam;
Proskorovski‐Ohayon, Regina;
Aharoni, Sarit;
Gradstein, Libe;
Birk, Ohad S.

Publication type:

Article

A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 564, doi. 10.1111/cge.14383

By:

Zhou, Jianteng;
Zhang, Beibei;
Zeb, Aurang;
Ma, Ao;
Chen, Jing;
Zhao, Daren;
Rahim, Fazal;
Khan, Ranjha;
Zhang, Huan;
Zhang, Yuanwei;
Khan, Ihsan;
Kakakhel, Mian Basit Shah;
Khan, Asad;
Shah, Wasim;
Jiang, Xiaohua;
Zhang, Feng;
Yang, Xiaoyu;
Xiao, Jun;
Xu, Bo;
Ma, Hui

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 104, n. 5, p. 503, doi. 10.1111/cge.14160
Publication type:: Article