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

Results: 15

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
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
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
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
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
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
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
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
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
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
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
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