Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 4

Results: 16

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 455, doi. 10.1111/cge.14497

By:

Liaqat, Khurram;
Treat, Kayla;
Wilson, Theodore E.;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 440, doi. 10.1111/cge.14473

By:

Xu, Shuai;
Zhao, Jingpeng;
Gao, Feng;
Zhang, Yuxiang;
Luo, Jiaqiang;
Zhang, Chenwang;
Tian, Ruhui;
Zhi, Erlei;
Zhang, Jianxiong;
Bai, Furong;
Sun, Hongfang;
Zhao, Fujun;
Huang, Yuhua;
Li, Peng;
Jiang, Liren;
Li, Zheng;
Yao, Chencheng;
Zhou, Zhi

Publication type:

Article

Patient perspective in perceived comparative genetic mutation risk: An exploratory review.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 355, doi. 10.1111/cge.14489

By:

Cilli, Eleonora;
Guerra, Federica;
Ranieri, Jessica;
Brancati, Francesco;
Di Giacomo, Dina

Publication type:

Article

Therapeutic strategies for aberrant splicing in cancer and genetic disorders.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 345, doi. 10.1111/cge.14478

By:

Shi, Wenhua;
Tang, Jingqun;
Xiang, Juanjuan

Publication type:

Article

Genotype–phenotype correlation in Prader‐Willi syndrome: A large‐sample analysis in China.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 415, doi. 10.1111/cge.14477

By:

Mao, Shujiong;
Yang, Lili;
Gao, Ying;
Zou, Chaochun

Publication type:

Article

CCDC88C variants are associated with focal epilepsy and genotype–phenotype correlation.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 397, doi. 10.1111/cge.14476

By:

Chen, Yu‐Jie;
Wang, Wen‐Jie;
Zou, Dong‐Fang;
Luo, Jun‐Xia;
Jin, Pei‐Yan;
Jin, Liang;
Liu, Xiao‐Rong;
Liao, Wei‐Ping;
Li, Bin;
Chen, Yong‐Jun

Publication type:

Article

RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 434, doi. 10.1111/cge.14474

By:

Hordyjewska‐Kowalczyk, Ewa;
Wuyts, Wim;
Boeckx, Nele;
Verdonck, An;
Hendrickx, Gretl;
Mortier, Geert

Publication type:

Article

The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 446, doi. 10.1111/cge.14482

By:

Kartanou, Chrisoula;
Mitrousias, Alexandros;
Pellerin, David;
Kontogeorgiou, Zoi;
Iruzubieta, Pablo;
Dicaire, Marie‐Josée;
Danzi, Matt C.;
Koniari, Chrysoula;
Athanassopoulos, Konstantinos;
Panas, Marios;
Stefanis, Leonidas;
Zuchner, Stephan;
Brais, Bernard;
Houlden, Henry;
Karadima, Georgia;
Koutsis, Georgios

Publication type:

Article

A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 430, doi. 10.1111/cge.14472

By:

Canosa, Antonio;
Cabras, Sara;
Di Pede, Francesca;
Manera, Umberto;
Vasta, Rosario;
Moglia, Cristina;
Calvo, Andrea;
Gallone, Salvatore;
Chiò, Adriano

Publication type:

Article

Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 406, doi. 10.1111/cge.14471

By:

Riedhammer, Korbinian M.;
Simmendinger, Hannes;
Tasic, Velibor;
Putnik, Jovana;
Abazi‐Emini, Nora;
Stajic, Natasa;
Berutti, Riccardo;
Weidenbusch, Marc;
Patzer, Ludwig;
Lungu, Adrian;
Milosevski‐Lomic, Gordana;
Günthner, Roman;
Braunisch, Matthias C.;
Ćomić, Jasmina;
Hoefele, Julia

Publication type:

Article

Identifying candidate genes underlying isolated congenital anosmia.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 376, doi. 10.1111/cge.14470

By:

Kamarck, Marissa L.;
Trimmer, Casey;
Murphy, Nicolle R.;
Gregory, Kristen M.;
Manoel, Diogo;
Logan, Darren W.;
Saraiva, Luis R.;
Mainland, Joel D.

Publication type:

Article

Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 423, doi. 10.1111/cge.14469

By:

Nazmina, Gul;
Khan, Amjad;
Jiang, Jiuhong;
Miao, Zhichao;
Khan, Shahid Niaz;
Khan, Muhammad Ismail;
Shah, Abdul Haleem;
Shah, Ayesha Haleem;
Khisroon, Muhammad;
Haack, Tobias B

Publication type:

Article

Spermatozoa in mice lacking the nucleoporin NUP210L show defects in head shape and motility but not in nuclear compaction or histone replacement.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 364, doi. 10.1111/cge.14468

By:

Al Dala Ali, Maha;
Longepied, Guy;
Nicolet, Aurore;
Metzler‐Guillemain, Catherine;
Mitchell, Michael J.

Publication type:

Article

SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 386, doi. 10.1111/cge.14467

By:

Vanden Broek, Kara;
Ryu, Jae‐Ryeon;
Perrier, Renee;
Tyndall, Amanda V.;
Childs, Sarah J.;
Au, Ping Yee Billie

Publication type:

Article

Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 453, doi. 10.1111/cge.14465

By:

Kamdar, Payal;
Geetha, Thenral S.;
Palocaren, Thomas;
Kandagaddala, Madhavi;
Chinniah, Praveen Kumar;
Murugan, Sakthivel;
Vedam, Ramprasad;
Danda, Sumita

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 105, n. 4, p. 343, doi. 10.1111/cge.14369
Publication type:: Article