Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 5

Results: 17

Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514

By:

Faridi, Rabia;
Stratton, Pamela;
Salmeri, Noemi;
Morell, Robert J.;
Khan, Asma Ali;
Usmani, Muhammad A.;
Newman, William G.;
Riazuddin, Sheikh;
Friedman, Thomas B.

Publication type:

Article

Featured Cover.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 1, doi. 10.1111/cge.14528

By:

Ma, Liyuan;
Gao, Luying;
Hu, Ya;
Li, Xiaoyi;
Liu, Chunhao;
Ji, Jiang;
Shi, Xinlong;
Pan, Aonan;
An, Yuang;
Luo, Nengwen;
Xia, Yu;
Jiang, Yuxin

Publication type:

Article

Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 581, doi. 10.1111/cge.14511

By:

Engel, Camille;
Chevarin, Martin;
Piard, Juliette;
Abad, Marine;
Thomas, Quentin;
Carmignac, Virginie;
Duffourd, Yannis;
Lemesle‐Martin, Martine;
Tarris, Georges;
Thauvin‐Robinet, Christel;
Vabres, Pierre;
Faivre, Laurence;
Kuentz, Paul

Publication type:

Article

ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 470, doi. 10.1111/cge.14506

By:

Woods, Emily;
Holmes, Nicola;
Albaba, Shadi;
Evans, Iwan R.;
Balasubramanian, Meena

Publication type:

Article

Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 561, doi. 10.1111/cge.14486

By:

Gram, Stine Bjørn;
Jørgensen, Anne Sofie Fredberg;
Bygum, Anette;
Brusgaard, Klaus;
Ousager, Lilian Bomme

Publication type:

Article

Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 459, doi. 10.1111/cge.14503

By:

Mitz, Andrew R.;
Boccuto, Luigi;
Thurm, Audrey

Publication type:

Article

Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 567, doi. 10.1111/cge.14494

By:

Ma, Liyuan;
Gao, Luying;
Hu, Ya;
Li, Xiaoyi;
Liu, Chunhao;
Ji, Jiang;
Shi, Xinlong;
Pan, Aonan;
An, Yuang;
Luo, Nengwen;
Xia, Yu;
Jiang, Yuxin

Publication type:

Article

Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 533, doi. 10.1111/cge.14488

By:

Choi, Naye;
Kim, Hwa Young;
Ko, Jung Min

Publication type:

Article

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 523, doi. 10.1111/cge.14487

By:

Sudnawa, Khemika K.;
Garber, Alison;
Cohen, Ryan;
Calamia, Sean;
Kanner, Cara H.;
Montes, Jacqueline;
Bain, Jennifer M.;
Fee, Robert J.;
Chung, Wendy K.

Publication type:

Article

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 555, doi. 10.1111/cge.14485

By:

Malbos, Marlène;
Wakeling, Emma;
Gautier, Thierry;
Boespflug‐Tanguy, Odile;
Busby, Louise;
Taylor‐Miller, Tashunka;
Dudoignon, Benjamin;
Bokov, Plamen;
Govin, Jérôme;
Grisval, Margot;
Rega, Adélaïde;
Mourot De Rougemont, Marie‐Gabrielle;
Aubriot‐Lorton, Marie‐Hélène;
Darmency, Véronique;
Bensignor, Candace;
Houzel, Anne;
Huet, Frédéric;
Denommé‐Pichon, Anne‐Sophie;
Delanne, Julian;
Tran Mau‐Them, Frédéric

Publication type:

Article

The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 573, doi. 10.1111/cge.14496

By:

Shatokhina, Olga;
Bostanova, Fatima;
Bulakh, Maria;
Beresneva, Anastasia;
Ryzhkova, Oxana

Publication type:

Article

Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 549, doi. 10.1111/cge.14484

By:

Wang, Ping;
Liao, Hong;
Wang, Quyou;
Xie, Hanbing;
Xu, Bocheng;
Xiang, Qinqin;
Wang, He;
Yang, Mei;
Liu, Shanling

Publication type:

Article

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 543, doi. 10.1111/cge.14483

By:

Morita, Shuhei;
Nomura, Shunsuke;
Azuma, Kenko;
Chida‐Nagai, Ayako;
Furutani, Yoshiyuki;
Inai, Kei;
Inoue, Tatsuya;
Niimi, Yasunari;
Iizuka, Yuo;
Tsutsumi, Yoshiyuki;
Ishizaki, Reina;
Yamagishi, Hiroyuki;
Kawamata, Takakazu;
Akagawa, Hiroyuki

Publication type:

Article

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481

By:

Elkhateeb, Nour;
Issa, Mahmoud Y.;
Elbendary, Hasnaa M.;
Elnaggar, Walaa;
Ramadan, Areef;
Rafat, Karima;
Kamel, Mona;
Abdel‐Ghafar, Sherif F.;
Amer, Fawzia;
Hassaan, Hebatallah M.;
Trunzo, Roberta;
Pereira, Catarina;
Abdel‐Hamid, Mohamed S.;
D'Arco, Felice;
Bauer, Peter;
Bertoli‐Avella, Aida M.;
Girgis, Marian;
Gleeson, Joseph G.;
Zaki, Maha S.;
Selim, Laila

Publication type:

Article

Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 499, doi. 10.1111/cge.14480

By:

Wimmer, Moritz Claudius;
Brennenstuhl, Heiko;
Hirsch, Steffen;
Dötsch, Laura;
Unser, Samy;
Caro, Pilar;
Schaaf, Christian Patrick

Publication type:

Article

Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 488, doi. 10.1111/cge.14479

By:

You, Mikyoung;
Shamseldin, Hanan E.;
Fogle, Halle M.;
Rushing, Blake R.;
AlMalki, Reem H.;
Jaafar, Amal;
Hashem, Mais;
Abdulwahab, Firdous;
Abdel Rahman, Anas M.;
Krupenko, Natalia I.;
Alkuraya, Fowzan S.;
Krupenko, Sergey A.

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2024, v. 105, n. 5, p. 457, doi. 10.1111/cge.14370
Publication type:: Article