Works in Molecular Genetics & Genomic Medicine, 2024, Vol 12, Issue 6

Results: 16

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2486

By:

Kraoua, Lilia;
Louati, Assaad;
Ahmed, Sarra Ben;
Abida, Nesrine;
Khemiri, Monia;
Menif, Khaled;
Mrad, Ridha;
Zaffran, Stéphane;
Jaouadi, Hager

Publication type:

Article

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.

Published in:

2024

By:

Xu, Hai;
Ma, Kai;
Gao, Yuye;
Song, Qijun;
Chen, Chaojin;
Xu, Xiao;
Peng, Jiaxi;
Sun, Yan

Publication type:

Case Study

Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2484

By:

Tang, Hai Xuan;
Lu, Y‐Thanh;
Ha, Thi Minh Thi;
Tran, Nhat‐Thang;
Dang, Doan Minh;
Ly, Son Xuan;
Bui, Thu Ha Thi;
Vo, Son Ta;
Thai, Minh Doan;
Nguyen, Vu Dinh;
Nguyen, Thong Van;
Dinh, Linh Thuy;
Luong, Lan‐Anh Thi;
Doan, Kim‐Phuong;
Nguyen, Kim Huong Thi;
Do, Thanh‐Thuy Thi;
Truong, Dinh‐Kiet;
Giang, Hoa;
Nguyen, Hoai‐Nghia;
Trinh, Thu Huong Nhut

Publication type:

Article

Retinitis pigmentosa with iris coloboma due to miR‐204 gene variant in a Chinese family.

Published in:

2024

By:

Lei, Zhang;
He‐Lin, Zhu;
Hai‐Yan, Wang;
Wei, Jia;
Ru, Wang;
Zhi‐Li, Cui;
Qian‐Feng, Wang

Publication type:

Case Study

Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2479

By:

Liang, Dong;
Lin, Ying;
Luo, Chunyu;
Li, Hang;
Hu, Ping;
Xu, Zhengfeng

Publication type:

Article

Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.

Published in:

2024

By:

Wang, Jing;
Yu, Huijun;
Zhang, Xiaoying;
Zhou, Xiuyun;
Tan, Ya;
Li, Zhi;
Gu, Ying;
Lin, Li

Publication type:

Case Study

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2476

By:

Gilani, Naser;
Bitarafan, Fatemeh;
Ozaslan, Mehmet;
Åsheim, Sarah;
Heidari, Morteza;
Garshasbi, Masoud

Publication type:

Article

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2475

By:

Mademont‐Soler, Irene;
Esteba‐Castillo, Susanna;
Jiménez‐Xifra, Aida;
Alemany, Berta;
Ribas‐Vidal, Núria;
Cutillas, Maria;
Coll, Mònica;
Pinsach, Mel·lina;
Pagans, Sara;
Alcalde, Mireia;
Viñas‐Jornet, Marina;
Montero‐Vale, Mercedes;
de Castro‐Miró, Marta;
Rodríguez, Jairo;
Armengol, Lluís;
Queralt, Xavier;
Obón, María

Publication type:

Article

A monoallelic UXS1 variant associated with short‐limbed short stature.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2472

By:

Rustad, Cecilie F.;
Backe, Paul Hoff;
Jin, Chunsheng;
Merckoll, Else;
Tveten, Kristian;
Maciej‐Hulme, Marissa Lucy;
Karlsson, Niclas;
Prescott, Trine;
Sand, Elise Sandås;
Woldseth, Berit;
Elgstøen, Katja Benedikte Prestø;
Holla, Øystein L.

Publication type:

Article

Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2470

By:

Matsumoto, Hideki;
Sasai, Hideo;
Kawamoto, Norio;
Katsuyama, Masato;
Minamiyama, Makoto;
Kuru, Satoshi;
Fukao, Toshiyuki;
Ohnishi, Hidenori

Publication type:

Article

A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2468

By:

Nguyen, Thy Ngoc;
Tran, Giang Son;
Hoang, Hai Duc;
Nguyen, Long Giang

Publication type:

Article

Social media use by patients with hypermobile Ehlers–Danlos syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2467

By:

Halverson, Colin M. E.;
Doyle, Tom A.;
Vershaw, Samantha

Publication type:

Article

Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2466

By:

In Lee, Jae;
Choi, Ja Young;
Yang, Shin‐Seung

Publication type:

Article

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2434

By:

Ma, Panpan;
Zhou, Bingbo;
Kang, Qichao;
Chen, Xue;
Tian, Xinyuan;
Hui, Ling;
Hao, Shengju;
Wu, Huiyan;
Zhang, Chuan

Publication type:

Article

No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2390

By:

Capelli, Irene;
Di Costanzo, Roberta;
Aiello, Valeria;
Lerario, Sarah;
De Giovanni, Paola;
Montevecchi, Marcello;
Cerretani, Davide;
Donadio, Vincenzo;
La Manna, Gaetano;
Mignani, Renzo

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2208
Publication type:: Article