Works matching IS 23249269 AND DT 2025 AND VI 13 AND IP 2

Results: 25

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70082

By:

Su, Jiasun;
Zhang, Shujie;
Li, Wei;
Wei, Yuan;
Lin, Fei;
Zhou, Chaofan;
Tang, Xianglian;
Lan, Yueyun;
Huang, Minpan;
Zhang, Qiang;
Yi, Shang;
Yang, Qi;
Yi, Sheng;
Zhou, Xunzhao;
Qin, Zailong;
Huang, Peng

Publication type:

Article

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70081

By:

Kalayinia, Samira;
Hesami, Hamed;
Badv, Reza Shervin;
Rabbani, Maryam;
Rezaei, Zahra;
Hosseinkhani, Zohreh;
Nikbakht, Sedighe;
Sharifi, Ameneh;
Akbari, Bahman;
Mirab Samiee, Siamak;
Mahdieh, Nejat

Publication type:

Article

Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70080

By:

Mohseni, Marzieh;
Ashrafi, Farzane Zare;
Abbaspour Rodbaneh, Ehsan;
Mokabber, Haleh;
Vafaei, Maryam;
Nobakht, Ramiz;
Keshavarzi, Fatemeh;
Arzhangi, Sanaz;
Arish, Sara;
Azar, Zahra Nematollahi;
Kahrizi, Kimia;
Najmabadi, Hossein;
Davarnia, Behzad

Publication type:

Article

Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70078

By:

Del Greco, Christina;
Kuo, Molly E.;
Smith, Desiree E. C.;
Mendes, Marisa I.;
Salamons, Gajja S.;
Nemcovic, Marek;
Kodrikova, Rebeka;
Sestak, Sergej;
Stancheva, Malina;
Antonellis, Anthony

Publication type:

Article

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70077

By:

Lu, JiaoJiao;
Zheng, Xian;
Yang, Jing;
Dong, WenXu;
Cao, LuoYuan;
Zeng, Xiaomei;
Wu, Qinjuan;
Chen, Xunyan;
Fu, XianGuo

Publication type:

Article

The Genetics of 241 Fetuses With Talipes Equinovarus: A 8‐Year Monocentric Retrospective Study.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70076

By:

Pan, Pingshan;
Huang, Dongbing;
Wei, Jiangxuan;
He, Wei;
Huang, Peng;
Yi, Sheng;
Huang, Jing;
Meng, Dahua;
Tan, Shuyin;
Li, Xinyan;
Wei, Hongwei;
Wang, Linlin

Publication type:

Article

The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70074

By:

Gao, Hui;
Cao, Xi‐Xia;
Hua, Hua;
Zhu, Hui

Publication type:

Article

Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70073

By:

Ramírez, R. Bermejo;
Gascó, N. Villena;
Palmero, L. Ruiz;
Bueno, G. A. Ribes;
Yamanaka, E. Seiti;
Andújar, J. D. Arroyo

Publication type:

Article

Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome.

Published in:

2025

By:

Dainelli, Alice;
Nosrati, Mohammad Sadegh Shams;
Romano, Ferruccio;
Vercellino, Fabiana;
Mancardi, Maria Margherita;
Torella, Annalaura;
Nigro, Vincenzo;
Capra, Valeria;
Zara, Federico;
Scala, Marcello

Publication type:

Case Study

Correction to "Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing".

Published in:: 2025
Publication type:: Correction Notice

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.

Published in:

2025

By:

de la Peña, Mar Jiménez;
López‐Martín, Sara;
Fernández‐Mayoralas, Daniel Martín;
Fernández‐Perrone, Ana Laura;
Jiménez de Domingo, Ana;
Tirado, Pilar;
Calleja‐Pérez, Beatriz;
Álvarez, Sara;
Albert, Jacobo;
Fernández‐Jaén, Alberto

Publication type:

Case Study

The First Evidence for the Role of ACVR2A Gene Fetal Genotype in Preeclampsia Susceptibility.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70069

By:

Honarpour, Asal;
Majd, Ahmad;
Sadeghi, Hossein;
Jamaldini, Sayedhamid;
Rahimi, Maryam;
Kazemzadeh, Paniz;
Mirfakhraie, Reza

Publication type:

Article

A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70068

By:

Scarpato, Margherita;
Testa, Francesco;
Nesti, Anna;
Zeuli, Roberta;
Boccia, Rosa;
Auletta, Gennaro;
Banfi, Sandro;
Simonelli, Francesca;
Karali, Marianthi

Publication type:

Article

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy.

Published in:

2025

By:

Tavasoli, Ali Reza;
Kaki, Arastoo;
Ganji, Maedeh;
Kahani, Seyyed Mohammad;
Radmehr, Foozhan;
Mohammadi, Pouria;
Heidari, Morteza;
Ashrafi, Mahmoud Reza;
Lewis, Kara S.

Publication type:

Case Study

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70066

By:

Xie, Wuming;
Liao, Baoqiong;
Shuai, Mei;
Liu, Rutian;
Hong, Min;
He, Shuwen

Publication type:

Article

Late‐Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

Published in:

2025

By:

Sun, Yujun;
Zheng, Jiayuan;
He, Lei;
Li, Xiaojuan;
Liu, Wenzhou;
Wu, Jionglin;
Li, Jiajie;
Zhou, Taolue;
Zeng, Gang;
Song, Weidong;
Chen, Yanbo

Publication type:

Case Study

Saliva Sample‐Based Non‐Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70064

By:

Xu, Chenyang;
Xiang, Yanbao;
Lin, Xiaoling;
Ma, Qifan;
Xu, Yunzhi;
Li, Huanzheng;
Tang, Shaohua;
Xu, Xueqin

Publication type:

Article

Identification and Validation of Biomarkers in Metabolic Dysfunction‐Associated Steatohepatitis Using Machine Learning and Bioinformatics.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70063

By:

Zhang, Yu‐Ying;
Li, Jin‐E;
Zeng, Hai‐Xia;
Liu, Shuang;
Luo, Yun‐Fei;
Yu, Peng;
Liu, Jian‐Ping

Publication type:

Article

Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome.

Published in:

2025

By:

Samuels, Megan;
Shields, Kathleen;
Hillman, Paul;
Farach, Laura

Publication type:

Case Study

Broadening the Phenotype Spectrum of MECP2 Variants in Men.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70056

By:

Lötjönen, Johannes;
Kurra, Venla;
Laivuori, Hannele;
Bjelogrlić, Nina

Publication type:

Article

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70055

By:

Ma, Meijiao;
Ma, Jinhai;
Lian, Yuanyuan;
Wu, Xueli;
Wang, Wenming;
Rong, Weining;
Sheng, Xunlun

Publication type:

Article

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70053

By:

Chen, Dan;
Zhang, Li;
Rao, Jing;
Zhou, Yan;
Dai, Lujun;
Huang, Songsong;
Yang, Chunxia;
Bian, Qiuhan;
Zhang, Tao;
Yang, Xiaoyan

Publication type:

Article

Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70045

By:

Onnekink, A. M.;
Klatte, D. C. F.;
van Hooft, J. E.;
van den Berg, S. H.;
van der Zwaan, S. M. S.;
van Doorn, R.;
Hinnen, S. C. H.;
Potjer, T. P.;
Bleiker, E. M. A.;
van Leerdam, M. E.

Publication type:

Article

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70011

By:

Sun, He‐nan;
Du, Kai‐li;
Sun, Yan;
Liu, Cong;
Xue, Jin‐hui;
Wang, Xin‐xin;
liu, Ye;
Yu, Hui‐hui;
Ge, Jia‐yuan;
Rong, Jia;
Wang, Di;
Ren, Yue;
Pang, Ji‐jing;
Li, Jian‐Kang;
Wang, Zhuo‐Shi

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.2455
Publication type:: Article