Works matching IS 23249269 AND DT 2024 AND VI 12 AND IP 11

Results: 19

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70044

By:

Masuko, Shinji;
Sato, Mitsuto;
Nakamura, Katsuya;
Hamanaka, Kohei;
Miyatake, Satoko;
Inaba, Yuji;
Kosho, Tomoki;
Matsumoto, Naomichi;
Sekijima, Yoshiki

Publication type:

Article

Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70043

By:

Loesch, Danuta Z.;
Chafota, Freddy;
Bui, Minh Q.;
Storey, Elsdon;
Atkinson, Anna;
Martin, Nicholas G.;
Gordon, Scott D.;
Rentería, Miguel E.;
Hagerman, Randi J.;
Tassone, Flora

Publication type:

Article

Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.

Published in:

2024

By:

Wang, Hui;
Zhang, Ting;
Xu, Yanming;
Fan, Wenhui

Publication type:

Case Study

Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70040

By:

Helm, Benjamin M.;
Helvaty, Lindsey R.;
Conboy, Erin;
Geddes, Gabrielle C.;
Graham, Brett H.;
Lah, Melissa;
Wetherill, Leah;
Landis, Benjamin J.;
Ware, Stephanie M.

Publication type:

Article

Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70038

By:

Zammitt, David;
Brotherhood, Emilie V.;
Fearn, Caroline;
Greaves, Caroline;
Hayes, Ollie;
Harding, Emma;
Lykourgos, Madalena;
Rohrer, Jonathan D.;
Stott, Josh

Publication type:

Article

Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70035

By:

Kuek, Wei Cheng David;
Chai, Chean Nee;
Tham, Wei Ming Jason;
Ng, Alvin Yu Jin;
Lau, Dilys Shi Ning;
Loo, Janice Yen Qi;
Van, Dan Thu;
Tan, Joanna Kia Min;
Lee, Chun Kiat;
Yan, Benedict;
Chan, Tim Hon Man

Publication type:

Article

Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70034

By:

Zhou, Wei;
Huang, Ting;
Li, Huizhong;
Gu, Maosheng

Publication type:

Article

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development.

Published in:

2024

By:

Brewer, Casey J.;
Coyan, Alyxis G.;
Smith, Nicki;
Jones, Brittany;
Smolarek, Teresa A.;
Liu, Jie

Publication type:

Case Study

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Published in:

2024

By:

Maiga, Alassane Baneye;
Pamanta, Ibrahim;
Bamba, Salia;
Cissé, Lassana;
Diarra, Salimata;
Touré, Sidi;
Yalcouyé, Abdoulaye;
Diallo, Seydou;
Diallo, Salimata;
Kané, Fousseyni;
Diallo, Seybou Hassane;
Ba, Hamidou Oumar;
Guinto, Cheick Oumar;
Fischbeck, Kenneth;
Landoure, Guida;
Cissé, Idrissa Ahmadou

Publication type:

Case Study

A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70031

By:

Esmaeilzadeh, Emran;
Biglari, Sajjad;
Mosallaei, Meysam;
Khorshid, Hamid Reza Khorram;
Vahidnezhad, Hassan;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70030

By:

Wang, Kaihan;
Hu, Tingting;
Tai, Mengmeng;
Shen, Yan;
Lin, Shaoyi;
Guo, Yongjuan;
Chen, Xiaomin

Publication type:

Article

Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.

Published in:

2024

By:

Chen, Ximin;
Zhao, Jing;
Li, Danhua;
Xi, Na;
Yi, Danying;
Yan, Mengjia;
Yin, Yan;
Wang, Xueyan

Publication type:

Case Study

Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease‐Specific Growth Chart.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70028

By:

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

Publication type:

Article

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70026

By:

Frederiksen, Jane Hübertz;
Birkedal, Ulf;
Bachmann, Sarah;
Eliesen, Elisabeth Victoria;
Rasmussen, Lene Juel;
Pedersen, Katja Venborg;
Al‐Zehhawi, Lana;
Boonen, Susanne E.;
Krogh, Lotte;
Rønlund, Karina;
Graversen, Lise;
Assenholt, Jannie;
Schmiegelow, Kjeld;
Wadt, Karin;
Gerdes, Anne‐Marie;
Hansen, Thomas v. O.

Publication type:

Article

Assessment of Myocardial Fibrosis in Marfan Syndrome Using Cardiac Magnetic Resonance Imaging.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70024

By:

Demolder, Anthony;
Devos, Dan;
De Backer, Julie;
Muiño‐Mosquera, Laura

Publication type:

Article

ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70021

By:

Li, Xin;
Bao, Jia;
Ai, Liya;
Yang, Fan‐Rui;
Yu, Bo;
Huang, Yan‐Ping;
Li, Na;
Ding, Wen‐Yuan;
Sun, Zhi‐Qiang;
Lv, Xin‐Xiang;
Han, Jian‐Wen

Publication type:

Article

A Novel Mutation of FOXC1 (P136L) in an Axenfeld–Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70008

By:

Yoshino, Yuta;
Iga, Jun‐ichi;
Ueno, Shu‐ichi

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2213
Publication type:: Article

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2123

By:

Karthikeyan, Priya;
Kumar, Shalini H.;
Khanna‐Gupta, Arati;
Bremadesam Raman, Lakshmi

Publication type:

Article