Works matching IS 2324-9269 AND VI 10 AND IP 12 AND DT 2022

Results: 21

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2084

By:

Elias, Felipe Martins;
Nishi, Mirian Yumi;
Sircili, Maria Helena Palma;
Bastista, Rafael Loch;
Gomes, Nathalia Lisboa;
Ferrari, Maria Tereza Martins;
Costa, Elaine Maria Frade;
Denes, Francisco Tibor;
Mendonca, Berenice Bilharinho;
Domenice, Sorahia

Publication type:

Article

Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.

Published in:

2022

By:

Yuan, Gaopin;
Zhang, Xiaohong;
Liu, Shaofeng;
Chen, Tingli

Publication type:

Case Study

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2086

By:

Xu, Yan;
Zhao, Rui;
Wang, Min;
Wang, Xin‐hua;
Wang, Yi;
Li, Hao;
Ma, Yang‐yang;
Wu, Bing‐bing;
Zhou, Yuan‐feng

Publication type:

Article

Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2085

By:

Gall, Bryan J.;
Smart, Trevor B.;
Munch, Robin;
Kolluri, Supraja;
Tadepally, Hamsa;
Lim, Karen Phaik Har;
Demko, Zachary P.;
Benn, Peter;
Souter, Vivienne;
Sanapareddy, Nina;
Keen‐Kim, Dianne

Publication type:

Article

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2082

By:

Lee, Chen‐Yu;
Lo, Ming‐Yu;
Chen, You‐Mei;
Lin, Pei‐Hsuan;
Hsu, Chuan‐Jen;
Chen, Pei‐Lung;
Wu, Chen‐Chi;
Hsu, Jacob Shujui

Publication type:

Article

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2081

By:

Sadat Fatemi, Seyedeh Helia;
Eshraghi, Peyman;
Ghanei, Mahmoud;
Hamzehloei, Tayebeh

Publication type:

Article

Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2080

By:

Abida, Olfa;
Elloumi, Nesrine;
Bahloul, Emna;
Hachicha, Hend;
Sellami, Khadija;
Fakhfakh, Raouia;
Marzouk, Sameh;
Ben Ayed, Ikhlas;
Mahfoudh, Nadia;
Turki, Hamida;
Masmoudi, Hatem

Publication type:

Article

Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2078

By:

Dai, Siyu;
Liang, Yan;
Liu, Mohan;
Yang, Yanting;
Liu, Hongqian;
Shen, Ying

Publication type:

Article

A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2076

By:

Wang, Dan;
Chen, Xionghui;
Wen, Qiong;
Li, Zhijian;
Chen, Wei;
Chen, Wenfang;
Wang, Xin

Publication type:

Article

Nabais Sa‐de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.

Published in:

2022

By:

Hu, Wenjing;
Fang, Hongjun;
Peng, Yu;
Li, Li;
Liu, Shulei;
Liao, Hongmei;
Tang, Jingwen;
Yi, Jurong;
Liu, Qingqing;
Xu, Li;
Wu, Liwen

Publication type:

Case Study

Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2074

By:

Eltayeb, Majdolin Mohammed;
Ali, Mohamed M.;
Omar, Saeed M.;
Mohamed, Nouh Saad;
Adam, Ishag;
Hamdan, Hamdan Z.

Publication type:

Article

Scalable detection of technically challenging variants through modified next‐generation sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2072

By:

Rojahn, Susan;
Hambuch, Tina;
Adrian, Jessika;
Gafni, Erik;
Gileta, Alex;
Hatchell, Hannah;
Johnson, Britt;
Kallman, Ben;
Karfilis, Kate;
Kautzer, Curtis;
Kennemer, Michael;
Kirk, Lloyd;
Kvitek, Daniel;
Lettes, Jessica;
Macrae, Fenner;
Mendez, Fernando;
Paul, Joshua;
Pellegrino, Maurizio;
Preciado, Ronny;
Risinger, Jan

Publication type:

Article

Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2071

By:

Negri, Serena;
De Ponti, Elena;
Sina, Federica Paola;
Sala, Elena;
Dell'Oro, Cristina;
Roversi, Gaia;
Lazzarin, Sara;
Delle Marchette, Martina;
Inzoli, Alesssandra;
Toso, Claudia;
Fumagalli, Simona;
Campanella, Maria;
Kotsopoulos, Joanne;
Fruscio, Robert

Publication type:

Article

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2070

By:

Jingxin, Shan;
Shitong, Cheng

Publication type:

Article

Clinical phenotypes study of 231 children with Williams syndrome in China: A single‐center retrospective study.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2069

By:

Li, Fang‐fang;
Chen, Wei‐jun;
Yao, Dan;
Xu, Lin;
Shen, Ji‐yang;
Zeng, Yan;
Shi, Zhuo;
Ye, Xiao‐wei;
Kang, Dao‐huan;
Xu, Bin;
Shao, Jie;
Ji, Chai

Publication type:

Article

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.

Published in:

2022

By:

Luo, Sukun;
Hu, Yanqiu;
Xiong, Ping;
Tan, Li;
Zhao, Peiwei;
Huang, Yufeng;
Xiao, Cuiping;
Zhu, Hongmin;
He, Xuelian

Publication type:

Case Study

A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054

By:

Tinker, Rory J.;
Guess, Tiffany;
Rinker, David C.;
Sheehan, Jonathan H.;
Lubarsky, Daniel;
Porath, Binu;
Mosera, Mackenzie;
Mayo, Ping;
Solem, Emily;
Lee, Laura A.;
Sharam, Asha;
Brault, Jennifer

Publication type:

Article

Cohen syndrome in two patients from China.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2053

By:

Gong, Jiaoe;
Zhang, Lily;
Long, Yanwei;
Xiao, Bo;
Long, Hongyu

Publication type:

Article

Neurodevelopmental disorder with dystonia due to SOX6 mutations.

Published in:

2022

By:

Schneider, Susanne A.;
Mueller, Christine;
Biskup, Saskia;
Fietzek, Urban M.;
Schroeder, Andreas Sebastian

Publication type:

Case Study

A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.

Published in:

2022

By:

Li, Yue;
Nong, Tianying;
Li, Yiqiang;
Li, Xia;
Li, Zhaohui;
Lv, Hui;
Xu, Hongwen;
Li, Jingchun;
Zhu, Mingwei

Publication type:

Case Study

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.1723
Publication type:: Article