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

Results: 21

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
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
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