Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 8

Results: 21

Cardiopulmonary assessment of patients diagnosed with Gaucher's disease type I.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1757

By:

Bjelobrk, Marija;
Lakocevic, Milan;
Damjanovic, Svetozar;
Petakov, Milan;
Petrovic, Milan;
Bosnic, Zoran;
Arena, Ross;
Popovic, Dejana

Publication type:

Article

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1756

By:

Zeevi, David A.;
Chung, Wendy K.;
Levi, Chaim;
Scher, Sholem Y.;
Bringer, Rachel;
Kahan, Yael;
Muallem, Hagit;
Benel, Rinat;
Hirsch, Yoel;
Weiden, Tzvi;
Ekstein, Ahron;
Ekstein, Josef

Publication type:

Article

Interstitial duplication of 20q11.22q13.11: A case report and review of literature.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1755

By:

Goetzinger, Logan;
Starks, Rachel D.;
Dillahunt, Kyle;
Major, Heather;
Nagy, Jaime M.;
Sidhu, Alpa

Publication type:

Article

SLC10A2 deficiency‐induced congenital chronic bile acid diarrhea and stunting.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1740

By:

Qie, Di;
Zhang, Yulin;
Gong, Xue;
He, Yunru;
Qiao, Lina;
Lu, Guoyan;
Li, Yifei

Publication type:

Article

Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1750

By:

Liu, Jing;
Liu, Qin;
Yang, Shuting;
Ma, Na;
Pang, Jialun;
Peng, Ying;
Xi, Hui;
Jia, Zhengjun;
Luo, Yingchun;
Jiang, Meiping;
Teng, Yanling;
Yu, Wenxian;
Li, Zhuo;
Wang, Hua

Publication type:

Article

The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1747

By:

Zhang, Xianpeng;
Ye, Liping;
Li, Xin;
Chen, Ying;
Jiang, Yaqiong;
Li, Wenhui;
Wen, Youfeng

Publication type:

Article

STAT3 polymorphisms in North Africa and its implication in breast cancer.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1744

By:

Ziadi, Wafa;
Boussetta, Sami;
Elkamel, Sarra;
Pakstis, Andrew J.;
Kidd, Kenneth K.;
Medimegh, Imen;
Ben Ammar Elgaaied, Amel;
Cherni, Lotfi

Publication type:

Article

A novel TLE6 mutation, c.541+1G>A, identified using whole‐exome sequencing in a Chinese family with female infertility.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1743

By:

Mao, Bin;
Jia, Xueling;
Liu, Hongfang;
Xu, Xiaojuan;
Zhao, Xiaodong;
Yuan, Yue;
Li, Hongxing;
Ma, Xiaoling;
Zhang, Lili

Publication type:

Article

Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1741

By:

Qiao, Lingyan;
Ge, Juan;
Li, Cheng;
Liu, Yusheng;
Hu, Conghui;
Hu, Sicui;
Li, Wenjie;
Li, Tang

Publication type:

Article

Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1748

By:

Ma, Thi Huyen Thuong;
Luong, Thi Lan Anh;
Hoang, Thu Lan;
Nguyen, Thi Thanh Hoa;
Vu, Thi Ha;
Tran, Van Khoa;
Nguyen, Duy Bac;
Trieu, Tien Sang;
Nguyen, Hai Ha;
Nong, Van Hai;
Nguyen, Dang Ton

Publication type:

Article

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1739

By:

Kaymakcalan, Hande;
Kaya, İlyas;
Cevher Binici, Nagihan;
Nikerel, Emrah;
Özbaran, Burcu;
Görkem Aksoy, Mehmet;
Erbilgin, Seda;
Özyurt, Gonca;
Jahan, Noor;
Çelik, Didem;
Yararbaş, Kanay;
Yalçınkaya, Leyla;
Köse, Sezen;
Durak, Sibel;
Ercan‐Sencicek, Adife Gulhan

Publication type:

Article

Individual variability in human urinary metabolites identifies age‐related, body mass index‐related, and sex‐related biomarkers.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1738

By:

Wang, Tianling;
Tang, Lei;
Lin, Ruili;
He, Dian;
Wu, Yanqing;
Zhang, Yang;
Yang, Pingrong;
He, Junquan

Publication type:

Article

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1734

By:

Tian, Yongan;
Xu, Hongen;
Liu, Danhua;
Zhang, Juanli;
Yang, Zengguang;
Zhang, Sen;
Liu, Huanfei;
Li, Ruijun;
Tian, Yingtao;
Zeng, Beiping;
Li, Tong;
Lin, Qianyu;
Wang, Haili;
Li, Xiaohua;
Lu, Wei;
Shi, Ying;
Zhang, Yan;
Zhang, Hui;
Jiang, Chang;
Xu, Ying

Publication type:

Article

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1733

By:

Cordisco, Adalgisa;
Pelo, Elisabetta;
Di Tommaso, Mariarosaria;
Biagiotti, Roberto

Publication type:

Article

CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1732

By:

Phan, Anh Nguyen Lien;
Pham, Thuy Thi Thanh;
Phan, Xinh Thi;
Huynh, Nghia;
Nguyen, Tuan Minh;
Cao, Cuc Tran Thu;
Nguyen, Duong Thuy;
Luong, Khanh Thi Xuan;
Nguyen, Tam Thi Minh;
Tran, Anh Ngoc Kim;
Pham, Linh Thi Truc;
Nguyen, Vy Vuong Thao;
Swagemakers, Sigrid;
Bui, Chi‐Bao;
Van Hagen, Petrus Martinus

Publication type:

Article

Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1731

By:

Tang, Hai‐Yan;
Xie, Fen;
Dai, Ru‐Chun;
Shi, Xiao‐Liu

Publication type:

Article

Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1730

By:

Zhang, Tao;
Bian, Qianqian;
Chen, Yanchun;
Wang, Xiaolin;
Yu, Shaowei;
Liu, Shunhua;
Ji, Ping;
Li, Ling;
Shrestha, Mandakini;
Dong, Shujun;
Guo, Rong;
Zhang, Hong

Publication type:

Article

A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1729

By:

Zhao, Na;
Wu, Huizhi;
Li, Ping;
Wang, Yuxian;
Dong, Li;
Xiao, Han;
Wu, Changxin

Publication type:

Article

Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1728

By:

Ma, YanYan;
Zhang, YaoGang;
Zhang, Tao;
Man, Zhu;
Su, XiaoMing;
Hao, ShuJing;
Wang, TianZe

Publication type:

Article

Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan‐cancer analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1697

By:

Shen, Dong;
Zhang, Junling;
Yuan, Kai;
Zhao, Jing;
Zhao, Zhengyi;
Cui, Longgang;
Zhang, Yuzi;
Wang, Guoqiang;
Cai, Shangli;
Bai, Yuezong;
Li, Wei;
Huang, Xiang

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1330
Publication type:: Article