Works matching IS 14712350 AND DT 2020 AND VI 21

Results: 242

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-00996-1

By:

Hou, Ling;
Du, Yue

Publication type:

Article

Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

Published in:

2020

By:

Sobhani, Maryam;
Tabatabaiefar, Mohammad Amin;
Ghafouri-Fard, Soudeh;
Rajab, Asadollah;
Hojjat, Asal;
Kajbafzadeh, Abdol-Mohammad;
Noori-Daloii, Mohammad Reza

Publication type:

Correction Notice

An eight-mRNA signature outperforms the lncRNA-based signature in predicting prognosis of patients with glioblastoma.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0992-7

By:

Gong, Zhenyu;
Hong, Fan;
Wang, Hongxiang;
Zhang, Xu;
Chen, Juxiang

Publication type:

Article

Glutathione S-transferase M1 and T1 genes deletion polymorphisms and risk of developing essential hypertension: a case-control study in Burkina Faso population (West Africa).

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0990-9

By:

Sombié, Herman Karim;
Sorgho, Abel Pegdwendé;
Kologo, Jonas Koudougou;
Ouattara, Abdoul Karim;
Yaméogo, Sakinata;
Yonli, Albert Théophane;
Djigma, Florencia Wendkuuni;
Tchelougou, Daméhan;
Somda, Dogfounianalo;
Kiendrébéogo, Isabelle Touwendpoulimdé;
Bado, Prosper;
Nagalo, Bolni Marius;
Nagabila, Youssoufou;
Adoko, Enagnon Tiémoko Herman Donald;
Zabsonré, Patrice;
Millogo, Hassanata;
Simporé, Jacques

Publication type:

Article

ABCG2 rs2231142 variant in hyperuricemia is modified by SLC2A9 and SLC22A12 polymorphisms and cardiovascular risk factors in an elderly community-dwelling population.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0987-4

By:

Liu, Jia;
Yang, Wei;
Li, Yun;
Wei, Zhanyun;
Dan, Xiaojuan

Publication type:

Article

SLC1A3 C3590T but not BDNF G196A is a predisposition factor for stress as well as depression, in an adolescent eastern Indian population.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0993-6

By:

Ghosh, Madhumita;
Ali, Akhtar;
Joshi, Shobhna;
Srivastava, Adya Shankar;
Tapadia, Madhu G.

Publication type:

Article

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0991-8

By:

Balsamo, Flávia;
Cardoso, Pedro Augusto Soffner;
do Amaral Junior, Sergio Aparecido;
Theodoro, Therésè Rachell;
de Sousa Gehrke, Flavia;
da Silva Pinhal, Maria Aparecida;
Bianco, Bianca;
Waisberg, Jaques

Publication type:

Article

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0988-3

By:

Ruan, Wen-Cong;
Wang, Jia;
Yu, Yong-Lin;
Che, Yue-Ping;
Ding, Li;
Li, Chen-Xi;
Wang, Xiao-Dong;
Li, Hai-Feng

Publication type:

Article

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0986-5

By:

Athota, Jeevana Praharsha;
Bhat, Meenakshi;
Nampoothiri, Sheela;
Gowrishankar, Kalpana;
Narayanachar, Sanjeeva Ghanti;
Puttamallesh, Vinuth;
Farooque, Mohammed Oomer;
Shetty, Swathi

Publication type:

Article

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0989-2

By:

Zhang, Lin;
Cao, Zheng;
Feng, Fan;
Xu, Ya-Nan;
Li, Lin;
Gao, Hong

Publication type:

Article

Silencing of microRNA-210 inhibits the progression of liver cancer and hepatitis B virus-associated liver cancer via targeting EGR3.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0974-9

By:

Li, Xiaojie;
Yuan, Mei;
Song, Lu;
Wang, Yan

Publication type:

Article

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0983-8

By:

Ouchkat, Fatima;
Regragui, Wafaa;
Smaili, Imane;
Naciri Darai, Hajar;
Bouslam, Naima;
Rahmani, Mounia;
Melhaoui, Adyl;
Arkha, Yasser;
El Fahime, Elmostafa;
Bouhouche, Ahmed

Publication type:

Article

Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0984-7

By:

Grosse, Gerrit M.;
Bauer, Christine;
Kopp, Bruno;
Schrader, Christoph;
Osmanovic, Alma

Publication type:

Article

Identification of differentially expressed miRNAs and mRNAs in synovial of osteoarthritis via RNA-sequencing.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0978-5

By:

Zhou, Yu;
Wang, Zhicong;
Chen, Xi;
Zhang, Jianjun;
Yang, Ling;
Liu, Shuping;
Liu, Yuehong

Publication type:

Article

Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0982-9

By:

Huang, Lifan;
Chu, Yan;
Huang, Xiaoqin;
Ma, Shaohui;
Lin, Keqin;
Huang, Kai;
Sun, Hao;
Yang, Zhaoqing

Publication type:

Article

Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0981-x

By:

Jiang, Fan;
Zuo, Liandong;
Li, Dongzhi;
Li, Jian;
Tang, Xuewei;
Chen, Guilan;
Zhou, Jianying;
Lu, Hang;
Liao, Can

Publication type:

Article

Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0976-7

By:

Liu, Fang;
Calhoun, Barbara;
Alam, Md. Suhail;
Sun, Miaomiao;
Wang, Xuechun;
Zhang, Chao;
Haldar, Kasturi;
Lu, Xin

Publication type:

Article

Correction to: Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population.

Published in:

2020

By:

Razak, S.;
Bibi, N.;
Dar, J. A.;
Afsar, T.;
Almajwal, A.;
Parveen, Z.;
Jahan, S.

Publication type:

Correction Notice

Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0977-6

By:

Singh, Abhishek Narain;
Gasman, Bili

Publication type:

Article

Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis.

Published in:

2020

By:

Li, Yanxia;
Liu, Luyang;
Huang, Yubei;
Zheng, Hong;
Li, Lian

Publication type:

Literature Review

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0973-x

By:

Iqbal, Nida S.;
Jascur, Thomas A.;
Harrison, Steven M.;
Edwards, Angelena B.;
Smith, Luke T.;
Choi, Erin S.;
Arevalo, Michelle K.;
Chen, Catherine;
Zhang, Shaohua;
Kern, Adam J.;
Scheuerle, Angela E.;
Sanchez, Emma J.;
Xing, Chao;
Baker, Linda A.

Publication type:

Article

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0972-y

By:

Honjo, Rachel Sayuri;
Vaca, Evelyn Cristina Nuñez;
Leal, Gabriela Nunes;
Abellan, Deipara Monteiro;
Ikari, Nana Miura;
Jatene, Marcelo Biscegli;
Martins, Ana Maria;
Kim, Chong Ae

Publication type:

Article

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0971-z

By:

Venugopal, Parvathy;
Gagliardi, Lucia;
Forsyth, Cecily;
Feng, Jinghua;
Phillips, Kerry;
Babic, Milena;
Poplawski, Nicola K.;
Rienhoff, Hugh Young;
Schreiber, Andreas W.;
Hahn, Christopher N.;
Brown, Anna L.;
Scott, Hamish S.

Publication type:

Article

Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart disease in Chinese population.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0965-x

By:

Hua, Lei;
Yuan, Jin-Xia;
He, Shu;
Zhao, Chen-Hui;
Jia, Qiao-Wei;
Zhang, Jing;
An, Feng-Hui;
Chen, Zhao-Hong;
Li, Li-Hua;
Wang, Lian-Sheng;
Ma, Wen-Zhu;
Xu, Guang-Xu;
Jia, En-Zhi

Publication type:

Article

Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0970-0

By:

Babakhanzadeh, Emad;
Khodadadian, Ali;
Rostami, Saadi;
Alipourfard, Iraj;
Aghaei, Mohsen;
Nazari, Majid;
Hosseinnia, Mehdi;
Mehrjardi, Mohammad Yahya Vahidi;
Jamshidi, Yalda;
Ghasemi, Nasrin

Publication type:

Article

Salivary epigenetic biomarkers as predictors of emerging childhood obesity.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0968-7

By:

Rushing, Amanda;
Sommer, Evan C.;
Zhao, Shilin;
Po'e, Eli K.;
Barkin, Shari L.

Publication type:

Article

Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0969-6

By:

Fakhraie, Ghasem;
Parvini, Farshid;
Ghanavi, Jalaledin;
Saif, Shima;
Farnia, Poopak

Publication type:

Article

In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0961-1

By:

Branavan, Umayal;
Wijesundera, Sulochana;
Chandrasekaran, Vishvanath;
Arambepola, Carukshi;
Wijeyaratne, Chandrika

Publication type:

Article

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0957-x

By:

Qian, Yanyan;
Wu, Bingbing;
Lu, Yulan;
Zhou, Wenhao;
Wang, Sujuan;
Wang, Huijun

Publication type:

Article

Association of tumor necrosis factor-α gene polymorphisms and coronary artery disease susceptibility: a systematic review and meta-analysis.

Published in:

2020

By:

Huang, Rui;
Zhao, Su-Rui;
Li, Ya;
Liu, Fang;
Gong, Yue;
Xing, Jun;
Xu, Ze-Sheng

Publication type:

Literature Review

Serum miR-101-3p combined with pepsinogen contributes to the early diagnosis of gastric cancer.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0967-8

By:

Zeng, Weiwei;
Zhang, Shuxiang;
Yang, Lei;
Wei, Wenchao;
Gao, Jie;
Guo, Ni;
Wu, Fengting

Publication type:

Article

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Published in:

2020

By:

Wang, Dan-Dan;
Gao, Feng-Juan;
Hu, Fang-Yuan;
Zhang, Sheng-Hai;
Xu, Ping;
Wu, Ji-Hong

Publication type:

Literature Review

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0966-9

By:

Hadj Amor, Meriam;
Dimassi, Sarra;
Taj, Amel;
Slimani, Wafa;
Hannachi, Hanene;
Mlika, Adnene;
Ben Helel, Khaled;
Saad, Ali;
Mougou-Zerelli, Soumaya

Publication type:

Article

Analysis of association between common variants of uncoupling proteins genes and diabetic retinopathy in a Chinese population.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0956-y

By:

Jin, Peiyao;
Li, Zhiqiang;
Xu, Xian;
He, Jiangnan;
Chen, Jianhua;
Xu, Xun;
Du, Xuan;
Bai, Xuelin;
Zhang, Bo;
He, Xiangui;
Lu, Lina;
Zhu, Jianfeng;
Shi, Yongyong;
Zou, Haidong

Publication type:

Article

A rare combination of MODY5 and duodenal atresia in a patient: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0954-0

By:

Du, Tao;
Zeng, Nan;
Wen, Xiaofang;
Zhu, Peizhuang;
Li, Wangen

Publication type:

Article

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0953-1

By:

Oluwole, Oluwafemi G.;
Kuivaniemi, Helena;
Abrahams, Shameemah;
Haylett, William L.;
Vorster, Alvera A.;
van Heerden, Carel J.;
Kenyon, Colin P.;
Tabb, David L.;
Fawale, Michael B.;
Sunmonu, Taofiki A.;
Ajose, Abiodun;
Olaogun, Matthew O.;
Rossouw, Anastasia C.;
van Hillegondsberg, Ludo S.;
Carr, Jonathan;
Ross, Owen A.;
Komolafe, Morenikeji A.;
Tromp, Gerard;
Bardien, Soraya

Publication type:

Article

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0959-8

By:

Habibzadeh, Parham;
Tabatabaei, Zahra;
Farazi Fard, Mohammad Ali;
Jamali, Laila;
Hafizi, Aazam;
Nikuei, Pooneh;
Salarian, Leila;
Nasr Esfahani, Mohammad Hossein;
Anvar, Zahra;
Faghihi, Mohammad Ali

Publication type:

Article

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0964-y

By:

Afzal, Sibtain;
Ramzan, Khushnooda;
Ullah, Sajjad;
Wakil, Salma M.;
Jamal, Arshad;
Basit, Sulman;
Waqar, Ahmed Bilal

Publication type:

Article

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0960-2

By:

Caffarelli, Carla;
Gonnelli, Stefano;
Pitinca, Maria Dea Tomai;
Camarri, Silvia;
Al Refaie, Antonella;
Hayek, Joussef;
Nuti, Ranuccio

Publication type:

Article

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0955-z

By:

Heliö, Krista;
Kangas-Kontio, Tiia;
Weckström, Sini;
Vanninen, Sari U. M.;
Aalto-Setälä, Katriina;
Alastalo, Tero-Pekka;
Myllykangas, Samuel;
Heliö, Tiina M.;
Koskenvuo, Juha W.

Publication type:

Article

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0962-0

By:

Bui, Thi Phuong Hoa;
Nguyen, Ngoc Tu;
Ngo, Van Doan;
Nguyen, Hoai-Nghia;
Ly, Thi Thanh Ha;
Do, Huy Duong;
Huynh, Minh-Tuan

Publication type:

Article

Relationship between vascular endothelial growth factor -2578C > a gene polymorphism and lung cancer risk: a meta-analysis.

Published in:

2020

By:

Zhao, Hui-liu;
Yu, Jia-hua;
Huang, Ling-sha;
Li, Pei-zhang;
Lao, Ming;
Zhu, Bo;
Ou, Chao

Publication type:

Literature Review

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0951-3

By:

Ye, Panpan;
Xu, Jia;
Luo, Yueqiu;
Su, Zhitao;
Yao, Ke

Publication type:

Article

A case report of Proteus syndrome (PS).

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0949-x

By:

Zeng, Xiaoyun;
Wen, Xiaoming;
Liang, Xinxin;
Wang, Lina;
Xu, Lingling

Publication type:

Article

Association analysis between the tag single nucleotide polymorphisms of DENND1A and the risk of polycystic ovary syndrome in Chinese Han women.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-019-0945-1

By:

Zhu, Ya-nan;
Zhang, Yi-ting;
Liu, Qin;
Shen, Shan-mei;
Zou, Xiang;
Cao, Yun-xia;
Wang, Wen-jun;
Yi, Long;
Gao, Qian;
Yang, Wei-dong;
Wang, Yong

Publication type:

Article

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0950-4

By:

Sobhani, Maryam;
Tabatabaiefar, Mohammad Amin;
Ghafouri-Fard, Soudeh;
Rajab, Asadollah;
Hojat, Asal;
Kajbafzadeh, Abdol-Mohammad;
Noori-Daloii, Mohammad Reza

Publication type:

Article

Assessment of cellular cobalamin metabolism in Gaucher disease.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0947-z

By:

Basgalupp, Suelen Porto;
Siebert, Marina;
Ferreira, Charles;
Behringer, Sidney;
Spiekerkoetter, Ute;
Hannibal, Luciana;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

MicroRNA-19b-3p promotes cell proliferation and osteogenic differentiation of BMSCs by interacting with lncRNA H19.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0948-y

By:

Xiaoling, Gan;
Shuaibin, Liu;
Kailu, Liang

Publication type:

Article

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-019-0946-0

By:

Poisson, Alice;
Chatron, Nicolas;
Labalme, Audrey;
Fourneret, Pierre;
Ville, Dorothée;
Mathieu, Marie Laure;
Sanlaville, Damien;
Demily, Caroline;
Lesca, Gaëtan

Publication type:

Article

Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-019-0944-2

By:

Deng, Jun;
Li, Dan;
Mei, Heng;
Tang, Liang;
Wang, Hua-fang;
Hu, Yu

Publication type:

Article