Works matching IS 2324-9269 AND VI 8 AND IP 7 AND DT 2020

Results: 41

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.764
Publication type:: Article

Clinical and genetic analysis of five Chinese patients with urea cycle disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1301

By:

Zheng, Zhenzhu;
Lin, Yiming;
Lin, Weihua;
Zhu, Lin;
Jiang, Mengyi;
Wang, Wenjun;
Fu, Qingliu

Publication type:

Article

Roles of HOTAIR in lung cancer susceptibility and prognosis.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1299

By:

Ren, Meng‐Meng;
Xu, Sen;
Wei, Yu‐Bo;
Yang, Juan‐Juan;
Yang, Ya‐Nan;
Sun, Shan‐Shan;
Li, You‐Jie;
Wang, Ping‐Yu;
Xie, Shu‐Yang

Publication type:

Article

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1297

By:

Xie, Xiaolei;
Tan, Weihe;
Li, Fuguang;
Carrano, Eric;
Ramirez, Paola;
DiAdamo, Autumn;
Grommisch, Brittany;
Amato, Katherine;
Chai, Hongyan;
Wen, Jiadi;
Li, Peining

Publication type:

Article

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1296

By:

Mowrey, Kate;
Koenig, Mary Kay;
Szabo, Charles A.;
Samuels, Joshua;
Mulligan, Shannon;
Pearson, Deborah A.;
Northrup, Hope

Publication type:

Article

β‐Thalassemia pathogenic variants in a cohort of children from the East African coast.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1294

By:

Macharia, Alexander W.;
Mochamah, George;
Uyoga, Sophie;
Ndila, Carolyne M.;
Nyutu, Gideon;
Tendwa, Metrine;
Nyatichi, Emily;
Makale, Johnstone;
Ware, Russell E.;
Williams, Thomas N.

Publication type:

Article

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1292

By:

Tabebi, Mouna;
Safi, Wajdi;
Felhi, Rahma;
Alila Fersi, Olfa;
Keskes, Leila;
Abid, Mohamed;
Mnif, Mouna;
Fakhfakh, Faiza

Publication type:

Article

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1289

By:

Ponzi, Emanuela;
Gentile, Mattia;
Agolini, Emanuele;
Matera, Emilia;
Palumbi, Roberto;
Buonadonna, Antonia Lucia;
Peschechera, Antonia;
Gabellone, Alessandra;
Antonucci, Maria Fatima;
Margari, Lucia

Publication type:

Article

A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1287

By:

Wu, Dong;
Wang, Yuxin;
Huang, Huijuan

Publication type:

Article

Children from nuclear families with bad parental relationship could develop tic symptoms.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1286

By:

Zhu, Pengcheng;
Wu, Min;
Huang, Pinxian;
Zhao, Xin;
Ji, Xiaoyi

Publication type:

Article

The pedigree analysis and prenatal diagnosis of Hong Kongαα Thalassemia and the sequence analysis of Hong Kongαα Allele.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1285

By:

Wang, Wenjuan;
Zheng, Haiqing;
Zeng, Dan;
Jiang, Linbin;
Yu, Donglan;
Yang, Yuzhong;
Feng, Qiao;
Xia, Yang;
Zhu, Chunjiang

Publication type:

Article

Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1284

By:

Ye, Yuanyuan;
Wei, Xiaoli;
Sha, Yanwei;
Li, Na;
Yan, Xiaohong;
Cheng, Ling;
Qiao, Duanrui;
Zhou, Weidong;
Wu, Rongfeng;
Liu, Qiaobin;
Li, Youzhu

Publication type:

Article

Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1282

By:

Wang, Tao;
Yang, Yuyan;
Dong, Qi;
Zhu, Huijuan;
Liu, Yuehua

Publication type:

Article

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1278

By:

Mio, Catia;
Fogolari, Federico;
Pezzoli, Laura;
D'Elia, Angela V.;
Iascone, Maria;
Damante, Giuseppe

Publication type:

Article

Patient perspectives on variant reclassification after cancer susceptibility testing.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1275

By:

Halverson, Colin M. E.;
Connors, Laurie M.;
Wessinger, Bronson C.;
Clayton, Ellen W.;
Wiesner, Georgia L.

Publication type:

Article

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1273

By:

Cho, Ahra;
Ragi, Sara D.;
Oh, Jin Kyun;
Lima de Carvalho, Jose Ronaldo;
Ryu, Joseph;
Yang, Ber‐Yuh;
Tsang, Stephen H.

Publication type:

Article

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS).

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1269

By:

Xu, Qianhua;
Zhu, Xiaoli;
Maqsood, Madiha;
Li, Wenqing;
Tong, Xianhong;
Kong, Shuai;
Wang, Fengsong;
Liu, Xiaoman;
Wei, Zhaolian;
Zhang, Zhiguo;
Zhu, Fuxi;
Cao, Yunxia;
Bao, Jianqiang

Publication type:

Article

Human closed and open apex premolar teeth express different toll‐like receptor.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1268

By:

Jafari, Reza;
Karamzadeh, Razieh;
Pesaran Hajabbas, Faezeh;
Sayyadizadeh, Fereshteh;
Chekini, Zahra;
Aghajanpour, Samaneh;
Shakeri, Leila;
Nazarimoghaddam, Kiumars;
Aflatoonian, Reza

Publication type:

Article

Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1265

By:

Liu, Yaobin;
Mapow, Beth

Publication type:

Article

Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1264

By:

Neng, Xiao;
Xiao, Mao;
Yuanlu, Chen;
Qinyan, Li;
Li, Shu;
Zhanyi, Song

Publication type:

Article

CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1261

By:

Wang, Yingjie;
Xiao, Ke;
Yang, Yuemei;
Wu, Zhihong;
Jin, Jin;
Qiu, Guixing;
Weng, Xisheng;
Zhao, Xiuli

Publication type:

Article

Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1260

By:

Lombardo, Barbara;
D'Argenio, Valeria;
Monda, Emanuele;
Vitale, Andrea;
Caiazza, Martina;
Sacchetti, Lucia;
Pastore, Lucio;
Limongelli, Giuseppe;
Frisso, Giulia;
Mazzaccara, Cristina

Publication type:

Article

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1259

By:

Huang, Di;
Thompson, Jennifer A.;
Charng, Jason;
Chelva, Enid;
McLenachan, Samuel;
Chen, Shang‐Chih;
Zhang, Dan;
McLaren, Terri L.;
Lamey, Tina M.;
Constable, Ian J.;
De Roach, John N.;
Aung‐Htut, May Thandar;
Adams, Abbie;
Fletcher, Sue;
Wilton, Steve D.;
Chen, Fred K.

Publication type:

Article

Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1258

By:

Arafat, Maram;
Zeadna, Atif;
Levitas, Eliahu;
Har Vardi, Iris;
Samueli, Benzion;
Shaco‐Levy, Ruth;
Dabsan, Salam;
Lunenfeld, Eitan;
Huleihel, Mahmoud;
Parvari, Ruti

Publication type:

Article

Clinical performance of DNA‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1256

By:

Panchalee, Tachjaree;
Poungvarin, Naravat;
Amornrit, Warisa;
Pooliam, Julaporn;
Taluengjit, Pattarawalai;
Wataganara, Tuangsit

Publication type:

Article

A novel prognostic model based on multi‐omics features predicts the prognosis of colon cancer patients.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1255

By:

Yang, Haojie;
Jin, Wei;
Liu, Hua;
Wang, Xiaoxue;
Wu, Jiong;
Gan, Dan;
Cui, Can;
Han, Yilin;
Han, Changpeng;
Wang, Zhenyi

Publication type:

Article

Shortened consent forms for genome‐wide sequencing: Parent and provider perspectives.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1254

By:

Hitchcock, Emma C.;
Study, CAUSES;
Elliott, Alison M.

Publication type:

Article

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1253

By:

Aly, Safwat A.;
Boyer, Kenneth M.;
Muller, Brie‐Ann A.;
Marini, Davide;
Jones, Carolyn H.;
Nguyen, Hoang H.

Publication type:

Article

Mutant COMP shapes growth and development of skull and facial structures in mice and humans.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1251

By:

Burger, Alexander;
Roosenboom, Jasmien;
Hossain, Mohammad;
Weinberg, Seth M.;
Hecht, Jacqueline T.;
Posey, Karen L.

Publication type:

Article

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1250

By:

Miao, Pu;
Tang, Siyang;
Ye, Jia;
Wang, Jianda;
Lou, Yuting;
Zhang, Bijun;
Xu, Xiaoxiao;
Chen, Xiaoquan;
Li, Yuezhou;
Feng, Jianhua

Publication type:

Article

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1240

By:

Khani, Marzieh;
Shamshiri, Hosein;
Fatehi, Farzad;
Rohani, Mohammad;
Haghi Ashtiani, Bahram;
Akhoundi, Fahimeh Haji;
Alavi, Afagh;
Moazzeni, Hamidreza;
Taheri, Hanieh;
Ghani, Mina Tolou;
Javanparast, Leila;
Hashemi, Seyyed Saleh;
Haji‐Seyed‐Javadi, Ramona;
Heidari, Matineh;
Nafissi, Shahriar;
Elahi, Elahe

Publication type:

Article

Candidate gene associations reveal sex‐specific Graves' disease risk alleles among Chinese Han populations.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1249

By:

Yan, Chen‐Yan;
Ma, Yu‐Ru;
Sun, Feng;
Zhang, Rui‐Jia;
Fang, Ya;
Zhang, Qian‐Yue;
Wu, Feng‐Yao;
Zhao, Shuang‐Xia;
Song, Huai‐Dong

Publication type:

Article

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1244

By:

Paolacci, Stefano;
Kiani, Aysha Karim;
Manara, Elena;
Beccari, Tommaso;
Ceccarini, Maria Rachele;
Stuppia, Liborio;
Chiurazzi, Pietro;
Dalla Ragione, Laura;
Bertelli, Matteo

Publication type:

Article

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1238

By:

Jedličková, Ivana;
Přistoupilová, Anna;
Nosková, Lenka;
Majer, Filip;
Stránecký, Viktor;
Hartmannová, Hana;
Hodaňová, Kateřina;
Trešlová, Helena;
Hýblová, Michaela;
Solár, Peter;
Minárik, Gabriel;
Giertlová, Mária;
Kmoch, Stanislav

Publication type:

Article

Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1231

By:

Cheng, Yujing;
Dai, Run;
Chen, Wanlu;
Li, Qi;
Zhang, Chan;
Yang, Tonghua

Publication type:

Article

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229

By:

Yeung, Kit San;
Yu, Florrie N. Y.;
Fung, Cheuk Wing;
Wong, Sheila;
Lee, Hencher H. C.;
Fung, Sharon T. H.;
Fung, Genevieve P. G.;
Leung, Kwok Yin;
Chung, Wai Hang;
Lee, Yun Ting;
Ng, Vivian K. S.;
Yu, Mullin H. C.;
Fung, Jasmine L. F.;
Tsang, Mandy H. Y.;
Chan, Kelvin Y. K.;
Chan, Sophelia H. S.;
Kan, Anita S. Y.;
Chung, Brian H. Y.

Publication type:

Article

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1228

By:

Kozina, Anastasiya A.;
Okuneva, Elena G.;
Baryshnikova, Natalia V.;
Kondakova, Olga B.;
Nikolaeva, Ekaterina A.;
Fedoniuk, Inessa D.;
Mikhailova, Svetlana V.;
Krasnenko, Anna Y.;
Stetsenko, Ivan F.;
Plotnikov, Nikolay A.;
Klimchuk, Olesia I.;
Popov, Yaroslav V.;
Surkova, Ekaterina I.;
Shatalov, Peter A.;
Rakitko, Alexander S.;
Ilinsky, Valery V.

Publication type:

Article

Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1218

By:

Li, Jian-Kang;
Li, Li‐Li;
Li, Wei;
Wang, Zi‐Wei;
Gao, Feng‐Juan;
Hu, Fang-Yuan;
Zhang, Sheng‐Hai;
Qu, Shou-Fang;
Huang, Jie;
Wang, Lu-Sheng;
Wu, Ji-Hong;
Chen, Fang

Publication type:

Article

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1215

By:

Lo Faro, Valeria;
Siddiqui, Sorath N.;
Khan, Muhammad I.;
Villanueva‐Mendoza, Cristina;
Cortés‐González, Vianney;
Jansonius, Nomdo;
Bergen, Arthur A. B.;
Micheal, Shazia

Publication type:

Article

Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1190

By:

Zhang, Han;
Li, Xiuli;
Ma, Chuanchuan;
Wang, Ke;
Zhou, Juan;
Chen, Jianhua;
Wang, Yonggang;
Shi, Yongyong

Publication type:

Article

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1106

By:

Sanchis‐Juan, Alba;
Hasenahuer, Marcia A.;
Baker, James A.;
McTague, Amy;
Barwick, Katy;
Kurian, Manju A.;
Duarte, Sofia T.;
Carss, Keren J.;
Thornton, Janet;
Raymond, F. Lucy

Publication type:

Article