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Unexpected phenotype in a frameshift mutation of PTCH1.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.987
By:
- Beltrami, Benedetta;
- Prada, Elisabetta;
- Tolva, Gianluca;
- Scuvera, Giulietta;
- Silipigni, Rosamaria;
- Graziani, Daniela;
- Bulfamante, Gaetano;
- Gervasini, Cristina;
- Marchisio, Paola;
- Milani, Donatella
Publication type:
Article
ALU transposition induces familial hypertrophic cardiomyopathy.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.951
By:
- Nfonsam, Landry;
- Huang, Lijia;
- Carson, Nancy;
- McGowan‐Jordan, Jean;
- Beaulieu Bergeron, Melanie;
- Goobie, Sharan;
- Conacher, Susan;
- McCarty, David;
- Benson, Lee;
- Hewson, Stacy;
- Zahavich, Laura;
- Sinclair‐Bourque, Elizabeth;
- Smith, Amanda;
- Potter, Ryan;
- Ghani, Mahdi;
- Bronicki, Lucas;
- Jarinova, Olga
Publication type:
Article
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1065
By:
- Luo, Wen‐Jiao;
- Wei, Qiao;
- Dong, Hai‐Lin;
- Yan, Yang‐Tian;
- Chen, Mei‐Jiao;
- Li, Hong‐Fu
Publication type:
Article
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.992
By:
- Meloche, Jolyane;
- Brunet, Vanessa;
- Gagnon, Pierre‐Alexandre;
- Lavoie, Marie‐Ève;
- Bouchard, Jean‐Benoît;
- Nadaf, Javad;
- Majewski, Jacek;
- Morin, Charles;
- Laprise, Catherine
Publication type:
Article
Inhibitory effect of alpinetin on IL‐6 expression by promoting cytosine methylation in CpG islands in the IL‐6 promoter region.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.993
By:
- Hu, Ke;
- Li, Yuxian;
- Liang, Minghua;
- Liu, Lijing;
- Chen, Yuefu;
- Huang, Minjiang;
- Tan, Bifeng;
- Luo, Yingquan;
- Yin, Huiming
Publication type:
Article
Investigation of the STOX1 polymorphism on lumbar disc herniation.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1038
By:
- Yang, Xuejun;
- Li, Feng;
- Xin, Daqi;
- Huang, Zhi;
- Xue, Jianmin;
- Wang, Bo;
- Da, Yifeng;
- Xing, Wenhua;
- Zhu, Yong
Publication type:
Article
Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1034
By:
- Song, Xiao;
- Wang, Xueyan;
- Ding, Li;
- He, Dan;
- Sun, Jin;
- Xi, Na;
- Yin, Yan;
- Peng, Hui;
- Sun, Lingling
Publication type:
Article
Hypomethylation of MIR‐378 5'‐flanking region predicts poor survival in young patients with myelodysplastic syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1067
By:
- Wu, De‐hong;
- Zhu, Xiao‐wen;
- Wen, Xiang‐mei;
- Zhang, Ying‐ying;
- Ma, Ji‐chun;
- Yao, Dong‐ming;
- Zhou, Jing‐dong;
- Guo, Hong;
- Wu, Peng‐fei;
- Zhang, Xing‐li;
- Qiu, Hong‐chun;
- Lin, Jiang;
- Qian, Jun
Publication type:
Article
Cover.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1158
By:
- Lin, Mao;
- Liu, Zhenlei;
- Liu, Gang;
- Zhao, Sen;
- Li, Chao;
- Chen, Weisheng;
- Coban Akdemir, Zeynep;
- Lin, Jiachen;
- Song, Xiaofei;
- Wang, Shengru;
- Xu, Qiming;
- Zhao, Yanxue;
- Wang, Lianlei;
- Zhang, Yuanqiang;
- Yan, Zihui;
- Liu, Sen;
- Liu, Jiaqi;
- Chen, Yixin;
- Zuo, Yuzhi;
- Yang, Xu
Publication type:
Article
Issue Information.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.758
Publication type:
Article
Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1068
By:
- Zhao, Zichen;
- Wang, Wenhui;
- You, Yan;
- Zhu, Lan;
- Feng, Fengzhi
Publication type:
Article
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1063
By:
- Chen, Min;
- Hao, Hu;
- Xiong, Hui;
- Cai, Yao;
- Ma, Fei;
- Shi, Congcong;
- Xiao, Xin;
- Li, Sitao
Publication type:
Article
Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1–4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1033
By:
- Keicho, Naoto;
- Hijikata, Minako;
- Morimoto, Kozo;
- Homma, Sakae;
- Taguchi, Yoshio;
- Azuma, Arata;
- Kudoh, Shoji
Publication type:
Article
Placental endothelial nitric oxide synthase expression and role of oxidative stress in susceptibility to preeclampsia in Pakistani women.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1019
By:
- Shaheen, Ghazala;
- Jahan, Sarwat;
- Ain, Qurat Ul;
- Ullah, Asad;
- Afsar, Tayyaba;
- Almajwal, Ali;
- Alam, Iftikhar;
- Razak, Suhail
Publication type:
Article
Social and medical need for whole genome high resolution NIPT.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1062
By:
- Srebniak, Malgorzata I.;
- Knapen, Maarten F. C. M.;
- Govaerts, Lutgarde C. P.;
- Polak, Marike;
- Joosten, Marieke;
- Diderich, Karin E. M.;
- van Zutven, Laura J. C. M.;
- Prinsen, Krista A. K. E.;
- Riedijk, Sam;
- Go, Attie T. J. I.;
- Galjaard, Robert‐Jan H.;
- Hoefsloot, Lies H.;
- Van Opstal, Diane
Publication type:
Article
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1058
By:
- Zhou, Yong‐An;
- Li, Ping;
- Zhang, Yanping;
- Xiong, Qiuhong;
- Li, Chao;
- Zhao, Zhonghua;
- Wang, Yuxian;
- Xiao, Han
Publication type:
Article
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1056
By:
- Catusi, Ilaria;
- Recalcati, Maria Paola;
- Bestetti, Ilaria;
- Garzo, Maria;
- Valtorta, Chiara;
- Alfonsi, Melissa;
- Alghisi, Alberta;
- Cappellani, Stefania;
- Casalone, Rosario;
- Caselli, Rossella;
- Ceccarini, Caterina;
- Ceglia, Carlo;
- Ciaschini, Anna Maria;
- Coviello, Domenico;
- Crosti, Francesca;
- D'Aprile, Annamaria;
- Fabretto, Antonella;
- Genesio, Rita;
- Giagnacovo, Marzia;
- Granata, Paola
Publication type:
Article
Candidate modifier genes for immune function in 22q11.2 deletion syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1057
By:
- Pinnaro, Catherina T.;
- Henry, Travis;
- Major, Heather J.;
- Parida, Mrutyunjaya;
- DesJardin, Lucy E.;
- Manak, John R.;
- Darbro, Benjamin W.
Publication type:
Article
The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR‐522: A preliminary report.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1055
By:
- Zhou, Xinyue;
- Shan, Lili;
- Na, Jing;
- Li, Ya;
- Wang, Jun
Publication type:
Article
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1054
By:
- Traversa, Alice;
- Bernardo, Silvia;
- Paiardini, Alessandro;
- Giovannetti, Agnese;
- Marchionni, Enrica;
- Genovesi, Maria Luce;
- Guadagnolo, Daniele;
- Torres, Barbara;
- Paolacci, Stefano;
- Bernardini, Laura;
- Mazza, Tommaso;
- Carella, Massimo;
- Caputo, Viviana;
- Pizzuti, Antonio
Publication type:
Article
Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1051
By:
- Ben‐Omran, Tawfeg;
- Al Ghanim, Kaltham;
- Yavarna, Tarunashree;
- El Akoum, Maha;
- Samara, Muthanna;
- Chandra, Prem;
- Al‐Dewik, Nader
Publication type:
Article
Construction and evaluation of an efficient C‐Jun siRNA to downregulate matrix metalloproteinase in human keratinocytes and fibroblasts under UV exposure.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1047
By:
- Xiao, Hong;
- Yang, Ruinian;
- Yang, Fang;
- Zhao, Yanan;
- Liu, Yin
Publication type:
Article
Relationship between HLA‐DPA1 genetic polymorphism and anembryonic pregnancy.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1046
By:
- Wang, Zhendong;
- Lu, Xiaolin;
- Yao, Xiuying;
- Liu, Xinli;
- Zhao, Linlin;
- Chang, Shaoyan;
- Zhang, Ting;
- Niu, Bo;
- Wang, Li
Publication type:
Article
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1044
By:
- Zenteno, Juan C.;
- García‐Montaño, Leopoldo A.;
- Cruz‐Aguilar, Marisa;
- Ronquillo, Josué;
- Rodas‐Serrano, Agustín;
- Aguilar‐Castul, Luis;
- Matsui, Rodrigo;
- Vencedor‐Meraz, Carlos I.;
- Arce‐González, Rocío;
- Graue‐Wiechers, Federico;
- Gutiérrez‐Paz, Mario;
- Urrea‐Victoria, Tatiana;
- Dios Cuadras, Ulises;
- Chacón‐Camacho, Oscar F.
Publication type:
Article
MiR‐191‐5p inhibits lung adenocarcinoma by repressing SATB1 to inhibit Wnt pathway.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1043
By:
- Zhou, Lai‐yong;
- Zhang, Fu‐wei;
- Tong, Jian;
- Liu, Fang
Publication type:
Article
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1042
By:
- Tian, Yuan;
- Zhang, Linlin;
- Li, Ying;
- Gao, Jinshuang;
- Yu, Haiyang;
- Guo, Yaqing;
- Jia, Liting
Publication type:
Article
Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1041
By:
- Xu, Shijun;
- Li, Lei;
- Fu, Yuwei;
- Wang, Xin;
- Sun, Hairui;
- Wang, Jianbin;
- Han, Lu;
- Wu, Zining;
- Liu, Yongmin;
- Zhu, Junming;
- Sun, Lizhong;
- Lan, Feng;
- He, Yihua;
- Zhang, Hongjia
Publication type:
Article
Monoamino oxidase alleles correlate with the presence of essential hypertension among hypogonadic patients.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1040
By:
- Royo, José Luis;
- Castellano‐Castillo, Daniel;
- Ruiz‐Galdon, Maximiliano;
- Molina‐Vega, María;
- Cardona, Fernando;
- Tinahones, Francisco J.;
- Fernández‐García, José C.;
- Reyes‐Engel, Armando
Publication type:
Article
Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1039
By:
- Sowho, Mudiaga O.;
- Patil, Susheel;
- Schneider, Hartmut;
- MacCarrick, Gretchen;
- Kirkness, Jason P.;
- Wolfe, Lisa F.;
- Sterni, Laura;
- Cistulli, Peter A.;
- Neptune, Enid R.
Publication type:
Article
Macrophage migration inhibitory factor promoter polymorphisms are associated with disease activity in rheumatoid arthritis patients from Southern Mexico.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1037
By:
- Santoscoy‐Ascencio, Guillermo;
- Baños‐Hernández, Christian Johana;
- Navarro‐Zarza, José Eduardo;
- Hernández‐Bello, Jorge;
- Bucala, Richard;
- López‐Quintero, Andres;
- Valdés‐Alvarado, Emmanuel;
- Parra‐Rojas, Isela;
- Illades‐Aguiar, Berenice;
- Muñoz‐Valle, José Francisco
Publication type:
Article
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036
By:
- Cascio, Lauren;
- Chen, Chin‐Fu;
- Pauly, Rini;
- Srikanth, Sujata;
- Jones, Kelly;
- Skinner, Cindy D.;
- Stevenson, Roger E.;
- Schwartz, Charles E.;
- Boccuto, Luigi
Publication type:
Article
Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1035
By:
- Ning, Zeqian;
- Yang, Zhiqian;
- Chen, Gaofei;
- Wu, Wenjiao;
- He, Longshuang;
- Sun, Yesheng;
- Cai, Dongpeng;
- Zhang, Wei
Publication type:
Article
Identification of a five‐mRNA signature as a novel potential prognostic biomarker in pediatric Wilms tumor.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1032
By:
- Lin, Xiao‐Dan;
- Wu, Yu‐Peng;
- Chen, Shao‐Hao;
- Sun, Xiong‐Lin;
- Ke, Zhi‐Bin;
- Chen, Dong‐Ning;
- Li, Xiao‐Dong;
- Lin, Yun‐Zhi;
- Wei, Yong;
- Zheng, Qing‐Shui;
- Xu, Ning;
- Xue, Xue‐Yi
Publication type:
Article
A new frameshift mutation in L1CAM producing X‐linked hydrocephalus.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1031
By:
- Kong, Weiqi;
- Wang, Xueyan;
- Zhao, Jing;
- Kang, Min;
- Xi, Na;
- Li, Shengmei
Publication type:
Article
Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1028
By:
- He, Yunpu;
- Huang, Liheng;
- Zheng, Yuqian;
- Chen, Jian‐Huan;
- Tang, Shijie
Publication type:
Article
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1026
By:
- Eno, Celeste C.;
- Barton, Stacey K.;
- Dorrani, Naghmeh;
- Cederbaum, Stephen D.;
- Deignan, Joshua L.;
- Grody, Wayne W.
Publication type:
Article
MicroRNA‐576‐5p enhances the invasion ability of trophoblast cells in preeclampsia by targeting TFAP2A.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1025
By:
- Wang, Xiaoning;
- Peng, Shiyuan;
- Cui, Kun;
- Hou, Fangjuan;
- Ding, Jie;
- li, Ali;
- Wang, Mingxia;
- Geng, Li
Publication type:
Article
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1023
By:
- Lin, Mao;
- Liu, Zhenlei;
- Liu, Gang;
- Zhao, Sen;
- Li, Chao;
- Chen, Weisheng;
- Coban Akdemir, Zeynep;
- Lin, Jiachen;
- Song, Xiaofei;
- Wang, Shengru;
- Xu, Qiming;
- Zhao, Yanxue;
- Wang, Lianlei;
- Zhang, Yuanqiang;
- Yan, Zihui;
- Liu, Sen;
- Liu, Jiaqi;
- Chen, Yixin;
- Zuo, Yuzhi;
- Yang, Xu
Publication type:
Article
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1013
By:
- Myers, Lynnea;
- Blyth, Moira;
- Moradkhani, Kamran;
- Hranilović, Dubravka;
- Polesie, Sam;
- Isaksson, Johan;
- Nordgren, Ann;
- Bucan, Maja;
- Vincent, Marie;
- Bölte, Sven;
- Anderlid, Britt‐Marie;
- Tammimies, Kristiina
Publication type:
Article
LncRNA DLX6‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1017
By:
- Yang, Bin;
- Jia, Lin;
- Ren, Hui;
- Jin, Caibao;
- Ren, Qingrong;
- Zhang, Haiyuan;
- Hu, Desheng;
- Zhang, Hao;
- Hu, Liu;
- Xie, Tao
Publication type:
Article
DDAH1 promoter ‐396 4N insertion variant is associated with increased risk of type 2 diabetes in a gender‐dependent manner.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1011
By:
- Zhu, Fasheng;
- Zhou, Chi;
- Wen, Zheng;
- Wang, Dao Wen
Publication type:
Article
Sudden unexpected death in asymptomatic infants due to PPA2 variants.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1008
By:
- Phoon, Colin K. L.;
- Halvorsen, Matthew;
- Goldstein, David B.;
- Rabin, Rachel;
- Cecchin, Frank;
- Crandall, Laura;
- Devinsky, Orrin
Publication type:
Article
Gene‐by‐gene interactions associated with the risk of conotruncal heart defects.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1010
By:
- Lyu, Chen;
- Webber, Daniel M.;
- MacLeod, Stewart L.;
- Hobbs, Charlotte A.;
- Li, Ming
Publication type:
Article

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