Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 11

Results: 26

Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2121, doi. 10.1002/humu.23867

By:

Goina, Elisa;
Musco, Lorena;
Dardis, Andrea;
Buratti, Emanuele

Publication type:

Article

Front Cover, Volume 40, Issue 11.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. i, doi. 10.1002/humu.23934

By:

Reuser, Arnold J. J.;
Ploeg, Ans T.;
Chien, Yin‐Hsiu;
Llerena, Juan;
Abbott, Mary‐Alice;
Clemens, Paula R.;
Kimonis, Virginia E.;
Leslie, Nancy;
Maruti, Sonia S.;
Sanson, Bernd‐Jan;
Araujo, Roberto;
Periquet, Magali;
Toscano, Antonio;
Kishnani, Priya S.;
on behalf of the Pompe Registry Sites

Publication type:

Article

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870

By:

Shaheen, Ranad;
Mark, Paul;
Prevost, Christopher T.;
AlKindi, Adila;
Alhag, Ahmad;
Estwani, Fatima;
Al‐Sheddi, Tarfa;
Alobeid, Eman;
Alenazi, Mona M.;
Ewida, Nour;
Ibrahim, Niema;
Hashem, Mais;
Abdulwahab, Firdous;
Bryant, Emily M.;
Spinelli, Egidio;
Millichap, John;
Barnett, Sarah S.;
Kearney, Hutton M.;
Accogli, Andrea;
Scala, Marcello

Publication type:

Article

Novel SCA19/22‐associated KCND3 mutations disrupt human K<sub>V</sub>4.3 protein biosynthesis and channel gating.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2088, doi. 10.1002/humu.23865

By:

Hsiao, Cheng‐Tsung;
Fu, Ssu‐Ju;
Liu, Yo‐Tsen;
Lu, Yi‐Hsiang;
Zhong, Ciao‐Yu;
Tang, Chih‐Yung;
Soong, Bing‐Wen;
Jeng, Chung‐Jiuan

Publication type:

Article

Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2001, doi. 10.1002/humu.23864

By:

Sun, Ling;
Fang, Xiang;
Chen, Zhiheng;
Zhang, Hanwang;
Zhang, Zhan;
Zhou, Pei;
Xue, Ting;
Peng, Xiaofang;
Zhu, Qianying;
Yin, Minna;
Liu, Chunlin;
Deng, Yu;
Hu, Hao;
Li, Na

Publication type:

Article

A key leader in homocystinuria research: Jan P. Kraus (1942–2019).

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1909, doi. 10.1002/humu.23897

By:

Kožich, Viktor;
Majtan, Tomas

Publication type:

Article

Corrigendum.

Published in:: Human Mutation, 2019, v. 40, n. 11, p. 2265, doi. 10.1002/humu.23871
Publication type:: Article

Iranome: A catalog of genomic variations in the Iranian population.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1968, doi. 10.1002/humu.23880

By:

Fattahi, Zohreh;
Beheshtian, Maryam;
Mohseni, Marzieh;
Poustchi, Hossein;
Sellars, Erin;
Nezhadi, Sayyed Hossein;
Amini, Amir;
Arzhangi, Sanaz;
Jalalvand, Khadijeh;
Jamali, Peyman;
Mohammadi, Zahra;
Davarnia, Behzad;
Nikuei, Pooneh;
Oladnabi, Morteza;
Mohammadzadeh, Akbar;
Zohrehvand, Elham;
Nejatizadeh, Azim;
Shekari, Mohammad;
Bagherzadeh, Maryam;
Shamsi‐Gooshki, Ehsan

Publication type:

Article

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2146, doi. 10.1002/humu.23878

By:

Reuser, Arnold J. J.;
Ploeg, Ans T.;
Chien, Yin‐Hsiu;
Llerena, Juan;
Abbott, Mary‐Alice;
Clemens, Paula R.;
Kimonis, Virginia E.;
Leslie, Nancy;
Maruti, Sonia S.;
Sanson, Bernd‐Jan;
Araujo, Roberto;
Periquet, Magali;
Toscano, Antonio;
Kishnani, Priya S.;
on behalf of the Pompe Registry Sites

Publication type:

Article

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1939, doi. 10.1002/humu.23877

By:

Kock, Leanne;
Wu, Mona K.;
Foulkes, William D.

Publication type:

Article

A functional variant in the miR‐142 promoter modulating its expression and conferring risk of Alzheimer disease.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2131, doi. 10.1002/humu.23872

By:

Ghanbari, Mohsen;
Munshi, Shashini T.;
Ma, Buyun;
Lendemeijer, Bas;
Bansal, Sakshi;
Adams, Hieab H.;
Wang, Wenshi;
Goth, Kerstin;
Slump, Denise E.;
den Hout, Mirjam C.G.N.;
IJcken, Wilfred F.J.;
Bellusci, Saverio;
Pan, Qiuwei;
Erkeland, Stefan J.;
Vrij, Femke M.S.;
Kushner, Steven A.;
Ikram, M. Arfan

Publication type:

Article

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2068, doi. 10.1002/humu.23862

By:

Niederlova, Veronika;
Modrak, Martin;
Tsyklauri, Oksana;
Huranova, Martina;
Stepanek, Ondrej

Publication type:

Article

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. e24, doi. 10.1002/humu.23851

By:

Fusco, Carmela;
Copetti, Massimiliano;
Mazza, Tommaso;
Amoruso, Luigi;
Mastoianno, Sandra;
Nardella, Grazia;
Guarnieri, Vito;
Micale, Lucia;
D'Agruma, Leonardo;
Castori, Marco

Publication type:

Article

Rs2262251 in lncRNA RP11‐462G12.2 is associated with nonsyndromic cleft lip with/without cleft palate.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2057, doi. 10.1002/humu.23859

By:

Yun, Lu;
Ma, Lan;
Wang, Meilin;
Yang, Fan;
Kan, Shiyi;
Zhang, Chi;
Xu, Min;
Li, Dandan;
Du, Yifei;
Zhang, Weibing;
Pan, Yongchu;
Wang, Lin

Publication type:

Article

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. e37, doi. 10.1002/humu.23855

By:

Botton, Mariana R.;
Lu, Xingwu;
Zhao, Geping;
Repnikova, Elena;
Seki, Yoshinori;
Gaedigk, Andrea;
Schadt, Eric E.;
Edelmann, Lisa;
Scott, Stuart A.

Publication type:

Article

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1954, doi. 10.1002/humu.23854

By:

Niño, Monica Y.;
in 't Groen, Stijn L.M.;
Bergsma, Atze J.;
Beek, Nadine A.M.E.;
Kroos, Marian;
Hoogeveen‐Westerveld, Marianne;
Ploeg, Ans T.;
Pijnappel, W.W.M. Pim

Publication type:

Article

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐ and MSH3‐associated polyposes.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1910, doi. 10.1002/humu.23853

By:

Terradas, Mariona;
Munoz‐Torres, Pau M.;
Belhadj, Sami;
Aiza, Gemma;
Navarro, Matilde;
Brunet, Joan;
Capellá, Gabriel;
Valle, Laura

Publication type:

Article

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1924, doi. 10.1002/humu.23860

By:

Gardner, Emily;
Bailey, Mitch;
Schulz, Angela;
Aristorena, Mikel;
Miller, Nicole;
Mole, Sara E.

Publication type:

Article

Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2007, doi. 10.1002/humu.23837

By:

Angel, Guillermo;
Hutchinson, Andrew T.;
Jain, Nina K.;
Forbes, Chris D.;
Reynders, John

Publication type:

Article

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2021, doi. 10.1002/humu.23836

By:

Quartier, Angélique;
Courraud, Jérémie;
Thi Ha, Thuong;
McGillivray, George;
Isidor, Bertrand;
Rose, Katherine;
Drouot, Nathalie;
Savidan, Marie‐Armel;
Feger, Claire;
Jagline, Hélène;
Chelly, Jamel;
Shaw, Marie;
Laumonnier, Frédéric;
Gecz, Jozef;
Mandel, Jean‐Louis;
Piton, Amélie

Publication type:

Article

Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2044, doi. 10.1002/humu.23848

By:

Rath, Abhijit;
Mishra, Akriti;
Ferreira, Victoria Duque;
Hu, Chaoran;
Omerza, Gregory;
Kelly, Kevin;
Hesse, Andrew;
Reddi, Honey V.;
Grady, James P.;
Heinen, Christopher D.

Publication type:

Article

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1985, doi. 10.1002/humu.23844

By:

Suleiman, Jehan;
Riedhammer, Korbinian M.;
Jicinsky, Timothy;
Mundt, Melinda;
Werner, Laurie;
Gusic, Mirjana;
Burgemeister, Anna L.;
Alsaif, Hessa S.;
Abdulrahim, Maha;
Moghrabi, Nabil N;
Nicolas‐Jilwan, Manal;
AlSayed, Moeenaldeen;
Bi, Weimin;
Sampath, Srirangan;
Alkuraya, Fowzan S.;
El‐Hattab, Ayman W.

Publication type:

Article

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. e1, doi. 10.1002/humu.23842

By:

Laitman, Yael;
Friebel, Tara M.;
Yannoukakos, Drakoulis;
Fostira, Florentia;
Konstantopoulou, Irene;
Figlioli, Gisella;
Bonanni, Bernardo;
Manoukian, Siranoush;
Zuradelli, Monica;
Tondini, Carlo;
Pasini, Barbara;
Peterlongo, Paolo;
Plaseska‐Karanfilska, Dijana;
Jakimovska, Milena;
Majidzadeh, Keivan;
Zarinfam, Shiva;
Loizidou, Maria A.;
Hadjisavvas, Andreas;
Michailidou, Kyriaki;
Kyriacou, Kyriacos

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 11, p. 1905, doi. 10.1002/humu.23578
Publication type:: Article

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 2033, doi. 10.1002/humu.23847

By:

Cohen, Enzo;
Belkacem, Sabrina;
Fedala, Soumeya;
Collot, Nathalie;
Khallouf, Eliane;
Dastot, Florence;
Polak, Michel;
Duquesnoy, Philippe;
Brioude, Frederic;
Rose, Sophie;
Viot, Géraldine;
Soleyan, Aude;
Carel, Jean‐Claude;
Sobrier, Marie‐Laure;
Chanson, Philippe;
Gatelais, Frédérique;
Heinrichs, Claudine;
Kaffel, Noureddine;
Coutant, Regis;
Savaş Erdeve, Şenay

Publication type:

Article

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Published in:

Human Mutation, 2019, v. 40, n. 11, p. 1993, doi. 10.1002/humu.23845

By:

Chatron, Nicolas;
Cassinari, Kevin;
Quenez, Olivier;
Baert‐Desurmont, Stéphanie;
Bardel, Claire;
Buisine, Marie‐Pierre;
Calpena, Eduardo;
Capri, Yline;
Corominas Galbany, Jordi;
Diguet, Flavie;
Edery, Patrick;
Isidor, Bertrand;
Labalme, Audrey;
Le Caignec, Cedric;
Lévy, Jonathan;
Lecoquierre, François;
Lindenbaum, Pierre;
Pichon, Olivier;
Rollat‐Farnier, Pierre‐Antoine;
Simonet, Thomas

Publication type:

Article