Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 6

Results: 19

Back Cover, Volume 40, Issue 6.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. ii, doi. 10.1002/humu.23796

By:

Marakhonov, Andrey V.;
Brodehl, Andreas;
Myasnikov, Roman P.;
Sparber, Peter A.;
Kiseleva, Anna V.;
Kulikova, Olga V.;
Meshkov, Alexey N.;
Zharikova, Anastasia A.;
Koretsky, Serguey N.;
Kharlap, Maria S.;
Stanasiuk, Caroline;
Mershina, Elena A.;
Sinitsyn, Valentin E.;
Shevchenko, Alexey O.;
Mozheyko, Natalia P.;
Drapkina, Oksana M.;
Boytsov, Sergey A.;
Milting, Hendrik;
Skoblov, Mikhail Yu.

Publication type:

Article

Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 729, doi. 10.1002/humu.23736

By:

Siraj, Abdul K.;
Bu, Rong;
Iqbal, Kaleem;
Siraj, Nabil;
Al‐Haqawi, Wael;
Al‐Badawi, Ismail A.;
Parvathareddy, Sandeep Kumar;
Masoodi, Tariq;
Tulbah, Asma;
Al‐Dayel, Fouad;
Al‐Kuraya, Khawla S.

Publication type:

Article

Concern regarding classification of germline TP53 variants as likely pathogenic.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 828, doi. 10.1002/humu.23750

By:

Evans, D. Gareth;
Turnbull, Clare;
Woodward, Emma R.

Publication type:

Article

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 832, doi. 10.1002/humu.23749

By:

Andrade, Kelvin C.;
Frone, Megan N.;
Wegman‐Ostrosky, Talia;
Khincha, Payal P.;
Kim, Jung;
Amadou, Amina;
Santiago, Karina M.;
Fortes, Fernanda P.;
Lemonnier, Nathanaël;
Mirabello, Lisa;
Stewart, Douglas R.;
Hainaut, Pierre;
Kowalski, Luiz P.;
Savage, Sharon A.;
Achatz, Maria I.

Publication type:

Article

Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 734, doi. 10.1002/humu.23747

By:

Marakhonov, Andrey V.;
Brodehl, Andreas;
Myasnikov, Roman P.;
Sparber, Peter A.;
Kiseleva, Anna V.;
Kulikova, Olga V.;
Meshkov, Alexey N.;
Zharikova, Anastasia A.;
Koretsky, Serguey N.;
Kharlap, Maria S.;
Stanasiuk, Caroline;
Mershina, Elena A.;
Sinitsyn, Valentin E.;
Shevchenko, Alexey O.;
Mozheyko, Natalia P.;
Drapkina, Oksana M.;
Boytsov, Sergey A.;
Milting, Hendrik;
Skoblov, Mikhail Yu.

Publication type:

Article

Proposition of adjustments to the ACMG‐AMP framework for the interpretation of MEN1 missense variants.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 661, doi. 10.1002/humu.23746

By:

Romanet, Pauline;
Odou, Marie‐Françoise;
North, Marie‐Odile;
Saveanu, Alexandru;
Coppin, Lucie;
Pasmant, Eric;
Mohamed, Amira;
Goudet, Pierre;
Borson‐Chazot, Françoise;
Calender, Alain;
Béroud, Christophe;
Lévy, Nicolas;
Giraud, Sophie;
Barlier, Anne

Publication type:

Article

Front Cover, Volume 40, Issue 6.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795

By:

Carli, Diana;
Giorgio, Elisa;
Pantaleoni, Francesca;
Bruselles, Alessandro;
Barresi, Sabina;
Riberi, Evelise;
Licciardi, Francesco;
Gazzin, Andrea;
Baldassarre, Giuseppina;
Pizzi, Simone;
Niceta, Marcello;
Radio, Francesca C.;
Molinatto, Cristina;
Montin, Davide;
Calvo, Pier L.;
Ciolfi, Andrea;
Fleischer, Nicole;
Ferrero, Giovanni B.;
Brusco, Alfredo;
Tartaglia, Marco

Publication type:

Article

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 742, doi. 10.1002/humu.23741

By:

Amato, Felice;
Scudieri, Paolo;
Musante, Ilaria;
Tomati, Valeria;
Caci, Emanuela;
Comegna, Marika;
Maietta, Sabrina;
Manzoni, Francesca;
Di Lullo, Antonella Miriam;
Wachter, Elke;
Vanderhelst, Eef;
Terlizzi, Vito;
Braggion, Cesare;
Castaldo, Giuseppe;
Galietta, Luis J. V.

Publication type:

Article

A quantitative model to predict pathogenicity of missense variants in the TP53 gene.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 788, doi. 10.1002/humu.23739

By:

Fortuno, Cristina;
Cipponi, Arcadi;
Ballinger, Mandy L.;
Tavtigian, Sean V.;
Olivier, Magali;
Ruparel, Vatsal;
Haupt, Ygal;
Haupt, Sue;
Study, International Sarcoma Kindred;
Tucker, Kathy;
Spurdle, Amanda B.;
Thomas, David M.;
James, Paul A.

Publication type:

Article

UniProt genomic mapping for deciphering functional effects of missense variants.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 694, doi. 10.1002/humu.23738

By:

McGarvey, Peter B.;
Nightingale, Andrew;
Luo, Jie;
Huang, Hongzhan;
Martin, Maria J.;
Wu, Cathy;
Consortium, UniProt

Publication type:

Article

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 675, doi. 10.1002/humu.23737

By:

Kheir, Valeria;
Cortés‐González, Vianney;
Zenteno, Juan C.;
Schorderet, Daniel F.

Publication type:

Article

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 816, doi. 10.1002/humu.23742

By:

Coci, Emanuele G.;
Gapsys, Vytautas;
Shur, Natasha;
Shin‐Podskarbi, Yoon;
Groot, Bert L.;
Miller, Kathryn;
Vockley, Jerry;
Sondheimer, Neal;
Ganetzky, Rebecca;
Freisinger, Peter

Publication type:

Article

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 765, doi. 10.1002/humu.23735

By:

Zeitz, Christina;
Michiels, Christelle;
Neuillé, Marion;
Friedburg, Christoph;
Condroyer, Christel;
Boyard, Fiona;
Antonio, Aline;
Bouzidi, Nassima;
Milicevic, Diana;
Veaux, Robin;
Tourville, Aurore;
Zoumba, Axelle;
Seneina, Imene;
Foussard, Marine;
Andrieu, Camille;
N. Preising, Markus;
Blanchard, Steven;
Saraiva, Jean‐Paul;
Mesrob, Lilia;
Le Floch, Edith

Publication type:

Article

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734

By:

Carli, Diana;
Giorgio, Elisa;
Pantaleoni, Francesca;
Bruselles, Alessandro;
Barresi, Sabina;
Riberi, Evelise;
Licciardi, Francesco;
Gazzin, Andrea;
Baldassarre, Giuseppina;
Pizzi, Simone;
Niceta, Marcello;
Radio, Francesca C.;
Molinatto, Cristina;
Montin, Davide;
Calvo, Pier L.;
Ciolfi, Andrea;
Fleischer, Nicole;
Ferrero, Giovanni B.;
Brusco, Alfredo;
Tartaglia, Marco

Publication type:

Article

A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 706, doi. 10.1002/humu.23733

By:

Meireles, Mariana R.;
Bragatte, Marcelo A.S.;
Bandinelli, Eliane;
Salzano, Francisco M.;
Vieira, Gustavo F.

Publication type:

Article

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 749, doi. 10.1002/humu.23730

By:

Campuzano, Oscar;
Sarquella‐Brugada, Georgia;
Fernandez‐Falgueras, Anna;
Cesar, Sergi;
Coll, Monica;
Mates, Jesus;
Arbelo, Elena;
Perez‐Serra, Alexandra;
del Olmo, Bernat;
Jordá, Paloma;
Fiol, Victoria;
Iglesias, Anna;
Puigmulé, Marta;
Lopez, Laura;
Pico, Ferran;
Brugada, Josep;
Brugada, Ramon

Publication type:

Article

Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 716, doi. 10.1002/humu.23725

By:

Solassol, Jérôme;
Larrieux, Marion;
Leclerc, Julie;
Ducros, Vincent;
Corsini, Carole;
Chiésa, Jean;
Pujol, Pascal;
Rey, Jean‐Marc

Publication type:

Article

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations.

Published in:

Human Mutation, 2019, v. 40, n. 6, p. 801, doi. 10.1002/humu.23724

By:

Zhou, Wei‐Zhen;
Zhang, Jie;
Li, Ziyi;
Lin, Xiaojing;
Li, Jiarui;
Wang, Sheng;
Yang, Changhong;
Wu, Qixi;
Ye, Adam Yongxin;
Wang, Meng;
Wang, Dandan;
Pu, Tad Zhengzhang;
Wu, Yu‐Yu;
Wei, Liping

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 6, p. 497, doi. 10.1002/humu.23572
Publication type:: Article