Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 10

Results: 19

Cover Image, Volume 39, Issue 10.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622

By:

Ferese, Rosangela;
Bonetti, Monica;
Consoli, Federica;
Guida, Valentina;
Sarkozy, Anna;
Lepri, Francesca Romana;
Versacci, Paolo;
Gambardella, Stefano;
Calcagni, Giulio;
Margiotti, Katia;
Piceci Sparascio, Francesca;
Hozhabri, Hossein;
Mazza, Tommaso;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Tartaglia, Marco;
Marino, Bruno;
Hertog, Jeroen den;
De Luca, Alessandro

Publication type:

Article

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1366, doi. 10.1002/humu.23606

By:

Weisschuh, Nicole;
Stingl, Katarina;
Audo, Isabelle;
Biskup, Saskia;
Bocquet, Béatrice;
Branham, Kari;
Burstedt, Marie S.;
De Baere, Elfride;
De Vries, Meindert J.;
Golovleva, Irina;
Green, Andrew;
Heckenlively, John;
Leroy, Bart P.;
Meunier, Isabelle;
Traboulsi, Elias;
Wissinger, Bernd;
Kohl, Susanne

Publication type:

Article

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1456, doi. 10.1002/humu.23605

By:

Pettersson, Maria;
Vaz, Raquel;
Hammarsjö, Anna;
Eisfeldt, Jesper;
Carvalho, Claudia M. B.;
Hofmeister, Wolfgang;
Tham, Emma;
Horemuzova, Eva;
Voss, Ulrika;
Nishimura, Gen;
Klintberg, Bo;
Nordgren, Ann;
Nilsson, Daniel;
Grigelioniene, Giedre;
Lindstrand, Anna

Publication type:

Article

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1344, doi. 10.1002/humu.23601

By:

Turkgenc, Burcu;
Sanlidag, Burcin;
Eker, Amber;
Giray, Aslı;
Kutuk, Ozgur;
Yakicier, Cengiz;
Tolun, Aslıhan;
Temel, Sehime G.

Publication type:

Article

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1314, doi. 10.1002/humu.23599

By:

Oliveira, Jorge;
Gruber, Angela;
Cardoso, Márcio;
Taipa, Ricardo;
Fineza, Isabel;
Gonçalves, Ana;
Laner, Andreas;
Winder, Thomas L.;
Schroeder, Jocelyn;
Rath, Julie;
Oliveira, Márcia E.;
Vieira, Emília;
Sousa, Ana Paula;
Vieira, José Pedro;
Lourenço, Teresa;
Almendra, Luciano;
Negrão, Luís;
Santos, Manuela;
Melo‐Pires, Manuel;
Coelho, Teresa

Publication type:

Article

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1360, doi. 10.1002/humu.23598

By:

Zhou, Yan;
Koelling, Nils;
Fenwick, Aimée L.;
McGowan, Simon J.;
Calpena, Eduardo;
Wall, Steven A.;
Smithson, Sarah F.;
Wilkie, Andrew O. M.;
Twigg, Stephen R. F.

Publication type:

Article

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next‐generation sequencing.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1442, doi. 10.1002/humu.23597

By:

Dong, Li;
Wu, Nan;
Wang, Shaojing;
Cheng, Yanan;
Han, Lei;
Zhao, Jing;
Long, Xinxin;
Mu, Kun;
Li, Menghui;
Wei, Lijuan;
Wang, Wanheng;
Zhang, Weijia;
Cao, Yandong;
Liu, Juntian;
Yu, Jinpu;
Hao, Xishan

Publication type:

Article

Homozygosity for FARSB mutation leads to Phe‐tRNA synthetase‐related disease of growth restriction, brain calcification, and interstitial lung disease.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1355, doi. 10.1002/humu.23595

By:

Zadjali, Fahad;
Al‐Yahyaee, Aida;
Al‐Nabhani, Maryam;
Al‐Mubaihsi, Saif;
Gujjar, Arunodaya;
Raniga, Sameer;
Al‐Maawali, Almundher

Publication type:

Article

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1305, doi. 10.1002/humu.23594

By:

Hotz, Alrun;
Bourrat, Emmanuelle;
Küsel, Julia;
Oji, Vinzenz;
Alter, Svenja;
Hake, Lisanne;
Korbi, Mouna;
Ott, Hagen;
Hausser, Ingrid;
Zimmer, Andreas D.;
Fischer, Judith

Publication type:

Article

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593

By:

Ferese, Rosangela;
Bonetti, Monica;
Consoli, Federica;
Guida, Valentina;
Sarkozy, Anna;
Lepri, Francesca Romana;
Versacci, Paolo;
Gambardella, Stefano;
Calcagni, Giulio;
Margiotti, Katia;
Piceci Sparascio, Francesca;
Hozhabri, Hossein;
Mazza, Tommaso;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Tartaglia, Marco;
Marino, Bruno;
Hertog, Jeroen den;
De Luca, Alessandro

Publication type:

Article

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1349, doi. 10.1002/humu.23592

By:

Vahidnezhad, Hassan;
Youssefian, Leila;
Saeidian, Amir Hossein;
Touati, Andrew;
Sotoudeh, Soheila;
Jazayeri, Ali;
Guy, Alyson;
Lovell, Patricia A.;
Liu, Lu;
Kariminejad, Ariana;
McGrath, John A.;
Zeinali, Sirous;
Uitto, Jouni

Publication type:

Article

Missense mutations have unexpected consequences: The McArdle disease paradigm.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1338, doi. 10.1002/humu.23591

By:

García‐Consuegra, Inés;
Asensio‐Peña, Sara;
Ballester‐Lopez, Alfonsina;
Francisco‐Velilla, Rosario;
Pinos, Tomás;
Pintos‐Morell, Guillem;
Coll‐Cantí, Jaume;
González‐Quintana, Adrián;
Andreu, Antoni L.;
Arenas, Joaquín;
Lucia, Alejandro;
Nogales‐Gadea, Gisela;
Martín, Miguel A.

Publication type:

Article

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1416, doi. 10.1002/humu.23590

By:

Roessler, Erich;
Hu, Ping;
Marino, Juliana;
Hong, Sungkook;
Hart, Rachel;
Berger, Seth;
Martinez, Ariel;
Abe, Yu;
Kruszka, Paul;
Thomas, James W.;
Mullikin, James C.;
NISC Comparative Sequencing Program;
Wang, Yupeng;
Wong, Wendy S. W.;
Niederhuber, John E.;
Solomon, Benjamin D.;
Richieri‐Costa, Antônio;
Ribeiro‐Bicudo, L. A.;
Muenke, Maximilian

Publication type:

Article

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage‐dependent sodium channel.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1402, doi. 10.1002/humu.23589

By:

Baroni, Debora;
Picco, Cristiana;
Moran, Oscar

Publication type:

Article

Corrigendum.

Published in:: Human Mutation, 2018, v. 39, n. 10, p. 1468, doi. 10.1002/humu.23588
Publication type:: Article

A characterization of postzygotic mutations identified in monozygotic twins.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1393, doi. 10.1002/humu.23586

By:

Ouwens, Klaasjan G.;
Jansen, Rick;
Tolhuis, Bas;
Slagboom, P. Eline;
Penninx, Brenda W. J. H.;
Boomsma, Dorret I.

Publication type:

Article

Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1384, doi. 10.1002/humu.23585

By:

Ton, Nguyen Dang;
Nakagawa, Hidewaki;
Ha, Nguyen Hai;
Duong, Nguyen Thuy;
Nhung, Vu Phuong;
Hien, Le Thi Thu;
Hue, Huynh Thi Thu;
Hoang, Nguyen Huy;
Wong, Jing Hao;
Nakano, Kaoru;
Maejima, Kazuhiro;
Sasaki‐Oku, Aya;
Tsunoda, Tatsuhiko;
Fujimoto, Akihiro;
Van Hai, Nong

Publication type:

Article

Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder.

Published in:

Human Mutation, 2018, v. 39, n. 10, p. 1372, doi. 10.1002/humu.23584

By:

Sánchez‐Sánchez, Sandra M.;
Magdalon, Juliana;
Griesi‐Oliveira, Karina;
Yamamoto, Guilherme L.;
Santacruz‐Perez, Carolina;
Fogo, Mariana;
Passos‐Bueno, Maria Rita;
Sertié, Andrea L.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 10, p. 1301, doi. 10.1002/humu.23331
Publication type:: Article