Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 9

Results: 16

Back Cover, Volume 39, Issue 9.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. ii, doi. 10.1002/humu.23618
By:
- Montalban, Gemma;
- Fraile‐Bethencourt, Eugenia;
- López‐Perolio, Irene;
- Pérez‐Segura, Pedro;
- Infante, Mar;
- Durán, Mercedes;
- Alonso‐Cerezo, María Concepción;
- López‐Fernández, Adrià;
- Diez, Orland;
- de la Hoya, Miguel;
- Velasco, Eladio A.;
- Gutiérrez‐Enríquez, Sara
Publication type:
Article
Cover Image, Volume 39, Issue 9.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. i, doi. 10.1002/humu.23600
By:
- Wang, Richard T.;
- Barthelemy, Florian;
- Martin, Ann S.;
- Douine, Emilie D.;
- Eskin, Ascia;
- Lucas, Ann;
- Lavigne, Jenifer;
- Peay, Holly;
- Khanlou, Negar;
- Sweeney, Lee;
- Cantor, Rita M.;
- Miceli, M. Carrie;
- Nelson, Stanley F.
Publication type:
Article
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1155, doi. 10.1002/humu.23583
By:
- Montalban, Gemma;
- Fraile‐Bethencourt, Eugenia;
- López‐Perolio, Irene;
- Pérez‐Segura, Pedro;
- Infante, Mar;
- Durán, Mercedes;
- Alonso‐Cerezo, María Concepción;
- López‐Fernández, Adrià;
- Diez, Orland;
- de la Hoya, Miguel;
- Velasco, Eladio A.;
- Gutiérrez‐Enríquez, Sara
Publication type:
Article
Erratum.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1299, doi. 10.1002/humu.23582
Publication type:
Article
Further delineation of Malan syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1226, doi. 10.1002/humu.23563
By:
- Priolo, Manuela;
- Schanze, Denny;
- Tatton‐Brown, Katrin;
- Mulder, Paul A.;
- Tenorio, Jair;
- Kooblall, Kreepa;
- Acero, Inés Hernández;
- Alkuraya, Fowzan S.;
- Arias, Pedro;
- Bernardini, Laura;
- Bijlsma, Emilia K.;
- Cole, Trevor;
- Coubes, Christine;
- Dapia, Irene;
- Davies, Sally;
- Di Donato, Nataliya;
- Elcioglu, Nursel H.;
- Fahrner, Jill A.;
- Foster, Alison;
- González, Noelia García
Publication type:
Article
Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1203, doi. 10.1002/humu.23562
By:
- Giacopuzzi, Edoardo;
- Laffranchi, Mattia;
- Berardelli, Romina;
- Ravasio, Viola;
- Ferrarotti, Ilaria;
- Gooptu, Bibek;
- Borsani, Giuseppe;
- Fra, Annamaria
Publication type:
Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
By:
- Altamura, Concetta;
- Lucchiari, Sabrina;
- Sahbani, Dalila;
- Ulzi, Gianna;
- Comi, Giacomo P.;
- D'Ambrosio, Paola;
- Petillo, Roberta;
- Politano, Luisa;
- Vercelli, Liliana;
- Mongini, Tiziana;
- Dotti, Maria Teresa;
- Cardani, Rosanna;
- Meola, Giovanni;
- Lo Monaco, Mauro;
- Matthews, Emma;
- Hanna, Michael G.;
- Carratù, Maria Rosaria;
- Conte, Diana;
- Imbrici, Paola;
- Desaphy, Jean‐François
Publication type:
Article
Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1238, doi. 10.1002/humu.23566
By:
- Deng, Yanhan;
- Li, Zongzhe;
- Liu, Juan;
- Wang, Zheng;
- Cao, Yanyan;
- Mou, Yong;
- Fu, Bohua;
- Mo, Biwen;
- Wei, Jianghong;
- Cheng, Zhenshun;
- Luo, Liman;
- Li, Jingping;
- Shu, Ying;
- Wang, Xiaomei;
- Luo, Guangwei;
- Yang, Shuo;
- Wang, Yingnan;
- Zhu, Jing;
- Yang, Jingping;
- Wu, Ming
Publication type:
Article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
By:
- Overwater, Eline;
- Marsili, Luisa;
- Baars, Marieke J. H.;
- Baas, Annette F.;
- van de Beek, Irma;
- Dulfer, Eelco;
- van Hagen, Johanna M.;
- Hilhorst‐Hofstee, Yvonne;
- Kempers, Marlies;
- Krapels, Ingrid P.;
- Menke, Leonie A.;
- Verhagen, Judith M. A.;
- Yeung, Kak K.;
- Zwijnenburg, Petra J. G.;
- Groenink, Maarten;
- van Rijn, Peter;
- Weiss, Marjan M.;
- Voorhoeve, Els;
- van Tintelen, J. Peter;
- Houweling, Arjan C.
Publication type:
Article
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1214, doi. 10.1002/humu.23564
By:
- Mur, Pilar;
- Jemth, Ann‐Sofie;
- Bevc, Luka;
- Amaral, Nuno;
- Navarro, Matilde;
- Valdés‐Mas, Rafael;
- Pons, Tirso;
- Aiza, Gemma;
- Urioste, Miguel;
- Valencia, Alfonso;
- Lázaro, Conxi;
- Moreno, Victor;
- Puente, Xose S.;
- Stenmark, Pål;
- Warpman‐Berglund, Ulrika;
- Capellá, Gabriel;
- Helleday, Thomas;
- Valle, Laura
Publication type:
Article
Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1262, doi. 10.1002/humu.23580
By:
- Höijer, Ida;
- Tsai, Yu‐Chih;
- Clark, Tyson A.;
- Kotturi, Paul;
- Dahl, Niklas;
- Stattin, Eva‐Lena;
- Bondeson, Marie‐Louise;
- Feuk, Lars;
- Gyllensten, Ulf;
- Ameur, Adam
Publication type:
Article
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1246, doi. 10.1002/humu.23567
By:
- Meester, Josephina A. N.;
- Sukalo, Maja;
- Schröder, Kim C.;
- Schanze, Denny;
- Baynam, Gareth;
- Borck, Guntram;
- Bramswig, Nuria C.;
- Duman, Duygu;
- Gilbert‐Dussardier, Brigitte;
- Holder‐Espinasse, Muriel;
- Itin, Peter;
- Johnson, Diana S.;
- Joss, Shelagh;
- Koillinen, Hannele;
- McKenzie, Fiona;
- Morton, Jenny;
- Nelle, Heike;
- Reardon, Willie;
- Roll, Claudia;
- Salih, Mustafa A.
Publication type:
Article
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1193, doi. 10.1002/humu.23561
By:
- Wang, Richard T.;
- Barthelemy, Florian;
- Martin, Ann S.;
- Douine, Emilie D.;
- Eskin, Ascia;
- Lucas, Ann;
- Lavigne, Jenifer;
- Peay, Holly;
- Khanlou, Negar;
- Sweeney, Lee;
- Cantor, Rita M.;
- Miceli, M. Carrie;
- Nelson, Stanley F.
Publication type:
Article
Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1284, doi. 10.1002/humu.23560
By:
- Karakaya, Mert;
- Storbeck, Markus;
- Strathmann, Eike A.;
- Delle Vedove, Andrea;
- Hölker, Irmgard;
- Altmueller, Janine;
- Naghiyeva, Leyla;
- Schmitz‐Steinkrüger, Lea;
- Vezyroglou, Katharina;
- Motameny, Susanne;
- Alawbathani, Salem;
- Thiele, Holger;
- Polat, Ayse Ipek;
- Okur, Derya;
- Boostani, Reza;
- Karimiani, Ehsan Ghayoor;
- Wunderlich, Gilbert;
- Ardicli, Didem;
- Topaloglu, Haluk;
- Kirschner, Janbernd
Publication type:
Article
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1161, doi. 10.1002/humu.23559
By:
- Kiselev, Artem;
- Vaz, Raquel;
- Knyazeva, Anastasia;
- Khudiakov, Aleksandr;
- Tarnovskaya, Svetlana;
- Liu, Jiao;
- Sergushichev, Alexey;
- Kazakov, Sergey;
- Frishman, Dmitrij;
- Smolina, Natalia;
- Pervunina, Tatiana;
- Jorholt, John;
- Sjoberg, Gunnar;
- Vershinina, Tatiana;
- Rudenko, Dmitriy;
- Arner, Anders;
- Sejersen, Thomas;
- Lindstrand, Anna;
- Kostareva, Anna
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1151, doi. 10.1002/humu.23330
Publication type:
Article