Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 11

Results: 17

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1180, doi. 10.1002/humu.23055

By:

Sanchez, Elena;
Darvish, Hossein;
Mesias, Roxana;
Taghavi, Shaghyegh;
Firouzabadi, Saghar Ghasemi;
Walker, Ruth H.;
Tafakhori, Abbas;
Paisán‐Ruiz, Coro

Publication type:

Article

Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1215, doi. 10.1002/humu.23067

By:

Chen, Brenden;
Solis‐Villa, Constanza;
Hakenberg, Jörg;
Qiao, Wanqiong;
Srinivasan, Ramakrishnan R.;
Yasuda, Makiko;
Balwani, Manisha;
Doheny, Dana;
Peter, Inga;
Chen, Rong;
Desnick, Robert J.

Publication type:

Article

Base-Biased Evolution of Disease-Associated Mutations in the Human Genome.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1209, doi. 10.1002/humu.23065

By:

Xue, Cheng;
Chen, Hua;
Yu, Fuli

Publication type:

Article

Functional SNP in 3′-UTR MicroRNA-Binding Site of ZNF350 Confers Risk for Age-Related Cataract.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1223, doi. 10.1002/humu.23073

By:

Gu, Shanshan;
Rong, Han;
Zhang, Guowei;
Kang, Lihua;
Yang, Mei;
Guan, Huaijin

Publication type:

Article

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1144, doi. 10.1002/humu.23054

By:

Maglic, Dino;
Stephen, Joshi;
Malicdan, May Christine V.;
Guo, Jennifer;
Fischer, Roxanne;
Konzman, Daniel;
Mullikin, James C.;
Gahl, William A.;
Vilboux, Thierry;
Gunay‐Aygun, Meral

Publication type:

Article

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1137, doi. 10.1002/humu.23049

By:

Peterson, Thomas A.;
Mort, Matthew;
Cooper, David N.;
Radivojac, Predrag;
Kann, Maricel G.;
Mooney, Sean D.

Publication type:

Article

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1162, doi. 10.1002/humu.23052

By:

Klift, Heleen M.;
Mensenkamp, Arjen R.;
Drost, Mark;
Bik, Elsa C.;
Vos, Yvonne J.;
Gille, Hans J.J.P.;
Redeker, Bert E.J.W.;
Tiersma, Yvonne;
Zonneveld, José B.M.;
García, Encarna Gómez;
Letteboer, Tom G.W.;
Olderode‐Berends, Maran J.W.;
Hest, Liselotte P.;
Os, Theo A.;
Verhoef, Senno;
Wagner, Anja;
Asperen, Christi J.;
ten Broeke, Sanne W.;
Hes, Frederik J.;
Wind, Niels

Publication type:

Article

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1149, doi. 10.1002/humu.23053

By:

Boulling, Arnaud;
Abrantes, Amandine;
Masson, Emmanuelle;
Cooper, David N.;
Robaszkiewicz, Michel;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

New Directions in Gaucher Disease.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1121, doi. 10.1002/humu.23056

By:

Horowitz, Mia;
Elstein, Deborah;
Zimran, Ari;
Goker‐Alpan, Ozlem

Publication type:

Article

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1202, doi. 10.1002/humu.23062

By:

Capponi, Simona;
Geuens, Thomas;
Geroldi, Alessandro;
Origone, Paola;
Verdiani, Simonetta;
Cichero, Elena;
Adriaenssens, Elias;
Winter, Vicky;
Bandettini di Poggio, Monica;
Barberis, Marco;
Chiò, Adriano;
Fossa, Paola;
Mandich, Paola;
Bellone, Emilia;
Timmerman, Vincent

Publication type:

Article

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1231, doi. 10.1002/humu.23072

By:

Murayama, Takashi;
Kurebayashi, Nagomi;
Ogawa, Haruo;
Yamazawa, Toshiko;
Oyamada, Hideto;
Suzuki, Junji;
Kanemaru, Kazunori;
Oguchi, Katsuji;
Iino, Masamitsu;
Sakurai, Takashi

Publication type:

Article

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1190, doi. 10.1002/humu.23057

By:

Stella, Jacqueline;
Buers, Insa;
de Wetering, Koen;
Höhne, Wolfgang;
Rutsch, Frank;
Nitschke, Yvonne

Publication type:

Article

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1157, doi. 10.1002/humu.23060

By:

Harlalka, Gaurav V.;
McEntagart, Meriel E.;
Gupta, Neerja;
Skrzypiec, Anna E.;
Mucha, Mariusz W.;
Chioza, Barry A.;
Simpson, Michael A.;
Sreekantan‐Nair, Ajith;
Pereira, Anthony;
Günther, Sven;
Jahic, Amir;
Modarres, Hamid;
Moore‐Barton, Heather;
Trembath, Richard C.;
Kabra, Madhulika;
Baple, Emma L.;
Thakur, Seema;
Patton, Michael A.;
Beetz, Christian;
Pawlak, Robert

Publication type:

Article

Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1153, doi. 10.1002/humu.23061

By:

Reading, N. Scott;
Shooter, Claire;
Song, Jihyun;
Miller, Robin;
Agarwal, Archana;
Lanikova, Lucie;
Clark, Barnaby;
Thein, Swee Lay;
Divoky, Vladimir;
Prchal, Josef T.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 11, p. 1115, doi. 10.1002/humu.23127
Publication type:: Article

Cover Image, Volume 37, Issue 11.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. i, doi. 10.1002/humu.23133

By:

Sanchez, Elena;
Darvish, Hossein;
Mesias, Roxana;
Taghavi, Shaghyegh;
Firouzabadi, Saghar Ghasemi;
Walker, Ruth H.;
Tafakhori, Abbas;
Paisán‐Ruiz, Coro

Publication type:

Article

The Importance of Assessment of Function in the Era of In Silico Analysis.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1119, doi. 10.1002/humu.23126

By:

Gilfix, Brian M.

Publication type:

Article