Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 1

Results: 39

Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 79, doi. 10.1002/humu.22211

By:

García‐Redondo, Alberto;
Dols‐Icardo, Oriol;
Rojas‐García, Ricard;
Esteban‐Pérez, Jesús;
Cordero‐Vázquez, Pilar;
Muñoz‐Blanco, José Luis;
Catalina, Irene;
González‐Muñoz, Miguel;
Varona, Luis;
Sarasola, Esther;
Povedano, Monica;
Sevilla, Teresa;
Guerrero, Antonio;
Pardo, Julio;
de Munain, Adolfo López;
Márquez‐Infante, Celedonio;
de Rivera, Francisco Javier Rodríguez;
Pastor, Pau;
Jericó, Ivonne;
de Arcaya, Amaya Álvarez

Publication type:

Article

Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 221, doi. 10.1002/humu.22218

By:

Helias, Virginie;
Saison, Carole;
Peyrard, Thierry;
Vera, Eliane;
Prehu, Claude;
Cartron, Jean‐Pierre;
Arnaud, Lionel

Publication type:

Article

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224

By:

Bisschoff, Izak J.;
Zeschnigk, Christine;
Horn, Denise;
Wellek, Brigitte;
Rieß, Angelika;
Wessels, Maja;
Willems, Patrick;
Jensen, Peter;
Busche, Andreas;
Bekkebraten, Jens;
Chopra, Maya;
Hove, Hanne Dahlgaard;
Evers, Christina;
Heimdal, Ketil;
Kaiser, Ann‐Sophie;
Kunstmann, Erdmut;
Robinson, Kristina Lagerstedt;
Linné, Maja;
Martin, Patricia;
McGrath, James

Publication type:

Article

KDM6 A Point Mutations Cause Kabuki Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 108, doi. 10.1002/humu.22229

By:

Miyake, Noriko;
Mizuno, Seiji;
Okamoto, Nobuhiko;
Ohashi, Hirofumi;
Shiina, Masaaki;
Ogata, Kazuhiro;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Niikawa, Norio;
Matsumoto, Naomichi

Publication type:

Article

Whole Exome Sequencing as a Tool for Autozygosity Mapping.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. vii, doi. 10.1002/humu.22179

By:

Layouni, Samia

Publication type:

Article

Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 97, doi. 10.1002/humu.22222

By:

Lynch, Danielle C.;
Dyment, David A.;
Huang, Lijia;
Nikkel, Sarah M.;
Lacombe, Didier;
Campeau, Philippe M.;
Lee, Brendan;
Bacino, Carlos A.;
Michaud, Jacques L.;
Bernier, Francois P.;
Consortium, FORGE Canada;
Parboosingh, Jillian S.;
Innes, A. Micheil

Publication type:

Article

Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 229, doi. 10.1002/humu.22233

By:

Doimo, Mara;
Desbats, Maria Andrea;
Baldoin, Maria Cristina;
Lenzini, Elisabetta;
Basso, Giuseppe;
Murphy, Elaine;
Graziano, Claudio;
Seri, Marco;
Burlina, Alberto;
Sartori, Geppo;
Trevisson, Eva;
Salviati, Leonardo

Publication type:

Article

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p. Leu167del Mutation.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 83, doi. 10.1002/humu.22215

By:

Marduel, Marie;
Ouguerram, Khadija;
Serre, Valérie;
Bonnefont‐Rousselot, Dominique;
Marques‐Pinheiro, Alice;
Erik Berge, Knut;
Devillers, Martine;
Luc, Gérald;
Lecerf, Jean‐Michel;
Tosolini, Laurent;
Erlich, Danièle;
Peloso, Gina M.;
Stitziel, Nathan;
Nitchké, Patrick;
Jaïs, Jean‐Philippe;
Abifadel, Marianne;
Kathiresan, Sekar;
Leren, Trond Paul;
Rabès, Jean‐Pierre;
Boileau, Catherine

Publication type:

Article

Vari Bench: A Benchmark Database for Variations.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 42, doi. 10.1002/humu.22204

By:

Nair, Preethy Sasidharan;
Vihinen, Mauno

Publication type:

Article

Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 132, doi. 10.1002/humu.22170

By:

Hyndman, Brandy D.;
Gujral, Taranjit S.;
Krieger, Jonathan R.;
Cockburn, Jessica G.;
Mulligan, Lois M.

Publication type:

Article

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 157, doi. 10.1002/humu.22177

By:

Lokanga, Rachel Adihe;
Entezam, Ali;
Kumari, Daman;
Yudkin, Dmitry;
Qin, Mei;
Smith, Carolyn Beebe;
Usdin, Karen

Publication type:

Article

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 103, doi. 10.1002/humu.22226

By:

Capo‐Chichi, José‐Mario;
Bharti, Sanjay Kumar;
Sommers, Joshua A.;
Yammine, Tony;
Chouery, Eliane;
Patry, Lysanne;
Rouleau, Guy A.;
Samuels, Mark E.;
Hamdan, Fadi F.;
Michaud, Jacques L.;
Brosh Jr, Robert M.;
Mégarbane, André;
Kibar, Zoha

Publication type:

Article

Genetic Variant on PDGFRL Associated with Behçet Disease in Chinese Han Populations.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 74, doi. 10.1002/humu.22208

By:

Hou, Shengping;
Xiao, Xiang;
Zhou, Yan;
Zhu, Xiao;
Li, Fuzhen;
Kijlstra, Aize;
Yang, Peizeng

Publication type:

Article

The Facial Evolution: Looking Backward and Moving Forward.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 14, doi. 10.1002/humu.22219

By:

Baynam, Gareth;
Walters, Mark;
Claes, Peter;
Kung, Stefanie;
LeSouef, Peter;
Dawkins, Hugh;
Gillett, David;
Goldblatt, Jack

Publication type:

Article

General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. vii, doi. 10.1002/humu.22178

By:

Tommerup, Niels

Publication type:

Article

A Loss-of-Function Variant in the Human Histidyl-t RNA Synthetase ( HARS) Gene is Neurotoxic In Vivo.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 191, doi. 10.1002/humu.22210

By:

Vester, Aimée;
Velez‐Ruiz, Gisselle;
McLaughlin, Heather M.;
NISC Comparative Sequencing Program;
Lupski, James R.;
Talbot, Kevin;
Vance, Jeffery M.;
Züchner, Stephan;
Roda, Ricardo H.;
Fischbeck, Kenneth H.;
Biesecker, Leslie G.;
Nicholson, Garth;
Beg, Asim A.;
Antonellis, Anthony

Publication type:

Article

Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX 4/ FANCP.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 93, doi. 10.1002/humu.22221

By:

Schuster, Beatrice;
Knies, Kerstin;
Stoepker, Chantal;
Velleuer, Eunike;
Friedl, Richard;
Gottwald‐Mühlhauser, Birgit;
de Winter, Johan P.;
Schindler, Detlev

Publication type:

Article

Mutation Analysis of the IL 36 RN Gene in 14 Japanese Patients with Generalized Pustular Psoriasis.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 176, doi. 10.1002/humu.22203

By:

Farooq, Muhammad;
Nakai, Hiroyuki;
Fujimoto, Atsushi;
Fujikawa, Hiroki;
Matsuyama, Asako;
Kariya, Naoyuki;
Aizawa, Atsuko;
Fujiwara, Hiroshi;
Ito, Masaaki;
Shimomura, Yutaka

Publication type:

Article

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214

By:

Thompson, Bryony A.;
Greenblatt, Marc S.;
Vallee, Maxime P.;
Herkert, Johanna C.;
Tessereau, Chloe;
Young, Erin L.;
Adzhubey, Ivan A.;
Li, Biao;
Bell, Russell;
Feng, Bingjian;
Mooney, Sean D.;
Radivojac, Predrag;
Sunyaev, Shamil R.;
Frebourg, Thierry;
Hofstra, Robert M.W.;
Sijmons, Rolf H.;
Boucher, Ken;
Thomas, Alun;
Goldgar, David E.;
Spurdle, Amanda B.

Publication type:

Article

Making Sense of Unclassified Missense Substitutions in MMR Genes.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. vii, doi. 10.1002/humu.22180

By:

Vihinen, Mauno

Publication type:

Article

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 57, doi. 10.1002/humu.22225

By:

Shihab, Hashem A.;
Gough, Julian;
Cooper, David N.;
Stenson, Peter D.;
Barker, Gary L. A.;
Edwards, Keith J.;
Day, Ian N. M.;
Gaunt, Tom R.

Publication type:

Article

Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 248, doi. 10.1002/humu.22207

By:

Chambers, Philip A.;
Stead, Lucy F.;
Morgan, Joanne E.;
Carr, Ian M.;
Sutton, Kate M.;
Watson, Christopher M.;
Crowe, Victoria;
Dickinson, Helen;
Roberts, Paul;
Mulatero, Clive;
Seymour, Matthew;
Markham, Alexander F.;
Waring, Paul M.;
Quirke, Philip;
Taylor, Graham R.

Publication type:

Article

Joint Analysis of SNPs and Proteins Identifies Regulatory IL18 Gene Variations Decreasing the Chance of Spastic Cerebral Palsy.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 143, doi. 10.1002/humu.22173

By:

Hollegaard, Mads Vilhelm;
Skogstrand, Kristin;
Thorsen, Poul;
Nørgaard‐Pedersen, Bent;
Hougaard, David Michael;
Grove, Jakob

Publication type:

Article

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 167, doi. 10.1002/humu.22202

By:

Hoogeveen‐Westerveld, Marianne;
Ekong, Rosemary;
Povey, Sue;
Mayer, Karin;
Lannoy, Nathalie;
Elmslie, Frances;
Bebin, Martina;
Dies, Kira;
Thompson, Catherine;
Sparagana, Steven P.;
Davies, Peter;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

Autozygosity Mapping with Exome Sequence Data.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 50, doi. 10.1002/humu.22220

By:

Carr, Ian M.;
Bhaskar, Sanjeev;
O’ Sullivan, James;
Aldahmesh, Mohammed A.;
Shamseldin, Hanan E.;
Markham, Alexander F.;
Bonthron, David T.;
Black, Graeme;
Alkuraya, Fowzan S.

Publication type:

Article

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 200, doi. 10.1002/humu.22213

By:

Thompson, Bryony A.;
Goldgar, David E.;
Paterson, Carol;
Clendenning, Mark;
Walters, Rhiannon;
Arnold, Sven;
Parsons, Michael T.;
Michael D., Walsh;
Gallinger, Steven;
Haile, Robert W.;
Hopper, John L.;
Jenkins, Mark A.;
LeMarchand, Loic;
Lindor, Noralane M.;
Newcomb, Polly A.;
Thibodeau, Stephen N.;
Young, Joanne P.;
Buchanan, Daniel D.;
Tavtigian, Sean V.;
Spurdle, Amanda B.

Publication type:

Article

Analysis of the Novel Fanconi Anemia Gene SLX4/ FANCP in Familial Breast Cancer Cases.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 70, doi. 10.1002/humu.22206

By:

Bakker, Janine L.;
van Mil, Saskia E.;
Crossan, Gerry;
Sabbaghian, Nelly;
De Leeneer, Kim;
Poppe, Bruce;
Adank, Muriel;
Gille, Hans;
Verheul, Henk;
Meijers‐Heijboer, Hanne;
de Winter, Johan P.;
Claes, Kathleen;
Tischkowitz, Marc;
Waisfisz, Quinten

Publication type:

Article

Comprehensive Functional Assessment of MLH1 Variants of Unknown Significance.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 274, doi. 10.1002/humu.22246

By:

Borràs, Ester;
Pineda, Marta;
Brieger, Angela;
Hinrichsen, Inga;
Gómez, Carolina;
Navarro, Matilde;
Balmaña, Judit;
Ramón y Cajal, Teresa;
Torres, Asunción;
Brunet, Joan;
Blanco, Ignacio;
Plotz, Guido;
Lázaro, Conxi;
Capellá, Gabriel

Publication type:

Article

Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 1, doi. 10.1002/humu.22172

By:

Cantsilieris, Stuart;
White, Stefan J.

Publication type:

Article

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 111, doi. 10.1002/humu.22165

By:

Callewaert, Bert;
Su, Chi‐Ting;
Van Damme, Tim;
Vlummens, Philip;
Malfait, Fransiska;
Vanakker, Olivier;
Schulz, Bianca;
Mac Neal, Meghan;
Davis, Elaine C.;
Lee, Joseph G.H.;
Salhi, Aicha;
Unger, Sheila;
Heimdal, Ketil;
De Almeida, Salome;
Kornak, Uwe;
Gaspar, Harald;
Bresson, Jean‐Luc;
Prescott, Katrina;
Gosendi, Maria E.;
Mansour, Sahar

Publication type:

Article

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 210, doi. 10.1002/humu.22217

By:

Dittwald, Piotr;
Gambin, Tomasz;
Gonzaga‐Jauregui, Claudia;
Carvalho, Claudia M.B.;
Lupski, James R.;
Stankiewicz, Paweł;
Gambin, Anna

Publication type:

Article

Investigation of the Relationship Between Prostate Cancer and MSMB and NCOA4 Genetic Variants and Protein Expression.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 149, doi. 10.1002/humu.22176

By:

FitzGerald, Liesel M.;
Zhang, Xiaotun;
Kolb, Suzanne;
Kwon, Erika M.;
Liew, Ying Ching;
Hurtado‐Coll, Antonio;
Knudsen, Beatrice S.;
Ostrander, Elaine A.;
Stanford, Janet L.

Publication type:

Article

Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 122, doi. 10.1002/humu.22169

By:

Luksch, Hella;
Romanowski, Michael J.;
Chara, Osvaldo;
Tüngler, Victoria;
Caffarena, Ernesto R.;
Heymann, Michael C.;
Lohse, Peter;
Aksentijevich, Ivona;
Remmers, Elaine F.;
Flecks, Silvana;
Quoos, Nadine;
Gramatté, Johannes;
Petzold, Cathleen;
Hofmann, Sigrun R.;
Winkler, Stefan;
Pessler, Frank;
Kallinich, Tilmann;
Ganser, Gerd;
Nimtz‐Talaska, Antje;
Baumann, Ulrich

Publication type:

Article

General Olfactory Sensitivity Database ( GOSdb): Candidate Genes and their Genomic Variations.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 32, doi. 10.1002/humu.22212

By:

Keydar, Ifat;
Ben‐Asher, Edna;
Feldmesser, Ester;
Nativ, Noam;
Oshimoto, Arisa;
Restrepo, Diego;
Matsunami, Hiroaki;
Chien, Ming‐Shan;
Pinto, Jayant M.;
Gilad, Yoav;
Olender, Tsviya;
Lancet, Doron

Publication type:

Article

FLT 4/ VEGFR 3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 23, doi. 10.1002/humu.22223

By:

Gordon, Kristiana;
Spiden, Sarah L.;
Connell, Fiona C.;
Brice, Glen;
Cottrell, Sally;
Short, John;
Taylor, Rohan;
Jeffery, Steve;
Mortimer, Peter S.;
Mansour, Sahar;
Ostergaard, Pia

Publication type:

Article

A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 66, doi. 10.1002/humu.22205

By:

Abdelfatah, Nelly;
Merner, Nancy;
Houston, Jim;
Benteau, Tammy;
Griffin, Anne;
Doucette, Lance;
Stockley, Tracy;
Lauzon, Julie L.;
Young, Terry‐Lynn

Publication type:

Article

Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 88, doi. 10.1002/humu.22216

By:

Goff, Carine Le;
Mahaut, Clémentine;
Bottani, Armand;
Doray, Berenice;
Goldenberg, Alice;
Moncla, Anne;
Odent, Sylvie;
Nitschke, Patrick;
Munnich, Arnold;
Faivre, Laurence;
Cormier‐Daire, Valérie

Publication type:

Article

High-Specificity Single-Tube Multiplex Genotyping Using Ribo- PAP PCR, Tag Primers, Alkali Cleavage of RNA/ DNA Chimeras and MALDI- TOF MS.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 266, doi. 10.1002/humu.22227

By:

Mauger, Florence;
Gelfand, David H.;
Gupta, Amar;
Bodepudi, Veeraiah;
Will, Stephen G.;
Bauer, Keith;
Myers, Thomas W.;
Gut, Ivo G.

Publication type:

Article

JP-45/ JSRP 1 Variants Affect Skeletal Muscle Excitation-Contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 184, doi. 10.1002/humu.22209

By:

Yasuda, Toshimichi;
Delbono, Osvaldo;
Wang, Zhong‐Min;
Messi, Maria L.;
Girard, Thierry;
Urwyler, Albert;
Treves, Susan;
Zorzato, Francesco

Publication type:

Article