Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 10

Results: 15

Contents.

Published in:: 2014
Publication type:: Other

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1203, doi. 10.1002/humu.22617

By:

Makrythanasis, Periklis;
Nelis, Mari;
Santoni, Federico A.;
Guipponi, Michel;
Vannier, Anne;
Béna, Frédérique;
Gimelli, Stefania;
Stathaki, Elisavet;
Temtamy, Samia;
Mégarbané, André;
Masri, Amira;
Aglan, Mona S.;
Zaki, Maha S.;
Bottani, Armand;
Fokstuen, Siv;
Gwanmesia, Lorraine;
Aliferis, Konstantinos;
Bustamante Eduardo, Mariana;
Stamoulis, Georgios;
Psoni, Stavroula

Publication type:

Article

Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1195, doi. 10.1002/humu.22616

By:

Mendes, Marisa I. S.;
Santos, Ana Sofia;
Smith, Desirée E. C.;
Lino, Paulo Roque;
Colaço, Henrique G.;
Almeida, Isabel Tavares;
Vicente, João B.;
Salomons, Gajja S.;
Rivera, Isabel;
Blom, Henk J.;
Leandro, Paula

Publication type:

Article

Redefining Mutational Spectra via Updated Locus-specific Databases.

Published in:

2014

By:

den Dunnen, Johan

Publication type:

Other

Mutation of POC1 B in a Severe Syndromic Retinal Ciliopathy.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1153, doi. 10.1002/humu.22618

By:

Beck, Bodo B.;
Phillips, Jennifer B.;
Bartram, Malte P.;
Wegner, Jeremy;
Thoenes, Michaela;
Pannes, Andrea;
Sampson, Josephina;
Heller, Raoul;
Göbel, Heike;
Koerber, Friederike;
Neugebauer, Antje;
Hedergott, Andrea;
Nürnberg, Gudrun;
Nürnberg, Peter;
Thiele, Holger;
Altmüller, Janine;
Toliat, Mohammad R.;
Staubach, Simon;
Boycott, Kym M.;
Valente, Enza Maria

Publication type:

Article

A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1163, doi. 10.1002/humu.22631

By:

Rossi, Daniela;
Vezzani, Bianca;
Galli, Lucia;
Paolini, Cecilia;
Toniolo, Luana;
Pierantozzi, Enrico;
Spinozzi, Simone;
Barone, Virginia;
Pegoraro, Elena;
Bello, Luca;
Cenacchi, Giovanna;
Vattemi, Gaetano;
Tomelleri, Giuliano;
Ricci, Giulia;
Siciliano, Gabriele;
Protasi, Feliciano;
Reggiani, Carlo;
Sorrentino, Vincenzo

Publication type:

Article

Enrichment of LOVD- USHbases with 152 USH2 A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1179, doi. 10.1002/humu.22608

By:

Baux, David;
Blanchet, Catherine;
Hamel, Christian;
Meunier, Isabelle;
Larrieu, Lise;
Faugère, Valérie;
Vaché, Christel;
Castorina, Pierangela;
Puech, Bernard;
Bonneau, Dominique;
Malcolm, Sue;
Claustres, Mireille;
Roux, Anne‐Françoise

Publication type:

Article

Evidence Against RAB40 AL Being the Locus for Martin- Probst X-Linked Deafness-Intellectual Disability Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1171, doi. 10.1002/humu.22620

By:

Ołdak, Monika;
Ścieżyńska, Aneta;
Młynarski, Wojciech;
Borowiec, Maciej;
Ruszkowska, Ewelina;
Szulborski, Kamil;
Pollak, Agnieszka;
Kosińska, Joanna;
Mueller‐Malesińska, Małgorzata;
Stawiński, Piotr;
Szaflik, Jacek P.;
Płoski, Rafał

Publication type:

Article

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621

By:

Morin, Gilles;
Bruechle, Nadina Ortiz;
Singh, Amrathlal Rabbind;
Knopp, Cordula;
Jedraszak, Guillaume;
Elbracht, Miriam;
Brémond‐Gignac, Dominique;
Hartmann, Kathi;
Sevestre, Henri;
Deutz, Peter;
Hérent, Didier;
Nürnberg, Peter;
Roméo, Bernard;
Konrad, Kerstin;
Mathieu‐Dramard, Michèle;
Oldenburg, Johannes;
Bourges‐Petit, Elisabeth;
Shen, Yuequan;
Zerres, Klaus;
Ouadid‐Ahidouch, Halima

Publication type:

Article

Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1175, doi. 10.1002/humu.22622

By:

Arnedo, Tanit;
López‐Hernández, Tania;
Jeworutzki, Elena;
Capdevila‐Nortes, Xavier;
Sirisi, Sònia;
Pusch, Michael;
Estévez, Raúl

Publication type:

Article

Complex Tissue-Specific Epigenotypes in Russell- Silver Syndrome Associated with 11p15 ICR1 Hypomethylation.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1211, doi. 10.1002/humu.22623

By:

Azzi, Salah;
Blaise, Annick;
Steunou, Virginie;
Harbison, Madeleine D.;
Salem, Jennifer;
Brioude, Frédéric;
Rossignol, Sylvie;
Habib, Walid Abi;
Thibaud, Nathalie;
Neves, Cristina Das;
Jule, Marilyne Le;
Brachet, Cécile;
Heinrichs, Claudine;
Bouc, Yves Le;
Netchine, Irène

Publication type:

Article

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1249, doi. 10.1002/humu.22624

By:

Sharma, Neeraj;
Sosnay, Patrick R.;
Ramalho, Anabela S.;
Douville, Christopher;
Franca, Arianna;
Gottschalk, Laura B.;
Park, Jeenah;
Lee, Melissa;
Vecchio‐Pagan, Briana;
Raraigh, Karen S.;
Amaral, Margarida D.;
Karchin, Rachel;
Cutting, Garry R.

Publication type:

Article

A New Workflow for Whole-Genome Sequencing of Single Human Cells.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1260, doi. 10.1002/humu.22625

By:

Binder, Vera;
Bartenhagen, Christoph;
Okpanyi, Vera;
Gombert, Michael;
Moehlendick, Birte;
Behrens, Bianca;
Klein, Hans‐Ulrich;
Rieder, Harald;
Ida Krell, Pina Fanny;
Dugas, Martin;
Stoecklein, Nikolas Hendrik;
Borkhardt, Arndt

Publication type:

Article

Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1187, doi. 10.1002/humu.22626

By:

Zernant, Jana;
Collison, Frederick T.;
Lee, Winston;
Fishman, Gerald A.;
Noupuu, Kalev;
Yuan, Bo;
Cai, Carolyn;
Lupski, James R.;
Yannuzzi, Lawrence A.;
Tsang, Stephen H.;
Allikmets, Rando

Publication type:

Article

A Functional SNP Catalog of Overlapping mi RNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1233, doi. 10.1002/humu.22627

By:

Saba, Reuben;
Medina, Sarah J.;
Booth, Stephanie A.

Publication type:

Article