Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 4

Results: 17

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 409, doi. 10.1002/humu.23170
By:
- Skopkova, Martina;
- Hennig, Friederike;
- Shin, Byung‐Sik;
- Turner, Clesson E.;
- Stanikova, Daniela;
- Brennerova, Katarina;
- Stanik, Juraj;
- Fischer, Ute;
- Henden, Lyndal;
- Müller, Ulrich;
- Steinberger, Daniela;
- Leshinsky‐Silver, Esther;
- Bottani, Armand;
- Kurdiova, Timea;
- Ukropec, Jozef;
- Nyitrayova, Olga;
- Kolnikova, Miriam;
- Klimes, Iwar;
- Borck, Guntram;
- Bahlo, Melanie
Publication type:
Article
Key insights into the protein tyrosine phosphatase PTPN11/SHP2 associated with noonan syndrome and cancer.
Published in:
2017
By:
- Bondeson, Marie‐Louise
Publication type:
Editorial
Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 378, doi. 10.1002/humu.23153
By:
- Chen, Xiaoli;
- An, Yu;
- Gao, Yonghui;
- Guo, Liu;
- Rui, Lei;
- Xie, Hua;
- Sun, Mei;
- Lam Hung, Siv;
- Sheng, Xiaoming;
- Zou, Jizhen;
- Bao, Yihua;
- Guan, Hongyan;
- Niu, Bo;
- Li, Zandong;
- Finnell, Richard H.;
- Gusella, James F.;
- Wu, Bai‐Lin;
- Zhang, Ting
Publication type:
Article
Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 390, doi. 10.1002/humu.23159
By:
- Rahbari, Raheleh;
- Zuccherato, Luciana W;
- Tischler, German;
- Chihota, Belinda;
- Ozturk, Hasret;
- Saleem, Sara;
- Tarazona‐Santos, Eduardo;
- Machado, Lee R;
- Hollox, Edward J
Publication type:
Article
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 373, doi. 10.1002/humu.23171
By:
- Webb, Bryn D.;
- Metikala, Sanjeeva;
- Wheeler, Patricia G.;
- Sherpa, Mingma D.;
- Houten, Sander M.;
- Horb, Marko E.;
- Schadt, Eric E.
Publication type:
Article
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 426, doi. 10.1002/humu.23172
By:
- Böhm, Johann;
- Bulla, Monica;
- Urquhart, Jill E.;
- Malfatti, Edoardo;
- Williams, Simon G.;
- O'Sullivan, James;
- Szlauer, Anastazja;
- Koch, Catherine;
- Baranello, Giovanni;
- Mora, Marina;
- Ripolone, Michela;
- Violano, Raffaella;
- Moggio, Maurizio;
- Kingston, Helen;
- Dawson, Timothy;
- DeGoede, Christian G.;
- Nixon, John;
- Boland, Anne;
- Deleuze, Jean‐François;
- Romero, Norma
Publication type:
Article
Predicting Severity of Disease-Causing Variants.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 357, doi. 10.1002/humu.23173
By:
- Niroula, Abhishek;
- Vihinen, Mauno
Publication type:
Article
Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 439, doi. 10.1002/humu.23174
By:
- Yeung, Kak K.;
- Bogunovic, Natalija;
- Keekstra, Niels;
- Beunders, Adriaan A.M.;
- Pals, Jorrit;
- Kuij, Kim;
- Overwater, Eline;
- Wisselink, Willem;
- Blankensteijn, Jan D.;
- Hinsbergh, Victor W.M.;
- Musters, Rene J.P.;
- Pals, Gerard;
- Micha, Dimitra;
- Zandieh‐Doulabi, Behrouz
Publication type:
Article
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 339, doi. 10.1002/humu.23163
By:
- Soussi, Thierry;
- Taschner, Peter E.M.;
- Samuels, Yardena
Publication type:
Article
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 365, doi. 10.1002/humu.23192
By:
- Janecke, Andreas R.;
- Xu, Ruijuan;
- Steichen‐Gersdorf, Elisabeth;
- Waldegger, Siegfried;
- Entenmann, Andreas;
- Giner, Thomas;
- Krainer, Iris;
- Huber, Lukas A;
- Hess, Michael W;
- Frishberg, Yaacov;
- Barash, Hila;
- Tzur, Shay;
- Schreyer‐Shafir, Nira;
- Sukenik–Halevy, Rivka;
- Zehavi, Tania;
- Raas‐Rothschild, Annick;
- Mao, Cungui;
- Müller, Thomas
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 333, doi. 10.1002/humu.23076
Publication type:
Article
Cover Image, Volume 38, Issue 4.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. i, doi. 10.1002/humu.23215
By:
- Pannone, Luca;
- Bocchinfuso, Gianfranco;
- Flex, Elisabetta;
- Rossi, Cesare;
- Baldassarre, Giuseppina;
- Lissewski, Christina;
- Pantaleoni, Francesca;
- Consoli, Federica;
- Lepri, Francesca;
- Magliozzi, Monia;
- Anselmi, Massimiliano;
- Delle Vigne, Silvia;
- Sorge, Giovanni;
- Karaer, Kadri;
- Cuturilo, Goran;
- Sartorio, Alessandro;
- Tinschert, Sigrid;
- Accadia, Maria;
- Digilio, Maria C.;
- Zampino, Giuseppe
Publication type:
Article
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 451, doi. 10.1002/humu.23175
By:
- Pannone, Luca;
- Bocchinfuso, Gianfranco;
- Flex, Elisabetta;
- Rossi, Cesare;
- Baldassarre, Giuseppina;
- Lissewski, Christina;
- Pantaleoni, Francesca;
- Consoli, Federica;
- Lepri, Francesca;
- Magliozzi, Monia;
- Anselmi, Massimiliano;
- Delle Vigne, Silvia;
- Sorge, Giovanni;
- Karaer, Kadri;
- Cuturilo, Goran;
- Sartorio, Alessandro;
- Tinschert, Sigrid;
- Accadia, Maria;
- Digilio, Maria C.;
- Zampino, Giuseppe
Publication type:
Article
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 343, doi. 10.1002/humu.23164
By:
- Nellen, Ruud G.L.;
- Steijlen, Peter M.;
- Steensel, Maurice A.M.;
- Vreeburg, Maaike;
- Frank, Jorge;
- Geel, Michel
Publication type:
Article
Overstressed response to EIF2S3 variants in MEHMO syndrome.
Published in:
2017
By:
- Michaud, Jacques L.
Publication type:
Editorial
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 400, doi. 10.1002/humu.23165
By:
- Cornelis, Stéphanie S.;
- Bax, Nathalie M.;
- Zernant, Jana;
- Allikmets, Rando;
- Fritsche, Lars G.;
- den Dunnen, Johan T.;
- Ajmal, Muhammad;
- Hoyng, Carel B.;
- Cremers, Frans P.M.
Publication type:
Article
Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 460, doi. 10.1002/humu.23169
By:
- Oetting, William S.;
- Béroud, Christophe;
- Brenner, Steven E.;
- Greenblatt, Marc;
- Karchin, Rachel;
- Mooney, Sean D.;
- Sunyaev, Shamir
Publication type:
Article