Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 3

Results: 20

Rare LRP6 Variants Identified in Spina Bifida Patients.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 342, doi. 10.1002/humu.22750
By:
- Lei, Yunping;
- Fathe, Kristin;
- McCartney, Danielle;
- Zhu, Huiping;
- Yang, Wei;
- Ross, M. Elizabeth;
- Shaw, Gary M.;
- Finnell, Richard H.
Publication type:
Article
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
By:
- Caciotti, Anna;
- Tonin, Rodolfo;
- Rigoldi, Miriam;
- Ferri, Lorenzo;
- Catarzi, Serena;
- Cavicchi, Catia;
- Procopio, Elena;
- Donati, Maria Alice;
- Ficcadenti, Anna;
- Fiumara, Agata;
- Barone, Rita;
- Garavelli, Livia;
- Rocco, Maja Di;
- Filocamo, Mirella;
- Antuzzi, Daniela;
- Scarpa, Maurizio;
- Mooney, Sean D.;
- Li, Biao;
- Skouma, Anastasia;
- Bianca, Sebastiano
Publication type:
Article
Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 389, doi. 10.1002/humu.22752
By:
- Samuels, Mark E.;
- Alos, Nathalie;
- Deal, Cheri L.
Publication type:
Article
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 388, doi. 10.1002/humu.22753
By:
- Mordaunt, Dylan A.;
- Savaririyan, Ravi
Publication type:
Article
Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 369, doi. 10.1002/humu.22754
By:
- Hazlewood, Ralph J.;
- Roos, Benjamin R.;
- Solivan‐Timpe, Frances;
- Honkanen, Robert A.;
- Jampol, Lee M.;
- Gieser, Stephen C.;
- Meyer, Kacie J.;
- Mullins, Robert F.;
- Kuehn, Markus H.;
- Scheetz, Todd E.;
- Kwon, Young H.;
- Alward, Wallace L.M.;
- Stone, Edwin M.;
- Fingert, John H.
Publication type:
Article
Germline & Somatic Mosaicism: The 2014 Annual Scientific Meeting of the Human Genome Variation Society.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 390, doi. 10.1002/humu.22757
By:
- Oetting, William S.;
- Greenblatt, Marc S.;
- Brookes, Anthony J.;
- Karchin, Rachel;
- Mooney, Sean D.
Publication type:
Article
Somatic MMR Gene Mutations as a Cause for MSI- H Sebaceous Neoplasms in Muir-Torre Syndrome-Like Patients.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 292, doi. 10.1002/humu.22740
By:
- Joly, Marie‐Odile;
- Attignon, Valéry;
- Saurin, Jean‐Christophe;
- Desseigne, Françoise;
- Leroux, Dominique;
- Martin‐Denavit, Tanguy;
- Giraud, Sophie;
- Bonnet‐Dupeyron, Marie‐Noëlle;
- Faivre, Laurence;
- Auclair, Jessie;
- Grand‐Masson, Chloé;
- Audoynaud, Carole;
- Wang, Qing
Publication type:
Article
Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 296, doi. 10.1002/humu.22741
By:
- Islam, Lily;
- Kelberman, Daniel;
- Williamson, Laura;
- Lewis, Nicola;
- Glindzicz, Maria Bitner;
- Nischal, Ken K.;
- Sowden, Jane C.
Publication type:
Article
Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 319, doi. 10.1002/humu.22742
By:
- Opstal, Diane;
- Vries, Femke;
- Govaerts, Lutgarde;
- Boter, Marjan;
- Lont, Debora;
- Veen, Stefanie;
- Joosten, Marieke;
- Diderich, Karin;
- Galjaard, Robert‐Jan;
- Srebniak, Malgorzata I.
Publication type:
Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 301, doi. 10.1002/humu.22743
By:
- Saunders, Carol J.;
- Moon, Sung Ho;
- Liu, Xinping;
- Thiffault, Isabelle;
- Coffman, Keith;
- LePichon, Jean‐Baptiste;
- Taboada, Eugenio;
- Smith, Laurie D.;
- Farrow, Emily G.;
- Miller, Neil;
- Gibson, Margaret;
- Patterson, Melanie;
- Kingsmore, Stephen F.;
- Gross, Richard W.
Publication type:
Article
Novel Mutations in the DYNC1 H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 287, doi. 10.1002/humu.22744
By:
- Peeters, Kristien;
- Bervoets, Sven;
- Chamova, Teodora;
- Litvinenko, Ivan;
- Vriendt, Els;
- Bichev, Stoyan;
- Kancheva, Dahlia;
- Mitev, Vanyo;
- Kennerson, Marina;
- Timmerman, Vincent;
- Jonghe, Peter;
- Tournev, Ivailo;
- MacMillan, John;
- Jordanova, Albena
Publication type:
Article
Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 327, doi. 10.1002/humu.22745
By:
- Kagawa, Tatehiro;
- Oka, Akira;
- Kobayashi, Yoshinao;
- Hiasa, Yoichi;
- Kitamura, Tsuneo;
- Sakugawa, Hiroshi;
- Adachi, Yukihiko;
- Anzai, Kazuya;
- Tsuruya, Kota;
- Arase, Yoshitaka;
- Hirose, Shunji;
- Shiraishi, Koichi;
- Shiina, Takashi;
- Sato, Tadayuki;
- Wang, Ting;
- Tanaka, Masayuki;
- Hayashi, Hideki;
- Kawabe, Noboru;
- Robinson, Peter N.;
- Zemojtel, Tomasz
Publication type:
Article
Gene Conversion Between Cationic Trypsinogen ( PRSS1) and the Pseudogene Trypsinogen 6 ( PRSS3P2) in Patients with Chronic Pancreatitis.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 350, doi. 10.1002/humu.22747
By:
- Rygiel, Agnieszka Magdalena;
- Beer, Sebastian;
- Simon, Peter;
- Wertheim‐Tysarowska, Katarzyna;
- Oracz, Grzegorz;
- Kucharzik, Torsten;
- Tysarowski, Andrzej;
- Niepokój, Katarzyna;
- Kierkus, Jarosław;
- Jurek, Marta;
- Gawliński, Paweł;
- Poznański, Jarosław;
- Bal, Jerzy;
- Lerch, Markus M.;
- Sahin‐Tóth, Miklós;
- Weiss, Frank Ulrich
Publication type:
Article
Can We Afford to Sequence Every Newborn Baby's Genome?
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 283, doi. 10.1002/humu.22748
By:
- Beckmann, Jacques S.
Publication type:
Article
Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 333, doi. 10.1002/humu.22749
By:
- Zhu, Wenjuan;
- Cooper, David N.;
- Zhao, Qiang;
- Wang, Ye;
- Liu, Ruihong;
- Li, Qibin;
- Férec, Claude;
- Wang, Yiming;
- Chen, Jian‐Min
Publication type:
Article
A New Spin on Digenic Inheritance: Retrotransposition in Rotor Syndrome.
Published in:
2015
By:
- Kazazian, Haig H.
Publication type:
Other
Towards Replacement of Sanger Sequencing with Next-Generation Sequencing in the Clinical Laboratory.
Published in:
2015
By:
- Claustres, Mireille
Publication type:
Other
Contents.
Published in:
2015
Publication type:
Other
Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 307, doi. 10.1002/humu.22738
By:
- Narasimhan, Vijayashankaranarayanan;
- Hjeij, Rim;
- Vij, Shubha;
- Loges, Niki Tomas;
- Wallmeier, Julia;
- Koerner‐Rettberg, Cordula;
- Werner, Claudius;
- Thamilselvam, Surin Kumar;
- Boey, Adrian;
- Choksi, Semil P.;
- Pennekamp, Petra;
- Roy, Sudipto;
- Omran, Heymut
Publication type:
Article
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 379, doi. 10.1002/humu.22739
By:
- Leeneer, Kim;
- Hellemans, Jan;
- Steyaert, Wouter;
- Lefever, Steve;
- Vereecke, Inge;
- Debals, Eveline;
- Crombez, Brecht;
- Baetens, Machteld;
- Heetvelde, Mattias;
- Coppieters, Frauke;
- Vandesompele, Jo;
- Jaegher, Annelies;
- Baere, Elfride;
- Coucke, Paul;
- Claes, Kathleen
Publication type:
Article