Works in Molecular Genetics & Genomic Medicine, 2017, Vol 5, Issue 4

Results: 15

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 360, doi. 10.1002/mgg3.293

By:

Pilonetto, Daniela V.;
Pereira, Noemi F.;
Bonfim, Carmem M. S.;
Ribeiro, Lisandro L.;
Bitencourt, Marco A.;
Kerkhoven, Lianne;
Floor, Karijn;
Ameziane, Najim;
Joenje, Hans;
Gille, Johan J. P.;
Pasquini, Ricardo

Publication type:

Article

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 373, doi. 10.1002/mgg3.294

By:

Gaildrat, Pascaline;
Lebbah, Said;
Tebani, Abdellah;
Sudrié‐Arnaud, Bénédicte;
Tostivint, Isabelle;
Bollee, Guillaume;
Tubeuf, Hélène;
Charles, Thomas;
Bertholet‐Thomas, Aurelia;
Goldenberg, Alice;
Barbey, Frederic;
Martins, Alexandra;
Saugier‐Veber, Pascale;
Frébourg, Thierry;
Knebelmann, Bertrand;
Bekri, Soumeya

Publication type:

Article

Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 443, doi. 10.1002/mgg3.295

By:

Silva, Felipe Carneiro;
Torrezan, Giovana Tardin;
Brianese, Rafael Canfield;
Stabellini, Raquel;
Carraro, Dirce Maria

Publication type:

Article

Targeting breast cancer outcomes-what about the primary relatives?

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 317, doi. 10.1002/mgg3.286

By:

Johnston, Alison;
Sugrue, Michael

Publication type:

Article

Commentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 305, doi. 10.1002/mgg3.288

By:

Miranda, Marcelo;
Bustamante, María Leonor

Publication type:

Article

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 429, doi. 10.1002/mgg3.289

By:

Shimbo, Hiroko;
Yokoi, Takayuki;
Aida, Noriko;
Mizuno, Seiji;
Suzumura, Hiroshi;
Nagai, Junichi;
Ida, Kazumi;
Enomoto, Yumi;
Hatano, Chihiro;
Kurosawa, Kenji

Publication type:

Article

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 410, doi. 10.1002/mgg3.300

By:

Garland, Jennifer;
Stephen, Joshi;
Class, Bradley;
Gruber, Angela;
Ciccone, Carla;
Poliak, Aaron;
Hayes, Christina P.;
Singhal, Vandana;
Slota, Christina;
Perreault, John;
Gavrilova, Ralitza;
Shrader, Joseph A.;
Chittiboina, Prashant;
Joe, Galen;
Heiss, John;
Gahl, William A.;
Huizing, Marjan;
Carrillo, Nuria;
Malicdan, May Christine V.

Publication type:

Article

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 418, doi. 10.1002/mgg3.302

By:

Garton, Fleur C.;
Benyamin, Beben;
Zhao, Qiongyi;
Liu, Zhijun;
Gratten, Jacob;
Henders, Anjali K.;
Zhang, Zong‐Hong;
Edson, Janette;
Furlong, Sarah;
Morgan, Sarah;
Heggie, Susan;
Thorpe, Kathryn;
Pfluger, Casey;
Mather, Karen A.;
Sachdev, Perminder S.;
McRae, Allan F.;
Robinson, Matthew R.;
Shah, Sonia;
Visscher, Peter M.;
Mangelsdorf, Marie

Publication type:

Article

Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 323, doi. 10.1002/mgg3.290

By:

Shah, Mohd Hussain;
Tabanera, Noemi;
Krishnadas, Subbaiah Ramasamy;
Pillai, Manju R.;
Bovolenta, Paola;
Sundaresan, Periasamy

Publication type:

Article

A novel molecular diagnostics platform for somatic and germline precision oncology.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 336, doi. 10.1002/mgg3.291

By:

Cabanillas, Rubén;
Diñeiro, Marta;
Castillo, David;
Pruneda, Patricia C.;
Penas, Cristina;
Cifuentes, Guadalupe A.;
Vicente, Álvaro;
Durán, Noelia S.;
Álvarez, Rebeca;
Ordóñez, Gonzalo R.;
Cadiñanos, Juan

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 303, doi. 10.1002/mgg3.242
Publication type:: Article

Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 438, doi. 10.1002/mgg3.292

By:

Mignani, Renzo;
Moschella, Mariarita;
Cenacchi, Giovanna;
Donati, Ilaria;
Flachi, Marta;
Grimaldi, Daniela;
Cerretani, Davide;
Giovanni, Paola De;
Montevecchi, Marcello;
Rigotti, Angelo;
Ravasio, Alessandro

Publication type:

Article

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 390, doi. 10.1002/mgg3.296

By:

Chen, Jian‐Hua;
Geberhiwot, Tarekegn;
Barrett, Timothy G.;
Paisey, Richard;
Semple, Robert K.

Publication type:

Article

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 405, doi. 10.1002/mgg3.297

By:

Zarina, Agnese;
Tolmane, Ieva;
Kreile, Madara;
Chernushenko, Aleksandrs;
Cernevska, Gunta;
Pukite, Ieva;
Micule, Ieva;
Krumina, Zita;
Krumina, Astrida;
Rozentale, Baiba;
Piekuse, Linda

Publication type:

Article

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 307, doi. 10.1002/mgg3.318

By:

Ferreira, Carlos R.;
Regier, Debra S.;
Hadley, Donald W.;
Hart, P. Suzanne;
Muenke, Maximilian

Publication type:

Article