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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Published in:
2018
By:
- Newton, Timothy;
- Allison, Rachel;
- Edgar, James R.;
- Lumb, Jennifer H.;
- Rodger, Catherine E.;
- Manna, Paul T.;
- Rizo, Tania;
- Kohl, Zacharias;
- Nygren, Anders O. H.;
- Arning, Larissa;
- Schüle, Rebecca;
- Depienne, Christel;
- Goldberg, Lisa;
- Frahm, Christiane;
- Stevanin, Giovanni;
- Durr, Alexandra;
- Schöls, Ludger;
- Winner, Beate;
- Beetz, Christian;
- Reid, Evan
Publication type:
journal article
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1315, doi. 10.1038/ejhg.2010.105
By:
- Meienberg, Janine;
- Rohrbach, Marianne;
- Neuenschwander, Stefan;
- Spanaus, Katharina;
- Giunta, Cecilia;
- Alonso, Sira;
- Arnold, Eliane;
- Henggeler, Caroline;
- Regenass, Stephan;
- Patrignani, Andrea;
- Azzarello-Burri, Silvia;
- Steiner, Bernhard;
- Nygren, Anders O. H.;
- Carrel, Thierry;
- Steinmann, Beat;
- Mátyás, Gábor
Publication type:
Article
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1276, doi. 10.1038/sj.ejhg.5201924
By:
- Mitne-Neto, Miguel;
- Kok, Fernando;
- Beetz, Christian;
- Pessoa, André;
- Bueno, Clarissa;
- Graciani, Zodja;
- Martyn, Marcilia;
- Monteiro, Carlos B. M.;
- Mitne, Guilherme;
- Hubert, Paulo;
- Nygren, Anders O. H.;
- Valadares, Marcos;
- Cerqueira, Antonia M. P.;
- Starling, Alessandra;
- Deufel, Thomas;
- Zatz, Mayana
Publication type:
Article
Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.
Published in:
Nucleic Acids Research, 2005, v. 33, n. 22, p. e188, doi. 10.1093/nar/gni187
By:
- Langerak, Petra;
- Nygren, Anders O. H.;
- Schouten, Jan P.;
- Jacobs, Heinz
Publication type:
Article
Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
Published in:
Nucleic Acids Research, 2005, v. 33, n. 14, p. e128, doi. 10.1093/nar/gni127
By:
- Nygren, Anders O. H.;
- Ameziane, Najim;
- Duarte, Helena M. B.;
- Vijzelaar, Raymon N. C. P.;
- Waisfisz, Quinten;
- Hess, Corine J.;
- Schouten, Jan P.;
- Errami, Abdellatif
Publication type:
Article
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
Published in:
Movement Disorders, 2007, v. 22, n. 12, p. 1708, doi. 10.1002/mds.21370
By:
- Djarmati, Ana;
- Gužvić, Miodrag;
- Grünewald, Anne;
- Lang, Anthony E.;
- Pramstaller, Peter P.;
- Simon, David K.;
- Kaindl, Angela M.;
- Vieregge, Peter;
- Nygren, Anders O. H.;
- Beetz, Christian;
- Hedrich, Katja;
- Klein, Christine
Publication type:
Article

Found: 6

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.

Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.