Sten Andréasson - Concepedia

Author

Sten Andréasson

Also Known As

Andreasson, S, Andréasson, LCA5 Study Group (see Acknowledgments for Universities):, S Andreasson, S Andréasson, S. ANDRÉASSON, Md, S. Andreasson, S. Andréasson, S., Andréasson, STEN ANDREASSON

248

Publications

6.6K

Citations

H-Index

119

Concepts

All Affiliations

Lund University University of Michigan Radboud University Nijmegen Skåne University Hospital Penn Presbyterian Medical Center

About

Sten Andréasson is an author at Lund University specializing in medicine, genetics, and ophthalmology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	36	3.4K
2	Engineering	9	9	322
3	Natural Sciences	3	3	235
4	Health Sciences	1	1	33
5	Language Studies	1	1	40

Sten Andréasson

127

Publications

6.3K

Citations

H-Index

Page 1

	Year	Citations
Identification of the gene responsible for Best macular dystrophy Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall, Nature Genetics Ocular DiseaseOphthalmologyGeneticsBest Macular DystrophyMedicine	1998	679
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders Bernd Wissinger, Daphne Gamer, Herbert Jägle, The American Journal of Human Genetics Photoreceptor CellOphthalmologyGenetic DisorderGeneticsCnga3 Mutations	2001	321
Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis Thaddeus P. Dryja, Scott M. Adams, Jonna Grimsby, The American Journal of Human Genetics Allelic VariantMendelian DisorderGenetic DisorderGeneticsPathology	2001	283
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein Carsten M. Pusch, Christina Zeitz, Oliver Brandau, Nature Genetics Developmental AnomalyMendelian DisorderOphthalmologyGenetic DisorderGenetics	2000	259
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia Susanne Kohl, Balázs Varsányi, Gesine Abadin Antunes, European Journal of Human Genetics Autosomal Recessive AchromatopsiaMendelian DisorderGenetic DisorderGeneticsClinical Genetics	2004	244
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Charles E. Schwartz, H Eriksen, Sten Andréasson, Journal of Medical Genetics New XExtensive CharacterisationIsolated DeafnessDevelopmental DelayMendelian Disorder	1995	185
A homologous genetic basis of the murine <i>cpfl1</i> mutant and human achromatopsia linked to mutations in the <i>PDE6C</i> gene Bo Chang, Tanja Grau, Susann Dangel, Proceedings of the National Academy of Sciences Retinal Cone PhotoreceptorsPhotoreceptor CellSignal TransductionRetinaOphthalmology	2009	184
Mutations in<i>RPGR</i>and<i>RP2</i>Account for 15% of Males with Simplex Retinal Degenerative Disease Kari Branham, Mohammad Othman, Matthew Brumm, Investigative Ophthalmology & Visual Science	2012	126
Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration James S. Friedman, Bo Chang, Chitra Kannabiran, The American Journal of Human Genetics Novel ProteinProtein FunctionSignal TransductionMolecular RegulationNatural Sciences	2006	118
The mutation spectrum of the bestrophin protein - functional implications Benjamin Bakall, Towa Marknell, Sofie Ingvast, Human Genetics Protein FunctionMedicineGeneticsNatural SciencesProtein Evolution	1999	106

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