Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

ανά den Hollander, Anneke I., Black, Aaron, Bennett, Jean, Cremers, Frans P.M.
Έκδοση 2010

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

ανά den Hollander, Anneke I., Black, Aaron, Bennett, Jean, Cremers, Frans P.M.
Έκδοση 2010

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

ανά Cremers, Frans P. M., Boon, Camiel J. F., Bujakowska, Kinga, Zeitz, Christina
Τόπος έκδοσης Genes (Basel) (2018)

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

ανά Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando
Τόπος έκδοσης Prog Retin Eye Res (2020)

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

ανά de Bruijn, Suzanne E., Fadaie, Zeinab, Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne
Τόπος έκδοσης Int J Mol Sci (2021)

Genomic Approaches For the Discovery of Genes Mutated in Inherited Retinal Degeneration

ανά Siemiatkowska, Anna M., Collin, Rob W.J., den Hollander, Anneke I., Cremers, Frans P.M.
Έκδοση 2014

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly

ανά Karjosukarso, Dyah W., Cremers, Frans P. M., van Nouhuys, C. Erik, Collin, Rob W. J.
Τόπος έκδοσης Eur J Hum Genet (2018)

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

ανά Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro
Τόπος έκδοσης Int J Mol Sci (2021)

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

ανά Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Τόπος έκδοσης PLoS One (2018)

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

ανά Tayebi, Naeimeh, Akinrinade, Oyediran, Khan, Muhammad Imran, Hejazifar, Arash, Dehghani, Alireza, Cremers, Frans P.M., Akhlaghi, Mohammadreza
Τόπος έκδοσης Mol Vis (2019)

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

ανά Ghofrani, Mohammad, Yahyaei, Mahin, Brunner, Han G., Cremers, Frans P.M., Movasat, Morteza, Khan, Muhammad Imran, Keramatipour, Mohammad
Τόπος έκδοσης Iran Biomed J (2017)

Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

ανά Cremers, Frans P. M., den Dunnen, Johan T., Ajmal, Muhammad, Hussain, Alamdar, Preising, Markus N., Daiger, Stephen P., Qamar, Raheel
Έκδοση 2014

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

ανά Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Έκδοση 2013

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease

ανά Waheed, Nadia K., Qavi, Ahmed H., Malik, Sarah N., Maria, Maleeha, Riaz, Moeen, Cremers, Frans P. M., Azam, Maleeha, Qamar, Raheel
Έκδοση 2012

The Molecular Basis of Retinal Dystrophies in Pakistan

ανά Khan, Muhammad Imran, Azam, Maleeha, Ajmal, Muhammad, Collin, Rob W. J., den Hollander, Anneke I., Cremers, Frans P. M., Qamar, Raheel
Έκδοση 2014

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

ανά Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P. M.
Έκδοση 2000

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

ανά Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.
Έκδοση 2012

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

ανά Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Τόπος έκδοσης Hum Mutat (2019)

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

ανά Verbakel, Sanne K., Fadaie, Zeinab, Klevering, B. Jeroen, van Genderen, Maria M., Feenstra, Ilse, Cremers, Frans P. M., Hoyng, Carel B., Roosing, Susanne
Τόπος έκδοσης Mol Genet Genomic Med (2019)

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

ανά Paun, Codrut C., Pijl, Benjamin J., Siemiatkowska, Anna M., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I.
Έκδοση 2012