Frans P.M. Cremers merges Gene with Nonsense mutation in his research. His study in Dystrophy extends to Genetics with its themes. In his work, Frans P.M. Cremers performs multidisciplinary research in Mutation and Mutant. He combines Mutant and Mutation in his research. Phenotype and Genetic heterogeneity are two areas of study in which Frans P.M. Cremers engages in interdisciplinary research. In his works, he undertakes multidisciplinary study on Genetic heterogeneity and Phenotype. He applies his multidisciplinary studies on Retinitis pigmentosa and Retinal degeneration in his research. He undertakes multidisciplinary investigations into Retinal degeneration and Retina in his work. He undertakes interdisciplinary study in the fields of Retina and Retinitis pigmentosa through his works.
Frans P.M. Cremers's looking at Mutation as part of his Missense mutation, Exome sequencing, Proband and Compound heterozygosity and Mutation study. Retinitis pigmentosa and Electroretinography are inextricably linked to his Retinal research. His Ophthalmology research overlaps with Electroretinography and Visual acuity. His work blends Visual acuity and Ophthalmology studies together. Frans P.M. Cremers integrates many fields, such as Genetics and Phenotype, in his works. His Phenotype study frequently draws connections to adjacent fields such as ABCA4. Frans P.M. Cremers undertakes interdisciplinary study in the fields of Gene and Compound heterozygosity through his research. His work blends Allele and Mutation studies together. He undertakes multidisciplinary investigations into Stargardt disease and ABCA4 in his work.
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Leber congenital amaurosis: genes, proteins and disease mechanisms.
Anneke I. den Hollander;Ronald Roepman;Robert K. Koenekoop;Frans P.M. Cremers.
Progress in Retinal and Eye Research (2008)
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
Robert E MacLaren;Robert E MacLaren;Markus Groppe;Markus Groppe;Alun R Barnard;Charles L Cottriall.
The Lancet (2014)
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Anneke I. den Hollander;Robert K. Koenekoop;Suzanne Yzer;Irma Lopez.
American Journal of Human Genetics (2006)
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
F.P.M. Cremers;T.J.R. van de Pol;M.A. van Driel;A.I. den Hollander.
Human Molecular Genetics (1998)
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
Y. J. M. De Kok;S. M. Van Der Maarel;M. Bitner-Glindzicz;I. Huber.
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
A.I. den Hollander;J.B. ten Brink;Y.J.M. de Kok;S. van Soest.
Nature Genetics (1999)
Positional cloning of the gene for X-linked retinitis pigmentosa 2
U. Schwahn;S. Lenzner;J Dong;S. Feil.
Nature Genetics (1998)
Cloning of a gene that is rearranged in patients with choroideraemia.
Frans P. M. Cremers;Dorien J. R. van de Pol;Liesbeth P. M. van Kerkhoff;Berend Wieringa.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi.
Nature Genetics (2007)
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot.
Human Mutation (2013)
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