His primary scientific interests are in Genetics, Retinitis pigmentosa, Gene, Mutation and Missense mutation. His is involved in several facets of Genetics study, as is seen by his studies on Exon, Candidate gene, Frameshift mutation, CRB1 and Allele. Frans P.M. Cremers has researched Retinitis pigmentosa in several fields, including Retinal degeneration, Stargardt disease, Genetic heterogeneity and Genotype.
His Gene research is multidisciplinary, incorporating perspectives in Extracellular and Molecular biology. His work deals with themes such as Ciliary transition zone, RPGRIP1L and Cilium, which intersect with Mutation. His Missense mutation research incorporates themes from Achromatopsia, GNAT2 and Compound heterozygosity.
His primary areas of study are Genetics, Retinitis pigmentosa, Gene, Mutation and Missense mutation. His Genetics study frequently draws connections to adjacent fields such as Molecular biology. His Retinitis pigmentosa research incorporates elements of Retinal degeneration, Genetic heterogeneity and Electroretinography.
Frans P.M. Cremers frequently studies issues relating to CRB1 and Mutation. His biological study deals with issues like Compound heterozygosity, which deal with fields such as Proband. Frans P.M. Cremers interconnects Nonsense mutation, Single-nucleotide polymorphism, Mutation and Frameshift mutation in the investigation of issues within Disease gene identification.
Frans P.M. Cremers focuses on Genetics, Stargardt disease, Retinitis pigmentosa, ABCA4 and Gene. Genetics is a component of his Allele, Exome sequencing, splice, Proband and Exon studies. His research investigates the connection between Stargardt disease and topics such as Missing heritability problem that intersect with problems in Genomics.
His Retinitis pigmentosa study integrates concerns from other disciplines, such as Sanger sequencing, Visual acuity, Compound heterozygosity and Retinal degeneration. His ABCA4 research integrates issues from Cone-Rod Dystrophy, Late onset, Locus and Progenitor cell. His research integrates issues of Alu element and Mendelian inheritance in his study of Mutation.
Frans P.M. Cremers mainly investigates Genetics, Retinitis pigmentosa, Gene, Stargardt disease and ABCA4. His study in Genetics concentrates on Allele, Exon, Mutation, Exome sequencing and Missense mutation. The various areas that Frans P.M. Cremers examines in his Mutation study include Intronic Mutation, Rab and Choroideremia.
The concepts of his Retinitis pigmentosa study are interwoven with issues in Dystrophy, Genetic heterogeneity and Visual acuity. His work in the fields of splice, RNA splicing and Phenotype overlaps with other areas such as GRIN2B. His studies in ABCA4 integrate themes in fields like Penetrance, Proband and Allele frequency.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
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
Frans P. M. Cremers;Dorien J. R. van de Pol;Marc van Driel;Anneke 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)
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
Anneke I. den Hollander;John R. Heckenlively;L. Ingeborgh van den Born;Yvette J.M. de Kok.
American Journal of Human Genetics (2001)
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.
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
U. Schwahn;S. Lenzner;J Dong;S. Feil.
Nature Genetics (1998)
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Alessandra Maugeri;B. Jeroen Klevering;Klaus Rohrschneider;Anita Blankenagel.
American Journal of Human Genetics (2000)
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: