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Frans Cremers

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Cremers Frans P M; Collin Rob W J
Promises and challenges of genetic therapy for blindness.
Vermeer Sascha; Meijer Rowdy P P; Hofste Tom G J; Bodmer Daniëlle; Bosgoed Ermanno A J; Cremers Frans P M; Kremer Berry H P; Knoers Nine V A M; Scheffer Hans
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Coene Karlien L M; Roepman Ronald; Doherty Dan; Afroze Bushra; Kroes Hester Y; Letteboer Stef J F; Ngu Lock H; Budny Bartlomiej; van Wijk Erwin; Gorden Nicholas T; Azhimi Malika; Thauvin-Robinet Christel; Veltman Joris A; Boink Mireille; Kleefstra Tjitske; Cremers Frans P M; van Bokhoven Hans; de Brouwer Arjan P M
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

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All Publications

2009: Cremers Frans P M; Collin Rob W J
Promises and challenges of genetic therapy for blindness.
Lancet 2009;374(9701):1569-70.
2009: Vermeer Sascha; Meijer Rowdy P P; Hofste Tom G J; Bodmer Daniëlle; Bosgoed Ermanno A J; Cremers Frans P M; Kremer Berry H P; Knoers Nine V A M; Scheffer Hans
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
The Journal of molecular diagnostics : JMD 2009;11(6):514-23.
2009: Coene Karlien L M; Roepman Ronald; Doherty Dan; Afroze Bushra; Kroes Hester Y; Letteboer Stef J F; Ngu Lock H; Budny Bartlomiej; van Wijk Erwin; Gorden Nicholas T; Azhimi Malika; Thauvin-Robinet Christel; Veltman Joris A; Boink Mireille; Kleefstra Tjitske; Cremers Frans P M; van Bokhoven Hans; de Brouwer Arjan P M
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics 2009;85(4):465-81.
2009: Thiadens Alberta A H J; Slingerland Niki W R; Roosing Susanne; van Schooneveld Mary J; van Lith-Verhoeven Janneke J C; van Moll-Ramirez Norka; van den Born L Ingeborgh; Hoyng Carel B; Cremers Frans P M; Klaver Caroline C W
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Ophthalmology 2009;116(10):1984-9.e1.
2009: Boonstra F Nienke; van Nouhuys C Erik; Schuil José; de Wijs Ilse J; van der Donk Kim P; Nikopoulos Kostas; Mukhopadhyay Arijit; Scheffer Hans; Tilanus Mauk A D; Cremers Frans P M; Hoefsloot Lies H
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science 2009;50(9):4379-85.
2009: Thiadens Alberta A H J; den Hollander Anneke I; Roosing Susanne; Nabuurs Sander B; Zekveld-Vroon Renate C; Collin Rob W J; De Baere Elfride; Koenekoop Robert K; van Schooneveld Mary J; Strom Tim M; van Lith-Verhoeven Janneke J C; Lotery Andrew J; van Moll-Ramirez Norka; Leroy Bart P; van den Born L Ingeborgh; Hoyng Carel B; Cremers Frans P M; Klaver Caroline C W
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
American journal of human genetics 2009;85(2):240-7.
2009: Boon Camiel J F; Theelen Thomas; Hoefsloot Elisabeth H; van Schooneveld Mary J; Keunen Jan E E; Cremers Frans P M; Klevering B Jeroen; Hoyng Carel B
Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
Retina (Philadelphia, Pa.) 2009;29(6):835-47.
2009: Boon Camiel J F; van de Kar Nicole C; Klevering B Jeroen; Keunen Jan E E; Cremers Frans P M; Klaver Caroline C W; Hoyng Carel B; Daha Mohamed R; den Hollander Anneke I
The spectrum of phenotypes caused by variants in the CFH gene.
Molecular immunology 2009;46(8-9):1573-94.
2009: Littink Karin W; van Genderen Maria M; Collin Rob W J; Roosing Susanne; de Brouwer Arjan P M; Riemslag Frans C C; Venselaar Hanka; Thiadens Alberta A H J; Hoyng Carel B; Rohrschneider Klaus; den Hollander Anneke I; Cremers Frans P M; van den Born L Ingeborgh
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Investigative ophthalmology & visual science 2009;50(5):2344-50.
2009: Boon Camiel J F; Klevering B Jeroen; Cremers Frans P M; Zonneveld-Vrieling Marijke N; Theelen Thomas; Den Hollander Anneke I; Hoyng Carel B
Central areolar choroidal dystrophy.
Ophthalmology 2009;116(4):771-82, 782.e1.
2009: Arts Heleen H; Cremers Frans P M; Knoers Nine V A M; Roepman Ronald
Focus on molecules: RPGRIP1.
Experimental eye research 2009;88(3):332-3.
2009: Azam Maleeha; Collin Rob W J; Khan Muhammad Imran; Shah Syed Tahir Abbas; Qureshi Nadeem; Ajmal Muhammad; den Hollander Anneke I; Qamar Raheel; Cremers Frans P M
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
Molecular vision 2009;15():1788-93.
2009: Kremer Hannie; Cremers Frans P M
Positional cloning of deafness genes.
Methods in molecular biology (Clifton, N.J.) 2009;493():215-38.
2008: Collin Rob W J; Littink Karin W; Klevering B Jeroen; van den Born L Ingeborgh; Koenekoop Robert K; Zonneveld Marijke N; Blokland Ellen A W; Strom Tim M; Hoyng Carel B; den Hollander Anneke I; Cremers Frans P M
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
American journal of human genetics 2008;83(5):594-603.
2008: den Hollander Anneke I; Roepman Ronald; Koenekoop Robert K; Cremers Frans P M
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Progress in retinal and eye research 2008;27(4):391-419.
2008: Gosens Ilse; den Hollander Anneke I; Cremers Frans P M; Roepman Ronald
Composition and function of the Crumbs protein complex in the mammalian retina.
Experimental eye research 2008;86(5):713-26.
2008: Collin Rob W J; Chellappa Ramesh; Pauw Robert-Jan; Vriend Gert; Oostrik Jaap; van Drunen Wendy; Huygen Patrick L; Admiraal Ronald; Hoefsloot Lies H; Cremers Frans P M; Xiang Mengqing; Cremers Cor W R J; Kremer Hannie
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
Human mutation 2008;29(4):545-54.
2008: Boon Camiel J F; den Hollander Anneke I; Hoyng Carel B; Cremers Frans P M; Klevering B Jeroen; Keunen Jan E E
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.
Progress in retinal and eye research 2008;27(2):213-35.
2008: Boon Camiel J F; Klevering B Jeroen; Hoyng Carel B; Zonneveld-Vrieling Marijke N; Nabuurs Sander B; Blokland Ellen; Cremers Frans P M; den Hollander Anneke I
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
American journal of human genetics 2008;82(2):516-23.
2008: Collin Rob W J; Kalay Ersan; Tariq Muhammad; Peters Theo; van der Zwaag Bert; Venselaar Hanka; Oostrik Jaap; Lee Kwanghyuk; Ahmed Zubair M; Caylan Refik; Li Yun; Spierenburg Henk A; Eyupoglu Erol; Heister Angelien; Riazuddin Saima; Bahat Elif; Ansar Muhammad; Arslan Selcuk; Wollnik Bernd; Brunner Han G; Cremers Cor W R J; Karaguzel Ahmet; Ahmad Wasim; Cremers Frans P M; Vriend Gert; Friedman Thomas B; Riazuddin Sheikh; Leal Suzanne M; Kremer Hannie
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
American journal of human genetics 2008;82(1):125-38.
2008: Frank Valeska; den Hollander Anneke I; Brüchle Nadina Ortiz; Zonneveld Marijke N; Nürnberg Gudrun; Becker Christian; Du Bois Gabriele; Kendziorra Heide; Roosing Susanne; Senderek Jan; Nürnberg Peter; Cremers Frans P M; Zerres Klaus; Bergmann Carsten
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Human mutation 2008;29(1):45-52.
2008: Neidhardt John; Glaus Esther; Lorenz Birgit; Netzer Christian; Li Yün; Schambeck Maria; Wittmer Mariana; Feil Silke; Kirschner-Schwabe Renate; Rosenberg Thomas; Cremers Frans P M; Bergen Arthur A B; Barthelmes Daniel; Baraki Husnia; Schmid Fabian; Tanner Gaby; Fleischhauer Johannes; Orth Ulrike; Becker Christian; Wegscheider Erika; Nürnberg Gudrun; Nürnberg Peter; Bolz Hanno Jörn; Gal Andreas; Berger Wolfgang
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Molecular vision 2008;14():1081-93.
2007: Mukhopadhyay Arijit; Hogewind Barend F Th; Theelen Thomas; Cremers Frans P M; Hoyng Carel B
Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma.
Human genetics 2007;122(5):553.
2007: den Hollander Anneke I; Lopez Irma; Yzer Suzanne; Zonneveld Marijke N; Janssen Irene M; Strom Tim M; Hehir-Kwa Jayne Y; Veltman Joris A; Arends Maarten L; Meitinger Thomas; Musarella Maria A; van den Born L Ingeborgh; Fishman Gerald A; Maumenee Irene H; Rohrschneider Klaus; Cremers Frans P M; Koenekoop Robert K
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Investigative ophthalmology & visual science 2007;48(12):5690-8.
2007: Gosens Ilse; Sessa Alessandro; den Hollander Anneke I; Letteboer Stef J F; Belloni Valentina; Arends Maarten L; Le Bivic André; Cremers Frans P M; Broccoli Vania; Roepman Ronald
FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
Experimental cell research 2007;313(19):3959-70.
2007: Boon Camiel J F; van Schooneveld Mary J; den Hollander Anneke I; van Lith-Verhoeven Janneke J C; Zonneveld-Vrieling Marijke N; Theelen Thomas; Cremers Frans P M; Hoyng Carel B; Klevering B Jeroen
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
The British journal of ophthalmology 2007;91(11):1504-11.
2007: Koenekoop Robert K; Cremers Frans P M; den Hollander Anneke I
Leber congenital amaurosis: ciliary proteins on the move.
Ophthalmic genetics 2007;28(3):111-2.
2007: Boon Camiel J F; Klevering B Jeroen; den Hollander Anneke I; Zonneveld Marijke N; Theelen Thomas; Cremers Frans P M; Hoyng Carel B
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
Archives of ophthalmology 2007;125(8):1100-6.
2007: Gosens Ilse; van Wijk Erwin; Kersten Ferry F J; Krieger Elmar; van der Zwaag Bert; Märker Tina; Letteboer Stef J F; Dusseljee Simone; Peters Theo; Spierenburg Henk A; Punte Ingrid M; Wolfrum Uwe; Cremers Frans P M; Kremer Hannie; Roepman Ronald
MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
Human molecular genetics 2007;16(16):1993-2003.
2007: Koenekoop Robert K; Lopez Irma; den Hollander Anneke I; Allikmets Rando; Cremers Frans P M
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
Clinical & experimental ophthalmology 2007;35(5):473-85.
2007: den Hollander Anneke I; van Lith-Verhoeven Janneke J C; Arends Maarten L; Strom Tim M; Cremers Frans P M; Hoyng Carel B
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
Archives of ophthalmology 2007;125(7):932-5.
2007: Arts Heleen H; Doherty Dan; van Beersum Sylvia E C; Parisi Melissa A; Letteboer Stef J F; Gorden Nicholas T; Peters Theo A; Märker Tina; Voesenek Krysta; Kartono Aileen; Ozyurek Hamit; Farin Federico M; Kroes Hester Y; Wolfrum Uwe; Brunner Han G; Cremers Frans P M; Glass Ian A; Knoers Nine V A M; Roepman Ronald
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics 2007;39(7):882-8.
2007: van den Hurk José A J M; Meij Iwan C; Seleme Maria del Carmen; Kano Hiroki; Nikopoulos Konstantinos; Hoefsloot Lies H; Sistermans Erik A; de Wijs Ilse J; Mukhopadhyay Arijit; Plomp Astrid S; de Jong Paulus T V M; Kazazian Haig H; Cremers Frans P M
L1 retrotransposition can occur early in human embryonic development.
Human molecular genetics 2007;16(13):1587-92.
2007: Collin Rob W J; Kalay Ersan; Oostrik Jaap; Caylan Refik; Wollnik Bernd; Arslan Selçuk; den Hollander Anneke I; Birinci Yelda; Lichtner Peter; Strom Tim M; Toraman Bayram; Hoefsloot Lies H; Cremers Cor W R J; Brunner Han G; Cremers Frans P M; Karaguzel Ahmet; Kremer Hannie
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation 2007;28(7):718-23.
2007: Cremers Frans P M; Kimberling William J; Külm Maigi; de Brouwer Arjan P; van Wijk Erwin; te Brinke Heleen; Cremers Cor W R J; Hoefsloot Lies H; Banfi Sandro; Simonelli Francesca; Fleischhauer Johannes C; Berger Wolfgang; Kelley Phil M; Haralambous Elene; Bitner-Glindzicz Maria; Webster Andrew R; Saihan Zubin; De Baere Elfride; Leroy Bart P; Silvestri Giuliana; McKay Gareth J; Koenekoop Robert K; Millan Jose M; Rosenberg Thomas; Joensuu Tarja; Sankila Eeva-Marja; Weil Dominique; Weston Mike D; Wissinger Bernd; Kremer Hannie
Development of a genotyping microarray for Usher syndrome.
Journal of medical genetics 2007;44(2):153-60.
2007: Hogewind Barend F T; Gaplovska-Kysela Katarina; Theelen Thomas; Cremers Frans P M; Yam Gary H F; Hoyng Carel B; Mukhopadhyay Arijit
Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.
Molecular vision 2007;13():1793-801.
2007: Yzer Suzanne; van den Born L Ingeborgh; Zonneveld Marijke N; Lopez Irma; Ayyagari Radha; Teye-Botchway Leonard; Mota-Vieira Luisa; Cremers Frans P M; Koenekoop Robert K
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Molecular vision 2007;13():1568-72.
2006: Renner Agnes B; Kellner Ulrich; Cropp Elke; Preising Markus N; MacDonald Ian M; van den Hurk José A J M; Cremers Frans P M; Foerster Michael H
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Ophthalmology 2006;113(11):2066.e1-10.
2006: Richard Mélisande; Roepman Ronald; Aartsen Wendy M; van Rossum Agnes G S H; den Hollander Anneke I; Knust Elisabeth; Wijnholds Jan; Cremers Frans P M
Towards understanding CRUMBS function in retinal dystrophies.
Human molecular genetics 2006;15 Spec No 2():R235-43.
2006: Yzer Suzanne; Fishman Gerald A; Racine Julie; Al-Zuhaibi Sana; Chakor Hadi; Dorfman Allison; Szlyk Janet; Lachapelle Pierre; van den Born L Ingeborgh; Allikmets Rando; Lopez Irma; Cremers Frans P M; Koenekoop Robert K
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(9):3736-44.
2006: den Hollander Anneke I; Koenekoop Robert K; Yzer Suzanne; Lopez Irma; Arends Maarten L; Voesenek Krysta E J; Zonneveld Marijke N; Strom Tim M; Meitinger Thomas; Brunner Han G; Hoyng Carel B; van den Born L Ingeborgh; Rohrschneider Klaus; Cremers Frans P M
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
American journal of human genetics 2006;79(3):556-61.
2006: Mukhopadhyay Arijit; Nikopoulos Konstantinos; Maugeri Alessandra; de Brouwer Arjan P M; van Nouhuys C Eric; Boon Camiel J F; Perveen Rahat; Zegers Hester A A; Wittebol-Post Dienke; van den Biesen Pieter R; van der Velde-Visser Saskia D; Brunner Han G; Black Graeme C M; Hoyng Carel B; Cremers Frans P M
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Investigative ophthalmology & visual science 2006;47(8):3565-72.
2006: Kalay Ersan; Li Yun; Uzumcu Abdullah; Uyguner Oya; Collin Rob W; Caylan Refik; Ulubil-Emiroglu Melike; Kersten Ferry F J; Hafiz Gunter; van Wijk Erwin; Kayserili Hulya; Rohmann Edyta; Wagenstaller Janine; Hoefsloot Lies H; Strom Tim M; Nürnberg Gudrun; Baserer Nermin; den Hollander Anneke I; Cremers Frans P M; Cremers Cor W R J; Becker Christian; Brunner Han G; Nürnberg Peter; Karaguzel Ahmet; Basaran Seher; Kubisch Christian; Kremer Hannie; Wollnik Bernd
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Human mutation 2006;27(7):633-9.
2006: Yzer Suzanne; Leroy Bart P; De Baere Elfride; de Ravel Thomy J; Zonneveld Marijke N; Voesenek Krysta; Kellner Ulrich; Ciriano Jose P Martinez; de Faber Jan-Tjeerd H N; Rohrschneider Klaus; Roepman Ronald; den Hollander Anneke I; Cruysberg Johannes R; Meire Françoise; Casteels Ingele; van Moll-Ramirez Norka G; Allikmets Rando; van den Born L Ingeborgh; Cremers Frans P M
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(3):1167-76.
2006: van Wijk Erwin; van der Zwaag Bert; Peters Theo; Zimmermann Ulrike; Te Brinke Heleen; Kersten Ferry F J; Märker Tina; Aller Elena; Hoefsloot Lies H; Cremers Cor W R J; Cremers Frans P M; Wolfrum Uwe; Knipper Marlies; Roepman Ronald; Kremer Hannie
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
Human molecular genetics 2006;15(5):751-65.
2005: Roepman Ronald; Letteboer Stef J F; Arts Heleen H; van Beersum Sylvia E C; Lu Xinrong; Krieger Elmar; Ferreira Paulo A; Cremers Frans P M
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(51):18520-5.
2005: Kalay E; Karaguzel A; Caylan R; Heister A; Cremers F P M; Cremers C W R J; Brunner H G; de Brouwer A P M; Kremer H
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Human mutation 2005;26(6):591.
2005: Kalay E; de Brouwer A P M; Caylan R; Nabuurs S B; Wollnik B; Karaguzel A; Heister J G A M; Erdol H; Cremers F P M; Cremers C W R J; Brunner H G; Kremer H
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):1025-32.
2005: Zeitz Christina; van Genderen Maria; Neidhardt John; Luhmann Ulrich F O; Hoeben Frank; Forster Ursula; Wycisk Katharina; Mátyás Gábor; Hoyng Carel B; Riemslag Frans; Meire Françoise; Cremers Frans P M; Berger Wolfgang
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
Investigative ophthalmology & visual science 2005;46(11):4328-35.
2005: Yzer S; van den Born L I; Cremers F P M; den Hollander A I
[From gene to disease; Leber congenital amaurosis (LCA)]
Nederlands tijdschrift voor geneeskunde 2005;149(42):2334-7.
2005: Kemperman Martijn H; De Leenheer Els M R; Huygen Patrick L M; van Duijnhoven Gerard; Morton Cynthia C; Robertson Nahid G; Cremers Frans P M; Kremer Hannie; Cremers Cor W R J
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2005;26(5):926-33.
2005: Zernant Jana; Külm Maigi; Dharmaraj Sharola; den Hollander Anneke I; Perrault Isabelle; Preising Markus N; Lorenz Birgit; Kaplan Josseline; Cremers Frans P M; Maumenee Irene; Koenekoop Robert K; Allikmets Rando
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Investigative ophthalmology & visual science 2005;46(9):3052-9.
2005: de Brouwer Arjan P M; Kunst Hendrikus P M; Krebsova Alice; van Asseldonk Karin; Reis André; Snoeckx Rik L; Van Camp Guy; Cremers Cor W R J; Cremers Frans P M; Kremer Hannie
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.
American journal of medical genetics. Part A 2005;137(1):41-6.
2005: Kantardzhieva Albena; Gosens Ilse; Alexeeva Svetlana; Punte Ingrid M; Versteeg Inge; Krieger Elmar; Neefjes-Mol Carla A; den Hollander Anneke I; Letteboer Stef J F; Klooster Jan; Cremers Frans P M; Roepman Ronald; Wijnholds Jan
MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.
Investigative ophthalmology & visual science 2005;46(6):2192-201.
2005: Zeitz Christina; Minotti Roberta; Feil Silke; Mátyás Gábor; Cremers Frans P M; Hoyng Carel B; Berger Wolfgang
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Molecular vision 2005;11():179-83.
2005: Kohl Susanne; Varsanyi Balazs; Antunes Gesine Abadin; Baumann Britta; Hoyng Carel B; Jägle Herbert; Rosenberg Thomas; Kellner Ulrich; Lorenz Birgit; Salati Roberto; Jurklies Bernhard; Farkas Agnes; Andreasson Sten; Weleber Richard G; Jacobson Samuel G; Rudolph Günther; Castellan Claudio; Dollfus Helene; Legius Eric; Anastasi Mario; Bitoun Pierre; Lev Dorit; Sieving Paul A; Munier Francis L; Zrenner Eberhart; Sharpe Lindsay T; Cremers Frans P M; Wissinger Bernd
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European journal of human genetics : EJHG 2005;13(3):302-8.
2005: Klevering B Jeroen; Deutman August F; Maugeri Alessandra; Cremers Frans P M; Hoyng Carel B
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2005;243(2):90-100.
2005: Yang Zhenglin; Alvarez Bernardo V; Chakarova Christina; Jiang Li; Karan Goutam; Frederick Jeanne M; Zhao Yu; Sauvé Yves; Li Xi; Zrenner Eberhart; Wissinger Bernd; Hollander Anneke I Den; Katz Bradley; Baehr Wolfgang; Cremers Frans P; Casey Joseph R; Bhattacharya Shomi S; Zhang Kang
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
Human molecular genetics 2005;14(2):255-65.
2005: van den Hurk José A J M; Rashbass Penny; Roepman Ronald; Davis Jason; Voesenek Krysta E J; Arends Maarten L; Zonneveld Marijke N; van Roekel Marga H G; Cameron Karen; Rohrschneider Klaus; Heckenlively John R; Koenekoop Robert K; Hoyng Carel B; Cremers Frans P M; den Hollander Anneke I
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
Molecular vision 2005;11():263-73.
2004: Maugeri Alessandra; Meire Francoise; Hoyng Carel B; Vink Carolien; Van Regemorter Nicole; Karan Goutam; Yang Zhenglin; Cremers Frans P M; Zhang Kang
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
Investigative ophthalmology & visual science 2004;45(12):4263-7.
2004: Klevering B Jeroen; Yzer Suzanne; Rohrschneider Klaus; Zonneveld Marijke; Allikmets Rando; van den Born L Ingeborgh; Maugeri Alessandra; Hoyng Carel B; Cremers Frans P M
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
European journal of human genetics : EJHG 2004;12(12):1024-32.
2004: den Hollander Anneke I; Davis Jason; van der Velde-Visser Saskia D; Zonneveld Marijke N; Pierrottet Chiara O; Koenekoop Robert K; Kellner Ulrich; van den Born L Ingeborgh; Heckenlively John R; Hoyng Carel B; Handford Penny A; Roepman Ronald; Cremers Frans P M
CRB1 mutation spectrum in inherited retinal dystrophies.
Human mutation 2004;24(5):355-69.
2004: Theelen Thomas; Go Sioe Lie; Tilanus Maurits A D; Klevering B Jeroen; Deutman August F; Cremers Frans P M; Hoyng Carel B
Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2004;242(10):892-7.
2004: den Hollander A I; van Lith-Verhoeven J J C; Kersten F F J; Heister J G A M; de Kovel C G F; Deutman A F; Hoyng C B; Cremers F P M
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.
Journal of medical genetics 2004;41(9):699-702.
2004: Shi Wei; van den Hurk José A J M; Alamo-Bethencourt Victor; Mayer Wolfgang; Winkens Huub J; Ropers Hans-Hilger; Cremers Frans P M; Fundele Reinald
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.
Developmental biology 2004;272(1):53-65.
2004: Pennings Ronald J E; Te Brinke Heleen; Weston Michael D; Claassen Annemarie; Orten Dana J; Weekamp Henriëtte; Van Aarem Annelies; Huygen Patrick L M; Deutman August F; Hoefsloot Lies H; Cremers Frans P M; Cremers Cor W R J; Kimberling William J; Kremer Hannie
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Human mutation 2004;24(2):185.
2004: Luijendijk Mirjam W J; Van Wijk Erwin; Bischoff Anne M L C; Krieger Elmar; Huygen Patrick L M; Pennings Ronald J E; Brunner Han G; Cremers Cor W R J; Cremers Frans P M; Kremer Hannie
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Human genetics 2004;115(2):149-56.
2004: van Wijk Erwin; Pennings Ronald J E; te Brinke Heleen; Claassen Annemarie; Yntema Helger G; Hoefsloot Lies H; Cremers Frans P M; Cremers Cor W R J; Kremer Hannie
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
American journal of human genetics 2004;74(4):738-44.
2004: Kemperman Martijn H; De Leenheer Els M R; Huygen Patrick L M; van Wijk Erwin; van Duijnhoven Gerard; Cremers Frans P M; Kremer Hannie; Cremers Cor W R J
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Archives of otolaryngology--head & neck surgery 2004;130(3):281-8.
2004: Klevering B Jeroen; Maugeri Alessandra; Wagner Anja; Go Sioe Lie; Vink Carolien; Cremers Frans P M; Hoyng Carel B
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
Ophthalmology 2004;111(3):546-53.
2004: van Lith-Verhoeven Janneke J C; Hoyng Carel B; van den Helm Bellinda; Deutman August F; Brink Hendrik M A; Kemperman Martijn H; de Jong Wendy H M; Kremer Hannie; Cremers Frans P M
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
Investigative ophthalmology & visual science 2004;45(1):30-5.
2004: Bischoff Anne M L C; Luijendijk Mirjam W J; Huygen Patrick L M; van Duijnhoven Gerard; De Leenheer Els M R; Oudesluijs Grétel G; Van Laer Lut; Cremers Frans P M; Cremers Cor W R J; Kremer Hannie
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
Audiology & neuro-otology 2004;9(1):34-46.
2004: Cremers F P M; Maugeri A; den Hollander A I; Hoyng C B
The expanding roles of ABCA4 and CRB1 in inherited blindness.
Novartis Foundation symposium 2004;255():68-79; discussion 79-84, 177-8.
2003: van Wijk E; Krieger E; Kemperman M H; De Leenheer E M R; Huygen P L M; Cremers C W R J; Cremers F P M; Kremer H
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
Journal of medical genetics 2003;40(12):879-84.
2003: Jaakson K; Zernant J; Külm M; Hutchinson A; Tonisson N; Glavac D; Ravnik-Glavac M; Hawlina M; Meltzer M R; Caruso R C; Testa F; Maugeri A; Hoyng C B; Gouras P; Simonelli F; Lewis R A; Lupski J R; Cremers F P M; Allikmets R
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Human mutation 2003;22(5):395-403.
2003: van Lith-Verhoeven Janneke J C; van den Helm Bellinda; Deutman August F; Bergen Arthur A B; Cremers Frans P M; Hoyng Carel B; de Jong Paulus T V M
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
Archives of ophthalmology 2003;121(10):1452-7.
2003: Luijendijk M W J; van de Pol T J R; van Duijnhoven G; den Hollander A I; ten Caat J; van Limpt V; Brunner H G; Kremer H; Cremers F P M
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.
Genomics 2003;82(4):480-90.
2003: Yzer S; van den Born L I; Schuil J; Kroes H Y; van Genderen M M; Boonstra F N; van den Helm B; Brunner H G; Koenekoop R K; Cremers F P M
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Journal of medical genetics 2003;40(9):709-13.
2003: Go Sioe Lie; Maugeri Alessandra; Mulder Jef J S; van Driel Marc A; Cremers Frans P M; Hoyng Carel B
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
Investigative ophthalmology & visual science 2003;44(9):4035-43.
2003: van den Hurk José A J M; van de Pol Dorien J R; Wissinger Bernd; van Driel Marc A; Hoefsloot Lies H; de Wijs Ilse J; van den Born L Ingeborgh; Heckenlively John R; Brunner Han G; Zrenner Eberhart; Ropers Hans-Hilger; Cremers Frans P M
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Human genetics 2003;113(3):268-75.
2003: van Lith-Verhoeven Janneke J C; Cremers Frans P M; van den Helm Bellinda; Hoyng Carel B; Deutman August F
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
Molecular vision 2003;9():138-43.
2003: de Brouwer Arjan P M; Pennings Ronald J E; Roeters Marjolijn; Van Hauwe Peter; Astuto Lisa M; Hoefsloot Lies H; Huygen Patrick L M; van den Helm Bellinda; Deutman August F; Bork Julie M; Kimberling William J; Cremers Frans P M; Cremers Cor W R J; Kremer Hannie
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
Human genetics 2003;112(2):156-63.
2002: Cremers F P M; Maugeri A; Klevering B J; Hoefsloot L H; Hoyng C B
[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]
Nederlands tijdschrift voor geneeskunde 2002;146(34):1581-4.
2002: Klevering B Jeroen; Blankenagel Anita; Maugeri Alessandra; Cremers Frans P M; Hoyng Carel B; Rohrschneider Klaus
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
Investigative ophthalmology & visual science 2002;43(6):1980-5.
2002: Cremers Frans P M; van den Hurk José A J M; den Hollander Anneke I
Molecular genetics of Leber congenital amaurosis.
Human molecular genetics 2002;11(10):1169-76.
2002: Maugeri Alessandra; Flothmann Kris; Hemmrich Nadine; Ingvast Sofie; Jorge Paula; Paloma Eva; Patel Reshma; Rozet Jean-Michel; Tammur Jaana; Testa Francesco; Balcells Susana; Bird Alan C; Brunner Han G; Hoyng Carel B; Metspalu Andres; Simonelli Francesca; Allikmets Rando; Bhattacharya Shomi S; D'Urso Michele; Gonzàlez-Duarte Roser; Kaplan Josseline; te Meerman Gerard J; Santos Rosário; Schwartz Marianne; Van Camp Guy; Wadelius Claes; Weber Bernhard H F; Cremers Frans P M
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2002: van Lith-Verhoeven J J C; van der Velde-Visser S D; Sohocki M M; Deutman A F; Brink H M A; Cremers F P M; Hoyng C B
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
Ophthalmic genetics 2002;23(1):1-12.
2002: Klevering B Jeroen; van Driel Marc; van Hogerwou August J M; van De Pol Dorien J R; Deutman August F; Pinckers Alfred J L G; Cremers Frans P M; Hoyng Carel B
Central areolar choroidal dystrophy associated with dominantly inherited drusen.
The British journal of ophthalmology 2002;86(1):91-6.
2002: den Hollander Anneke I; Ghiani Michela; de Kok Yvette J M; Wijnholds Jan; Ballabio Andrea; Cremers Frans P M; Broccoli Vania
Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain.
Mechanisms of development 2002;110(1-2):203-7.
2002: Cremers C W R J; Snik A F M; Huygen P L M; Joosten F B M; Cremers F P M
X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3).
Advances in oto-rhino-laryngology 2002;61():161-7.
2001: den Hollander A I; Johnson K; de Kok Y J; Klebes A; Brunner H G; Knust E; Cremers F P
CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.
Human molecular genetics 2001;10(24):2767-73.
2001: Wissinger B; Gamer D; Jägle H; Giorda R; Marx T; Mayer S; Tippmann S; Broghammer M; Jurklies B; Rosenberg T; Jacobson S G; Sener E C; Tatlipinar S; Hoyng C B; Castellan C; Bitoun P; Andreasson S; Rudolph G; Kellner U; Lorenz B; Wolff G; Verellen-Dumoulin C; Schwartz M; Cremers F P; Apfelstedt-Sylla E; Zrenner E; Salati R; Sharpe L T; Kohl S
CNGA3 mutations in hereditary cone photoreceptor disorders.
American journal of human genetics 2001;69(4):722-37.
2001: Kirschner R; Erturk D; Zeitz C; Sahin S; Ramser J; Cremers F P; Ropers H H; Berger W
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
Human genetics 2001;109(3):271-8.
2001: Bom S J; De Leenheer E M; Lemaire F X; Kemperman M H; Verhagen W I; Marres H A; Kunst H P; Ensink R J; Bosman A J; Van Camp G; Cremers F P; Huygen P L; Cremers C W
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.
Archives of otolaryngology--head & neck surgery 2001;127(9):1045-8.
2001: McKie A B; McHale J C; Keen T J; Tarttelin E E; Goliath R; van Lith-Verhoeven J J; Greenberg J; Ramesar R S; Hoyng C B; Cremers F P; Mackey D A; Bhattacharya S S; Bird A C; Markham A F; Inglehearn C F
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Human molecular genetics 2001;10(15):1555-62.
2001: den Hollander A I; Heckenlively J R; van den Born L I; de Kok Y J; van der Velde-Visser S D; Kellner U; Jurklies B; van Schooneveld M J; Blankenagel A; Rohrschneider K; Wissinger B; Cruysberg J R; Deutman A F; Brunner H G; Apfelstedt-Sylla E; Hoyng C B; Cremers F P
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
American journal of human genetics 2001;69(1):198-203.
2001: Fransen E; Verstreken M; Bom S J; Lemaire F; Kemperman M H; De Kok Y J; Wuyts F L; Verhagen W I; Huygen P L; McGuirt W T; Smith R J; Van Maldergem L V; Declau F; Cremers C W; Van De Heyning P H; Cremers F P; Van Camp G
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.
Journal of medical genetics 2001;38(1):61-5.
2000: Maugeri A; Klevering B J; Rohrschneider K; Blankenagel A; Brunner H G; Deutman A F; Hoyng C B; Cremers F P
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
American journal of human genetics 2000;67(4):960-6.
2000: Roepman R; Bernoud-Hubac N; Schick D E; Maugeri A; Berger W; Ropers H H; Cremers F P; Ferreira P A
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
Human molecular genetics 2000;9(14):2095-105.
2000: Kunst H; Marres H; Huygen P; van Duijnhoven G; Krebsova A; van der Velde S; Reis A; Cremers F; Cremers C
Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).
Clinical otolaryngology and allied sciences 2000;25(1):45-54.
2000: Cremers F P; Cremers C W; Ropers H H
The ins and outs of X-linked deafness type 3.
Advances in oto-rhino-laryngology 2000;56():184-95.
1999: Yntema H G; van den Helm B; Kissing J; van Duijnhoven G; Poppelaars F; Chelly J; Moraine C; Fryns J P; Hamel B C; Heilbronner H; Pander H J; Brunner H G; Ropers H H; Cremers F P; van Bokhoven H
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Genomics 1999;62(3):332-43.
1999: Bom S J; Kunst H P; Huygen P L; Cremers F P; Cremers C W
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.
British journal of audiology 1999;33(5):335-48.
1999: den Hollander A I; ten Brink J B; de Kok Y J; van Soest S; van den Born L I; van Driel M A; van de Pol D J; Payne A M; Bhattacharya S S; Kellner U; Hoyng C B; Westerveld A; Brunner H G; Bleeker-Wagemakers E M; Deutman A F; Heckenlively J R; Cremers F P; Bergen A A
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: Bom S J; Kemperman M H; De Kok Y J; Huygen P L; Verhagen W I; Cremers F P; Cremers C W
Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.
The Laryngoscope 1999;109(9):1525-30.
1999: Klevering B J; van Driel M; van de Pol D J; Pinckers A J; Cremers F P; Hoyng C B
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
The British journal of ophthalmology 1999;83(8):914-8.
1999: Kirschner R; Rosenberg T; Schultz-Heienbrok R; Lenzner S; Feil S; Roepman R; Cremers F P; Ropers H H; Berger W
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
Human molecular genetics 1999;8(8):1571-8.
1999: den Hollander A I; van Driel M A; de Kok Y J; van de Pol D J; Hoyng C B; Brunner H G; Deutman A F; Cremers F P
Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.
Genomics 1999;58(3):240-9.
1999: Maugeri A; van Driel M A; van de Pol D J; Klevering B J; van Haren F J; Tijmes N; Bergen A A; Rohrschneider K; Blankenagel A; Pinckers A J; Dahl N; Brunner H G; Deutman A F; Hoyng C B; Cremers F P
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
American journal of human genetics 1999;64(4):1024-35.
1999: de Kok Y J; Bom S J; Brunt T M; Kemperman M H; van Beusekom E; van der Velde-Visser S D; Robertson N G; Morton C C; Huygen P L; Verhagen W I; Brunner H G; Cremers C W; Cremers F P
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
Human molecular genetics 1999;8(2):361-6.
1999: den Hollander A I; van der Velde-Visser S D; Pinckers A J; Hoyng C B; Brunner H G; Cremers F P
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.
Human genetics 1999;104(1):73-6.
1998: van Driel M A; Maugeri A; Klevering B J; Hoyng C B; Cremers F P
ABCR unites what ophthalmologists divide(s)
Ophthalmic genetics 1998;19(3):117-22.
1998: Schwahn U; Lenzner S; Dong J; Feil S; Hinzmann B; van Duijnhoven G; Kirschner R; Hemberger M; Bergen A A; Rosenberg T; Pinckers A J; Fundele R; Rosenthal A; Cremers F P; Ropers H H; Berger W
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Nature genetics 1998;19(4):327-32.
1998: Cremers F P; van de Pol D J; van Driel M; den Hollander A I; van Haren F J; Knoers N V; Tijmes N; Bergen A A; Rohrschneider K; Blankenagel A; Pinckers A J; Deutman A F; Hoyng C B
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
Human molecular genetics 1998;7(3):355-62.
1998: Gerber S; Rozet J M; van de Pol T J; Hoyng C B; Munnich A; Blankenagel A; Kaplan J; Cremers F P
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
Genomics 1998;48(1):139-42.
1998: Eib D W; Merkx G F; Martens G J; Cremers F P
Assignment1 of H7365 (C9orf2) to human chromosome band 9q31 by somatic cell hybrid analysis and fluorescence in situ hybridization.
Cytogenetics and cell genetics 1998;81(3-4):180-1.
1997: van den Hurk J A; Hendriks W; van de Pol D J; Oerlemans F; Jaissle G; Rüther K; Kohler K; Hartmann J; Zrenner E; van Bokhoven H; Wieringa B; Ropers H H; Cremers F P
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.
Human molecular genetics 1997;6(6):851-8.
1997: de Kok Y J; Cremers C W; Ropers H H; Cremers F P
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
Human mutation 1997;10(3):207-11.
1997: van den Hurk J A; Schwartz M; van Bokhoven H; van de Pol T J; Bogerd L; Pinckers A J; Bleeker-Wagemakers E M; Pawlowitzki I H; Rüther K; Ropers H H; Cremers F P
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
Human mutation 1997;9(2):110-7.
1996: van Bokhoven H; Rawson R B; Merkx G F; Cremers F P; Seabra M C
cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter.
Genomics 1996;38(2):133-40.
1996: Hoyng C B; Poppelaars F; van de Pol T J; Kremer H; Pinckers A J; Deutman A F; Cremers F P
Genetic fine mapping of the gene for recessive Stargardt disease.
Human genetics 1996;98(4):500-4.
1996: Van Bokhoven H; Van den Hurk J A; Bogerd L; Van de Pol D J; Ropers H H; Cremers F P
A highly polymorphic microsatellite marker located within the choroideremia gene.
Ophthalmic genetics 1996;17(3):119-21.
1996: de Kok Y J; Vossenaar E R; Cremers C W; Dahl N; Laporte J; Hu L J; Lacombe D; Fischel-Ghodsian N; Friedman R A; Parnes L S; Thorpe P; Bitner-Glindzicz M; Pander H J; Heilbronner H; Graveline J; den Dunnen J T; Brunner H G; Ropers H H; Cremers F P
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.
Human molecular genetics 1996;5(9):1229-35.
1996: Roepman R; van Duijnhoven G; Rosenberg T; Pinckers A J; Bleeker-Wagemakers L M; Bergen A A; Post J; Beck A; Reinhardt R; Ropers H H; Cremers F P; Berger W
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
Human molecular genetics 1996;5(7):1035-41.
1996: van der Maarel S M; Scholten I H; Huber I; Philippe C; Suijkerbuijk R F; Gilgenkrantz S; Kere J; Cremers F P; Ropers H H
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1.
Human molecular genetics 1996;5(7):887-97.
1996: Roepman R; Bauer D; Rosenberg T; van Duijnhoven G; van de Vosse E; Platzer M; Rosenthal A; Ropers H H; Cremers F P; Berger W
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).
Human molecular genetics 1996;5(6):827-33.
1995: Ponjavic V; Abrahamson M; Andréasson S; Van Bokhoven H; Cremers F P; Ehinger B; Fex G
Phenotype variations within a choroideremia family lacking the entire CHM gene.
Ophthalmic genetics 1995;16(4):143-50.
1995: de Kok Y J; Merkx G F; van der Maarel S M; Huber I; Malcolm S; Ropers H H; Cremers F P
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.
Human molecular genetics 1995;4(11):2145-50.
1995: Bitner-Glindzicz M; Turnpenny P; Höglund P; Kääriäinen H; Sankila E M; van der Maarel S M; de Kok Y J; Ropers H H; Cremers F P; Pembrey M
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
Human molecular genetics 1995;4(8):1467-9.
1995: Philippe C; Arnould C; Sloan F; van Bokhoven H; van der Velde-Visser S D; Chery M; Ropers H H; Gilgenkrantz S; Monaco A P; Cremers F P
A high-resolution interval map of the q21 region of the human X chromosome.
Genomics 1995;27(3):539-43.
1995: Cremers F P; Bitner-Glindzicz M; Pembrey M E; Ropers H H
Mapping and cloning hereditary deafness genes.
Current opinion in genetics & development 1995;5(3):371-5.
1995: de Kok Y J; van der Maarel S M; Bitner-Glindzicz M; Huber I; Monaco A P; Malcolm S; Pembrey M E; Ropers H H; Cremers F P
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Science (New York, N.Y.) 1995;267(5198):685-8.
1995: Berger W; van Duijnhoven G; Pinckers A; Smits A; Ropers H H; Cremers F
Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).
Human genetics 1995;95(1):67-70.
1994: Bitner-Glindzicz M; de Kok Y; Summers D; Huber I; Cremers F P; Ropers H H; Reardon W; Pembrey M E; Malcolm S
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
Journal of medical genetics 1994;31(12):916-21.
1994: van Bokhoven H; van Genderen C; Ropers H H; Cremers F P
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.
Human molecular genetics 1994;3(8):1446.
1994: van Bokhoven H; van den Hurk J A; Bogerd L; Philippe C; Gilgenkrantz S; de Jong P; Ropers H H; Cremers F P
Cloning and characterization of the human choroideremia gene.
Human molecular genetics 1994;3(7):1041-6.
1994: Cremers F P; Armstrong S A; Seabra M C; Brown M S; Goldstein J L
REP-2, a Rab escort protein encoded by the choroideremia-like gene.
The Journal of biological chemistry 1994;269(3):2111-7.
1994: Röhme D; Sidén T; van der Maarel S M; Cremers F P; Tantravahi U; Marinoni J C; Ropers H H; Schwartz C E
Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1.
Somatic cell and molecular genetics 1994;20(1):1-10.
1993: Philippe C; Cremers F P; Chery M; Bach I; Abbadi N; Ropers H H; Gilgenkrantz S
Physical mapping of DNA markers in the q13-q22 region of the human X chromosome.
Genomics 1993;17(1):147-52.
1993: Andres D A; Seabra M C; Brown M S; Armstrong S A; Smeland T E; Cremers F P; Goldstein J L
cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein.
Cell 1993;73(6):1091-9.
1993: Schwartz M; Rosenberg T; van den Hurk J A; van de Pol D J; Cremers F P
Identification of mutations in Danish choroideremia families.
Human mutation 1993;2(1):43-7.
1992: van den Hurk J A; van Zandvoort P M; Brunsmann F; Pawlowitzki I H; Holzgreve W; Szabo P; Cremers F P; van Oost B A
Prenatal exclusion of choroideremia.
American journal of medical genetics 1992;44(6):822-3.
1992: Berger W; Meindl A; de Leeuw B; de Roos A; van de Pol T J; Meitinger T; van der Velde-Visser S D; Achatz H; Geurts van Kessel A; Cremers F P
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.
Human genetics 1992;90(3):243-6.
1992: Berger W; van de Pol D; Warburg M; Gal A; Bleeker-Wagemakers L; de Silva H; Meindl A; Meitinger T; Cremers F; Ropers H H
Mutations in the candidate gene for Norrie disease.
Human molecular genetics 1992;1(7):461-5.
1992: Meindl A; Berger W; Meitinger T; van de Pol D; Achatz H; Dörner C; Haasemann M; Hellebrand H; Gal A; Cremers F
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Nature genetics 1992;2(2):139-43.
1992: Berger W; Meindl A; van de Pol T J; Cremers F P; Ropers H H; Döerner C; Monaco A; Bergen A A; Lebo R; Warburgh M
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;2(1):84.
1992: Bach I; Robinson D; Thomas N; Ropers H H; Cremers F P
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.
Human genetics 1992;89(6):620-4.
1992: Traupe H; Müller D; Atherton D; Kalter D C; Cremers F P; van Oost B A; Ropers H H
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.
Human genetics 1992;89(6):659-65.
1992: Bach I; Brunner H G; Beighton P; Ruvalcaba R H; Reardon W; Pembrey M E; van der Velde-Visser S D; Bruns G A; Cremers C W; Cremers F P
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
American journal of human genetics 1992;51(1):38-44.
1992: Berger W; Meindl A; van de Pol T J; Cremers F P; Ropers H H; Döerner C; Monaco A; Bergen A A; Lebo R; Warburg M
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;1(3):199-203.
1992: Sankila E M; Tolvanen R; van den Hurk J A; Cremers F P; de la Chapelle A
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Nature genetics 1992;1(2):109-13.
1992: Cremers F P; Molloy C M; van de Pol D J; van den Hurk J A; Bach I; Geurts van Kessel A H; Ropers H H
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.
Human molecular genetics 1992;1(2):71-5.
1992: Molloy C M; van de Pol T J; Brohet R M; Ropers H H; Cremers F P
Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2.
Nucleic acids research 1992;20(6):1434.
1991: Sankila E M; Sistonen P; Cremers F; de la Chapelle A
Choroideremia: linkage analysis with physically mapped close DNA-markers.
Human genetics 1991;87(3):348-52.
1990: Cremers F P; Brunsmann F; Berger W; van Kerkhoff E P; van de Pol T J; Wieringa B; Pawlowitzki I H; Ropers H H
Cloning of the breakpoints of a deletion associated with choroidermia.
Human genetics 1990;86(1):61-4.
1990: Cremers F P; Sankila E M; Brunsmann F; Jay M; Jay B; Wright A; Pinckers A J; Schwartz M; van de Pol D J; Wieringa B
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.
American journal of human genetics 1990;47(4):622-8.
1990: Cremers F P; van de Pol D J; van Kerkhoff L P; Wieringa B; Ropers H H
Cloning of a gene that is rearranged in patients with choroideraemia.
Nature 1990;347(6294):674-7.
1990: van de Pol T J; Cremers F P; Brohet R M; Wieringa B; Ropers H H
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.
Nucleic acids research 1990;18(4):725-31.
1989: Cremers F P; van de Pol D J; Wieringa B; Collins F S; Sankila E M; Siu V M; Flintoff W F; Brunsmann F; Blonden L A; Ropers H H
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(19):7510-4.
1989: Cremers F P; van de Pol D J; Diergaarde P J; Wieringa B; Nussbaum R L; Schwartz M; Ropers H H
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
Genomics 1989;4(1):41-6.
1988: Cremers F P; van de Pol T J; Wieringa B; Hofker M H; Pearson P L; Pfeiffer R A; Mikkelsen M; Tabor A; Ropers H H
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.
American journal of human genetics 1988;43(4):452-61.
1987: Cremers F P; Brunsmann F; van de Pol T J; Pawlowitzki I H; Paulsen K; Wieringa B; Ropers H H
Deletion of the DXS165 locus in patients with classical choroideremia.
Clinical genetics 1987;32(6):421-3.
1987: Cremers F P; Pfeiffer R A; van de Pol T J; Hofker M H; Kruse T A; Wieringa B; Ropers H H
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.
Human genetics 1987;77(1):23-7.

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