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Frans Cremers

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Muhammad Ajmal; Syeda Hafiza Benish Ali; Humaira Ayub; Maleeha Azam; Rob W J Collin; Frans P M Cremers; Christian Gilissen; Sulman Jaffar; Muhammad Imran Khan; Shazia Micheal; Kornelia Neveling; Moeen Riaz; Ahmed Sadeque; Ali Tayyab; Nasir Mahmood Abbasi; Raheel Qamar
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Kornelia Neveling; Frans P M Cremers; Anneke I den Hollander; Rob W J Collin
Identification and analysis of inherited retinal disease genes.
Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

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All Publications

2013: Muhammad Ajmal; Syeda Hafiza Benish Ali; Humaira Ayub; Maleeha Azam; Rob W J Collin; Frans P M Cremers; Christian Gilissen; Sulman Jaffar; Muhammad Imran Khan; Shazia Micheal; Kornelia Neveling; Moeen Riaz; Ahmed Sadeque; Ali Tayyab; Nasir Mahmood Abbasi; Raheel Qamar
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Molecular vision 2013;19():644-53.
2013: Kornelia Neveling; Frans P M Cremers; Anneke I den Hollander; Rob W J Collin
Identification and analysis of inherited retinal disease genes.
Methods in molecular biology (Clifton, N.J.) 2013;935():3-23.
2012: Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology 2012;130(11):1425-32.
2012: Alejandro Estrada-Cuzcano; Frans P M Cremers; Anneke I den Hollander; Ronald Roepman; Dorus A Mans
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Human molecular genetics 2012;21(R1):R111-24.
2012: Susanne Kohl; Robert Lukowski; Françoise Meire; Frans C C Riemslag; Susanne Roosing; Simone Schaich; Maria van Genderen; Sylvia Bolz; Christina Brennenstuhl; Frauke Coppieters; Frans P M Cremers; Elfride De Baere; Anneke I den Hollander; Carel B Hoyng; Bernd Wissinger
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
American journal of human genetics 2012;91(3):527-32.
2012: Karin W Littink; Frans C C Riemslag; Bjorn Bakker; Frans P M Cremers; Anneke I den Hollander; Jan E E Keunen; Maria M van Genderen; Mary J van Schooneveld; Linda Visser; Marijke N Zonneveld; L Ingeborgh Van Den Born
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Ophthalmology 2012;119(9):1899-906.
2012: Tomas R Burke; Maria Laura Ciccarelli; Frans P M Cremers; Gerald A Fishman; Alessandro Iannaccone; Caroline C W Klaver; Robert K Koenekoop; Carl Schubert; R Theodore Smith; Stephen H Tsang; Allison Umfress; Jana Zernant; Radha Ayyagari; Alfonso Baldi; Rando Allikmets
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Investigative ophthalmology & visual science 2012;53(8):4458-67.
2012: Sarah C Westeneng-van Haaften; Camiel J F Boon; Frans P M Cremers; Anneke I den Hollander; Lies H Hoefsloot; Carel B Hoyng
Clinical and genetic characteristics of late-onset Stargardt's disease.
Ophthalmology 2012;119(6):1199-210.
2012: Kornelia Neveling; Anna M Siemiatkowska; L Ingeborgh Van Den Born; Ramon A C van Huet; Joris Veltman; Linda Visser; Nienke Wieskamp; Marijke N Zonneveld; Kari E H Branham; Michael F Buckley; Rob W J Collin; Frans P M Cremers; Joep de Ligt; Anneke I den Hollander; Sabine J Gijsen; Christian Gilissen; Lies Hoefsloot; Alexander Hoischen; Carel B Hoyng; Ulrich Kellner; B Jeroen Klevering; Michael P Kwint; Hans Scheffer
Next-generation genetic testing for retinitis pigmentosa.
Human mutation 2012;33(6):963-72.
2012: Alberta A H J Thiadens; L Ingeborgh Van Den Born; Maria M van Genderen; Norka van Moll-Ramirez; Mary J van Schooneveld; Renate C Zekveld-Vroon; T My Lan Phan; Jan Willem R Pott; Susanne Roosing; Arthur A B Bergen; Camiel J F Boon; Frans P M Cremers; Elfride De Baere; Anneke I den Hollander; Carel B Hoyng; Caroline C W Klaver; Bart P Leroy; Andrew J Lotery
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012;119(4):819-26.
2012: Alejandro Estrada-Cuzcano; Tzipora C Falik-Zaccai; Sabine J Gijsen; Stephanie Hipp; B Jeroen Klevering; Susanne Kohl; Michael P Kwint; Stef J F Letteboer; Dorus A Mans; Kornelia Neveling; Ronald Roepman; Ygal Rotenstreich; Hans Scheffer; Dror Sharon; Ramon A C van Huet; Joris Veltman; Bernd Wissinger; Eberhart Zrenner; Eyal Banin; Ellen A W Blokland; Rob W J Collin; Anneke I den Hollander; Frans P M Cremers
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
American journal of human genetics 2012;90(1):102-9.
2012: Qin Liu; Rob W J Collin; Frans P M Cremers; Anneke I den Hollander; L Ingeborgh Van Den Born; Eric A Pierce
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.
PloS one 2012;7(8):e43251.
2012: Muhammad Ajmal; Syeda Hafiza Benish Ali; Maleeha Azam; Rob W J Collin; Anneke I den Hollander; Muhammad Safdar Iqbal; Muhammad Imran Khan; Yar Muhammad Khan; Kornelia Neveling; Raheel Qamar; Waqas Ahmed; Frans P M Cremers
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Molecular vision 2012;18():1558-71.
2012: Nadia K Waheed; Ahmed H Qavi; Moeen Riaz; Maleeha Azam; Frans P M Cremers; Sarah N Malik; Maleeha Maria; Raheel Qamar
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.
Molecular vision 2012;18():1253-9.
2012: Muhammad Ajmal; Aisha Azam; Habib Bokhari; Rob W J Collin; Anneke I den Hollander; Muhammad Imran Khan; Shazia Micheal; Raheel Qamar; Ashfa Shah; Hanka Venselaar; Nadia Khalida Waheed; Waqas Ahmed; Frans P M Cremers
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Molecular vision 2012;18():1226-37.
2012: Suzanne Yzer; Anneke I den Hollander; Jan-Tjeerd H N de Faber; Frans P M Cremers; Robert K Koenekoop; Irma Lopez; Jan Willem R Pott; L Ingeborgh Van Den Born
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
Molecular vision 2012;18():412-25.
2011: Almudena Avila-Fernández; Carmen Ayuso; Fiona Blanco-Kelly; Diego Cantalapiedra; Marta Cortón; Ruth Fernández-Sánchez; Blanca García Sandoval; María I López-Molina; Esther Martín-Garrido; Rosa Riveiro-Álvarez; Sorina D Tatu; María J Trujillo-Tiebas; Frans P M Cremers
Late onset retinitis pigmentosa.
Ophthalmology 2011;118(12):2523-4.
2011: Bernd Wissinger; Christiane Wolf; Ditta Zobor; Eberhart Zrenner; Monika Andrassi-Darida; Britta Baumann; Antje Bernd; Michael Bonin; Frans P M Cremers; Elfride De Baere; Hélène Dollfus; Enyedi Peter; Christoph Friedburg; John R Heckenlively; Carel B Hoyng; Herbert Jägle; Ulrich Kellner; Bart P Leroy; Birgit Lorenz; Astrid Plomp; Thomas Rosenberg; Günter Rudolph; Roberto Salati; Alexandra Sauer; Simone Schaich; Balázs Varsányi; Susanne Kohl
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Human mutation 2011;32(12):1398-406.
2011: Maleeha Azam; Habib Bokhari; Rob W J Collin; Frans P M Cremers; Muhammad Ajmal; Kentar Arimadyo; Ayesha Azam; Alamdar Hussain; Muhammad I Khan; Ayesha Malik; Raheel Qamar; Nadeem Qureshi; Ahmed Sadeque; Aftab A Shah; Syed Tahir A Shah; Tim M Strom; Anneke I den Hollander
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
Archives of ophthalmology 2011;129(10):1377-8.
2011: Karlien L M Coene; Frans P M Cremers; C Johannes Gloeckner; Stef J F Letteboer; Dorus A Mans; Theo A Peters; Emine Bolat; Karsten Boldt; Susanne Roosing; Marius Ueffing; Jeroen van Reeuwijk; Ronald Roepman
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Human molecular genetics 2011;20(18):3592-605.
2011: Rıza Köksal Ozgül; Dror Sharon; Wei Shen; Anna M Siemiatkowska; L Ingeborgh Van Den Born; Didem Yücel; Marijke N Zonneveld; Eyal Banin; Avigail Beryozkin; Ron Bose; Rob W J Collin; Frans P M Cremers; Anneke I den Hollander; Carel B Hoyng; B Jeroen Klevering; connie anne myers; Joseph C Corbo
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
American journal of human genetics 2011;89(2):253-64.
2011: Muhammad Imran Khan; Hannie Kremer; Raheel Qamar; Syed Tahir-A Shah; Maleeha Azam; Rob W J Collin; Frans P M Cremers; Alamdar Hussain; Ferry F J Kersten; Jan E E Keunen; Anneke I den Hollander
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Ophthalmology 2011;118(7):1444-8.
2011: Karsten Boldt; Dorus A Mans; Jungyeon Won; Jeroen van Reeuwijk; Andreas Vogt; Norbert Kinkl; Stef J F Letteboer; Wanda L Hicks; Ron E Hurd; Jürgen K Naggert; Yves Texier; Anneke I den Hollander; Robert K Koenekoop; Jean Bennett; Frans P M Cremers; Christian J Gloeckner; Patsy M Nishina; Ronald Roepman; Marius Ueffing
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
The Journal of clinical investigation 2011;121(6):2169-80.
2011: Konstantinos Nikopoulos; Isabelle Schrauwen; Marleen Simon; Guy Van Camp; Rob W J Collin; Frans P M Cremers; Kathelijn Keymolen; Marc Veckeneer; L Ingeborgh Van Den Born
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
Investigative ophthalmology & visual science 2011;52(7):4774-9.
2011: Rob W J Collin; L Ingeborgh Van Den Born; B Jeroen Klevering; Marta de Castro Miró; Karin W Littink; Kentar Arimadyo; Maleeha Azam; Volkan Yazar; Marijke N Zonneveld; Codrut C Paun; Anna M Siemiatkowska; Tim M Strom; Jayne Y Hehir-Kwa; Hester Y Kroes; Jan-Tjeerd H N de Faber; Mary J van Schooneveld; John R Heckenlively; Carel B Hoyng; Anneke I den Hollander; Frans P M Cremers
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Investigative ophthalmology & visual science 2011;52(5):2227-39.
2011: Alejandro Estrada-Cuzcano; Robert K Koenekoop; Frauke Coppieters; Susanne Kohl; Irma Lopez; Rob W J Collin; Elfride B W De Baere; Debbie Roeleveld; Jonah Marek; Antje Bernd; Klaus Rohrschneider; L Ingeborgh Van Den Born; Françoise Meire; Irene H Maumenee; Samuel G Jacobson; Carel B Hoyng; Eberhart Zrenner; Frans P M Cremers; Anneke I den Hollander
IQCB1 mutations in patients with leber congenital amaurosis.
Investigative ophthalmology & visual science 2011;52(2):834-9.
2011: Anna M Siemiatkowska; Tim M Strom; Marijke N Zonneveld; Kentar Arimadyo; Galuh D N Astuti; Frans P M Cremers; Marta de Castro-Miro; Ilse J de Wijs; Anneke I den Hollander; Sultana M H Faradz; Lies Hoefsloot; Luminita M Moruz; Rob W J Collin
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Molecular vision 2011;17():3013-24.
2010: Alberta A H J Thiadens; Ville Somervuo; L Ingeborgh Van Den Born; Susanne Roosing; Mary J van Schooneveld; Robert W A M Kuijpers; Norka van Moll-Ramirez; Frans P M Cremers; Carel B Hoyng; Caroline C W Klaver
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Investigative ophthalmology & visual science 2010;51(11):5952-7.
2010: Karin W Littink; Robert K Koenekoop; L Ingeborgh Van Den Born; Rob W J Collin; Luminita Moruz; Joris Veltman; Susanne Roosing; Marijke N Zonneveld; Amer Omar; Mahshad Darvish; Irma Lopez; Hester Y Kroes; Maria M van Genderen; Carel B Hoyng; Klaus Rohrschneider; Mary J van Schooneveld; Frans P M Cremers; Anneke I den Hollander
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Investigative ophthalmology & visual science 2010;51(11):5943-51.
2010: Karin W Littink; L Ingeborgh Van Den Born; Robert K Koenekoop; Rob W J Collin; Marijke N Zonneveld; Ellen A W Blokland; Hayat Khan; Thomas Theelen; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; B Jeroen Klevering
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Ophthalmology 2010;117(10):2026-33, 2033.e1-7.
2010: Anneke I den Hollander; Aaron Black; Jean Bennett; Frans P M Cremers
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.
The Journal of clinical investigation 2010;120(9):3042-53.
2010: Arijit Mukhopadhyay; Jamie M Kramer; Gerard F M Merkx; Dorien Lugtenberg; Dominique Smeets; Merel A W Oortveld; Ellen A W Blokland; Jyoti Agrawal; Annette Schenck; Hans van Bokhoven; Erik Huys; Eric F P M Schoenmakers; Ad Geurts van Kessel; C Erik van Nouhuys; Frans P M Cremers
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Human genetics 2010;128(3):281-91.
2010: Dikla Bandah-Rozenfeld; Karin W Littink; Tamar Ben-Yosef; Tim M Strom; Itay Chowers; Rob W J Collin; Anneke I den Hollander; L Ingeborgh Van Den Born; Marijke N Zonneveld; Saul Merin; Eyal Banin; Frans P M Cremers; Dror Sharon
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Investigative ophthalmology & visual science 2010;51(9):4387-94.
2010: Dikla Bandah-Rozenfeld; Rob W J Collin; Eyal Banin; L Ingeborgh van den Born; Karlien L M Coene; Anna M Siemiatkowska; Lina Zelinger; Muhammad I Khan; Dirk J Lefeber; Inbar Erdinest; Francesco Testa; Francesca Simonelli; Krysta Voesenek; Ellen A W Blokland; Tim M Strom; Caroline C W Klaver; Raheel Qamar; Sandro Banfi; Frans P M Cremers; Dror Sharon; Anneke I den Hollander
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
American journal of human genetics 2010;87(2):199-208.
2010: Karin W Littink; Jan Willem R Pott; Rob W J Collin; Hester Y Kroes; Joke B G M Verheij; Ellen A W Blokland; Marta de Castro Miró; Carel B Hoyng; Caroline C W Klaver; Robert K Koenekoop; Klaus Rohrschneider; Frans P M Cremers; L Ingeborgh Van Den Born; Anneke I den Hollander
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Investigative ophthalmology & visual science 2010;51(7):3646-52.
2010: Konstantinos Nikopoulos; Hanka Venselaar; Rob W J Collin; Rosa Riveiro-Alvarez; F Nienke Boonstra; Johanna M M Hooymans; Arijit Mukhopadhyay; Deborah Shears; Marleen van Bers; Ilse J de Wijs; Anthonie J van Essen; Rolf Sijmons; Mauk A D Tilanus; C Erik van Nouhuys; Carmen Ayuso; Lies Hoefsloot; Frans P M Cremers
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Human mutation 2010;31(6):656-66.
2010: Rob W J Collin; Christine Safieh; Karin W Littink; Stavit A Shalev; Hanna J Garzozi; Leah Rizel; Anan H Abbasi; Frans P M Cremers; Anneke I den Hollander; B Jeroen Klevering; Tamar Ben-Yosef
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
American journal of human genetics 2010;86(5):783-8.
2010: Alberta A H J Thiadens; Susanne Roosing; Rob W J Collin; Norka van Moll-Ramirez; Janneke J C van Lith-Verhoeven; Mary J van Schooneveld; Anneke I den Hollander; L Ingeborgh Van Den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Ophthalmology 2010;117(4):825-30.e1.
2010: Fabian Schmid; Esther Glaus; Frans P M Cremers; Barbara Kloeckener-Gruissem; Wolfgang Berger; John Neidhardt
Mutation- and tissue-specific alterations of RPGR transcripts.
Investigative ophthalmology & visual science 2010;51(3):1628-35.
2010: Konstantinos Nikopoulos; Christian Gilissen; Alexander Hoischen; C Erik van Nouhuys; F Nienke Boonstra; Ellen A W Blokland; Peer Arts; Nienke Wieskamp; Tim M Strom; Carmen Ayuso; Mauk A D Tilanus; Sanne Bouwhuis; Arijit Mukhopadhyay; Hans Scheffer; Lies Hoefsloot; Joris Veltman; Frans P M Cremers; Rob W J Collin
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
American journal of human genetics 2010;86(2):240-7.
2010: Margit Schraders; Kwanghyuk Lee; Jaap Oostrik; Patrick Huygen; Ghazanfar Ali; Lies Hoefsloot; Joris Veltman; Frans P M Cremers; Sulman Basit; Muhammad Ansar; Cor W R J Cremers; Henricus P M Kunst; Wasim Ahmad; Ronald J C Admiraal; Suzanne M Leal; Hannie Kremer
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
American journal of human genetics 2010;86(2):138-47.
2010: Carrie M Louie; Gianluca Caridi; Vanda S Lopes; Francesco Brancati; Andreas Kispert; Madeline A Lancaster; Andrew M Schlossman; Edgar Otto; Michael Leitges; Hermann-Josef Gröne; Irma Lopez; Harini V Gudiseva; John F O'Toole; Elena Vallespin; Radha Ayyagari; Carmen Ayuso; Frans P M Cremers; Anneke I den Hollander; Robert K Koenekoop; Bruno Dallapiccola; Gian Marco Ghiggeri; Friedhelm Hildebrandt; Enza Maria Valente; David S Williams; Joseph G Gleeson
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Nature genetics 2010;42(2):175-80.
2010: Muhammad Imran Khan; Rob W J Collin; Kentar Arimadyo; Shazia Micheal; Maleeha Azam; Nadeem Qureshi; Sultana M H Faradz; Anneke I den Hollander; Raheel Qamar; Frans P M Cremers
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
Molecular vision 2010;16():2753-9.
2010: Almudena Ávila-Fernández; Diego Cantalapiedra; Elena Aller; Elena Vallespín; Jana Aguirre-Lambán; Fiona Blanco-Kelly; M Corton; Rosa Riveiro-Álvarez; Rando Allikmets; María José Trujillo-Tiebas; José M Millán; Frans P M Cremers; Carmen Ayuso
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
Molecular vision 2010;16():2550-8.
2010: Maleeha Azam; Rob W J Collin; Syed Tahir Abbas Shah; Aftab Ali Shah; Muhammad Imran Khan; Alamdar Hussain; Ahmed Sadeque; Tim M Strom; Alberta A H J Thiadens; Susanne Roosing; Anneke I den Hollander; Frans P M Cremers; Raheel Qamar
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
Molecular vision 2010;16():774-81.
2009: Christina Zeitz; Stephan Labs; Birgit Lorenz; Ursula Forster; Janne Uksti; Hester Y Kroes; Elfride De Baere; Bart P Leroy; Frans P M Cremers; Mariana Wittmer; Maria van Genderen; José-Alain Sahel; Isabelle Audo; Charlotte M Poloschek; Saddek Mohand-Saïd; Johannes C Fleischhauer; Ulrike Hüffmeier; Veselina Moskova-Doumanova; Alex V Levin; Christian P Hamel; Dorothee Leifert; Francis L Munier; Daniel F Schorderet; Eberhart Zrenner; Christoph Friedburg; Bernd Wissinger; Susanne Kohl; Wolfgang Berger
Genotyping microarray for CSNB-associated genes.
Investigative ophthalmology & visual science 2009;50(12):5919-26.
2009: Frans P M Cremers; Rob W J Collin
Promises and challenges of genetic therapy for blindness.
Lancet 2009;374(9701):1569-70.
2009: Sascha Vermeer; Rowdy P P Meijer; Tom G J Hofste; Daniëlle Bodmer; Ermanno A J Bosgoed; Frans P M Cremers; Berry H P Kremer; Nine V A M Knoers; Hans Scheffer
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: Karlien L M Coene; Ronald Roepman; Dan Doherty; Bushra Afroze; Hester Y Kroes; Stef J F Letteboer; Lock H Ngu; Bartlomiej Budny; Erwin van Wijk; Nicholas T Gorden; Malika Azhimi; Christel Thauvin-Robinet; Joris Veltman; Mireille Boink; Tjitske Kleefstra; Frans P M Cremers; Hans van Bokhoven; Arjan de Brouwer
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: Alberta A H J Thiadens; Niki W R Slingerland; Susanne Roosing; Mary J van Schooneveld; Janneke J C van Lith-Verhoeven; Norka van Moll-Ramirez; L Ingeborgh Van Den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Ophthalmology 2009;116(10):1984-9.e1.
2009: F Nienke Boonstra; C Erik van Nouhuys; J Schuil; Ilse J de Wijs; Kim P van der Donk; Kostas Nikopoulos; Arijit Mukhopadhyay; Hans Scheffer; Mauk A D Tilanus; Frans P M Cremers; Lies Hoefsloot
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science 2009;50(9):4379-85.
2009: Alberta A H J Thiadens; Anneke I den Hollander; Susanne Roosing; Sander B Nabuurs; Renate C Zekveld-Vroon; Rob W J Collin; Elfride De Baere; Robert K Koenekoop; Mary J van Schooneveld; Tim M Strom; Janneke J C van Lith-Verhoeven; Andrew J Lotery; Norka van Moll-Ramirez; Bart P Leroy; L Ingeborgh Van Den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
American journal of human genetics 2009;85(2):240-7.
2009: Camiel J F Boon; Thomas Theelen; Lies Hoefsloot; Mary J van Schooneveld; Jan E E Keunen; Frans P M Cremers; B Jeroen Klevering; Carel B Hoyng
Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
Retina (Philadelphia, Pa.) 2009;29(6):835-47.
2009: Camiel J F Boon; Nicole C A J van de Kar; B Jeroen Klevering; Jan E E Keunen; Frans P M Cremers; Caroline C W Klaver; Carel B Hoyng; Mohamed R Daha; Anneke I den Hollander
The spectrum of phenotypes caused by variants in the CFH gene.
Molecular immunology 2009;46(8-9):1573-94.
2009: Karin W Littink; Maria M van Genderen; Rob W J Collin; Susanne Roosing; Arjan de Brouwer; Frans C C Riemslag; Hanka Venselaar; Alberta A H J Thiadens; Carel B Hoyng; Klaus Rohrschneider; Anneke I den Hollander; Frans P M Cremers; L Ingeborgh Van Den Born
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Investigative ophthalmology & visual science 2009;50(5):2344-50.
2009: Camiel J F Boon; B Jeroen Klevering; Frans P M Cremers; Marijke N Zonneveld-Vrieling; Thomas Theelen; Anneke I den Hollander; Carel B Hoyng
Central areolar choroidal dystrophy.
Ophthalmology 2009;116(4):771-82, 782.e1.
2009: Heleen H Arts; Frans P M Cremers; Nine V A M Knoers; Ronald Roepman
Focus on molecules: RPGRIP1.
Experimental eye research 2009;88(3):332-3.
2009: Maleeha Azam; Muhammad Imran Khan; Andreas Gal; Alamdar Hussain; Syed Tahir Abbas Shah; Muhammad Shakil Khan; Ahmed Sadeque; Habib Bokhari; Rob W J Collin; Ulrike Orth; Maria M van Genderen; A I den Hollander; Frans P M Cremers; Raheel Qamar
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Molecular vision 2009;15():2526-34.
2009: Maleeha Azam; Rob W J Collin; Muhammad Imran Khan; Syed Tahir Abbas Shah; Nadeem Qureshi; Muhammad Ajmal; Anneke I den Hollander; Raheel Qamar; Frans P M Cremers
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
Molecular vision 2009;15():1788-93.
2009: Hannie Kremer; Frans P M Cremers
Positional cloning of deafness genes.
Methods in molecular biology (Clifton, N.J.) 2009;493():215-38.
2008: Rob W J Collin; Karin W Littink; B Jeroen Klevering; L Ingeborgh Van Den Born; Robert K Koenekoop; Marijke N Zonneveld; Ellen A W Blokland; Tim M Strom; Carel B Hoyng; Anneke I den Hollander; Frans P M Cremers
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: Anneke I den Hollander; Ronald Roepman; Robert K Koenekoop; Frans P M Cremers
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Progress in retinal and eye research 2008;27(4):391-419.
2008: Ilse Gosens; Anneke I den Hollander; Frans P M Cremers; Ronald Roepman
Composition and function of the Crumbs protein complex in the mammalian retina.
Experimental eye research 2008;86(5):713-26.
2008: Rob W J Collin; Ramesh Chellappa; Robert J Pauw; Gert Vriend; Jaap Oostrik; Wendy van Drunen; Patrick Huygen; Ronald J C Admiraal; Lies Hoefsloot; Frans P M Cremers; Mengqing Xiang; Cor W R J Cremers; Hannie Kremer
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: Camiel Boon; Anneke I den Hollander; Carel B Hoyng; Frans P M Cremers; B Jeroen Klevering; Jan E E Keunen
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: Camiel Boon; B Jeroen Klevering; Carel B Hoyng; Marijke N Zonneveld-Vrieling; Sander B Nabuurs; Ellen Blokland; Frans P M Cremers; Anneke I den Hollander
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
American journal of human genetics 2008;82(2):516-23.
2008: John Neidhardt; Esther Glaus; Birgit Lorenz; Christian Netzer; Yün Li; Maria Schambeck; Mariana Wittmer; Silke Feil; Renate Kirschner-Schwabe; Thomas Rosenberg; Frans P M Cremers; Arthur A B Bergen; Daniel Barthelmes; Husnia Baraki; Fabian Schmid; Gaby Tanner; Johannes C Fleischhauer; Ulrike Orth; Christian Becker; Erika Wegscheider; Gudrun Nürnberg; Peter Nürnberg; Hanno Jörn Bolz; Andreas Gal; Wolfgang Berger
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Molecular vision 2008;14():1081-93.
2008: Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Amer Riazuddin; Suzanne M Leal; Hannie Kremer
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: Valeska Frank; Anneke I den Hollander; Nadina Ortiz Brüchle; Marijke N Zonneveld; Gudrun Nürnberg; Christian Becker; Gabriele du Bois; Heide Kendziorra; Susanne Roosing; Jan Senderek; Peter Nürnberg; Frans P M Cremers; Klaus Zerres; Carsten Bergmann
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Human mutation 2008;29(1):45-52.
2007: Arijit Mukhopadhyay; Barend F Th Hogewind; Thomas Theelen; Frans P M Cremers; Carel B Hoyng
Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma.
Human genetics 2007;122(5):553.
2007: Anneke I den Hollander; Irma Lopez; Suzanne Yzer; Marijke N Zonneveld; Irene M Janssen; Tim M Strom; Jayne Hehir-Kwa; Joris Veltman; Maarten L Arends; Thomas Meitinger; Maria A Musarella; L Ingeborgh Van Den Born; Gerald A Fishman; Irene H Maumenee; Klaus Rohrschneider; Frans P M Cremers; Robert K Koenekoop
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: Ilse Gosens; Alessandro Sessa; Anneke I den Hollander; Stef J F Letteboer; Valentina Belloni; Maarten L Arends; André Le Bivic; Frans P M Cremers; Vania Broccoli; Ronald Roepman
FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
Experimental cell research 2007;313(19):3959-70.
2007: Camiel Boon; Mary J van Schooneveld; Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Marijke N Zonneveld-Vrieling; Thomas Theelen; Frans P M Cremers; Carel B Hoyng; B Jeroen Klevering
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: Robert K Koenekoop; Frans P M Cremers; Anneke I den Hollander
Leber congenital amaurosis: ciliary proteins on the move.
Ophthalmic genetics 2007;28(3):111-2.
2007: Ilse Gosens; Erwin van Wijk; Ferry F J Kersten; Elmar Krieger; Bert van der Zwaag; Tina Märker; Stef J F Letteboer; Simone Dusseljee; Theo Peters; Henk A Spierenburg; Ingrid M Punte; Uwe Wolfrum; Frans P M Cremers; Hannie Kremer; Ronald Roepman
MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
Human molecular genetics 2007;16(16):1993-2003.
2007: Camiel Boon; B Jeroen Klevering; Anneke I den Hollander; Marijke N Zonneveld; Thomas Theelen; Frans P M Cremers; Carel B Hoyng
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
Archives of ophthalmology 2007;125(8):1100-6.
2007: Robert K Koenekoop; Irma Lopez; Anneke I den Hollander; Rando Allikmets; Frans P M Cremers
Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.
Clinical & experimental ophthalmology 2007;35(5):473-85.
2007: Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Maarten L Arends; Tim M Strom; Frans P M Cremers; Carel B Hoyng
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
Archives of ophthalmology 2007;125(7):932-5.
2007: Heleen H Arts; Dan Doherty; Sylvia van Beersum; Melissa A Parisi; Stef J F Letteboer; Nicholas T Gorden; Theo A Peters; Tina Märker; Krysta Voesenek; Aileen Kartono; Hamit Ozyurek; Federico M Farin; Hester Y Kroes; Uwe Wolfrum; Han G Brunner; Frans P M Cremers; Ian A Glass; Nine V A M Knoers; Ronald Roepman
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: José A J M van den Hurk; Iwan C Meij; Maria del Carmen Seleme; Hiroki Kano; Konstantinos Nikopoulos; Lies Hoefsloot; Erik A Sistermans; Ilse J de Wijs; Arijit Mukhopadhyay; Astrid S Plomp; Paulus T V M de Jong; Haig Kazazian ; Frans P M Cremers
L1 retrotransposition can occur early in human embryonic development.
Human molecular genetics 2007;16(13):1587-92.
2007: Rob W J Collin; Ersan Kalay; Jaap Oostrik; Refik Caylan; Bernd Wollnik; Selçuk Arslan; Anneke I den Hollander; Yelda Birinci; Peter Lichtner; Tim M Strom; Bayram Toraman; Lies Hoefsloot; Cor W R J Cremers; Han G Brunner; Frans P M Cremers; Ahmet Karaguzel; Hannie Kremer
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation 2007;28(7):718-23.
2007: Frans P M Cremers; William J Kimberling; Maigi Külm; Arjan de Brouwer; Erwin van Wijk; Heleen te Brinke; Cor W R J Cremers; Lies Hoefsloot; Sandro Banfi; Francesca Simonelli; Johannes C Fleischhauer; Wolfgang Berger; Philip M Kelley; Elene Haralambous; Maria Bitner-Glindzicz; Andrew R Webster; Zubin Saihan; Elfride De Baere; Bart P Leroy; Giuliana Silvestri; Gareth J McKay; Robert K Koenekoop; Jose M Millan; Thomas Rosenberg; Tarja Joensuu; Eeva-Marja Sankila; Dominique Weil; Michael D Weston; Bernd Wissinger; Hannie Kremer
Development of a genotyping microarray for Usher syndrome.
Journal of medical genetics 2007;44(2):153-60.
2007: Barend F T Hogewind; Katarina Gaplovska-Kysela; Thomas Theelen; Frans P M Cremers; Gary Hin-Fai Yam; Carel B Hoyng; Arijit Mukhopadhyay
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: Suzanne Yzer; L Ingeborgh Van Den Born; Marijke N Zonneveld; Irma Lopez; Radha Ayyagari; Leonard Teye-Botchway; Luisa Mota-vieira; Frans P M Cremers; Robert K Koenekoop
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Molecular vision 2007;13():1568-72.
2006: Agnes B Renner; Ulrich Kellner; Elke Cropp; Markus N Preising; Ian M MacDonald; José A J M van den Hurk; Frans P M Cremers; Michael H Foerster
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Ophthalmology 2006;113(11):2066.e1-10.
2006: Mélisande Richard; Ronald Roepman; Wendy M Aartsen; Agnes G S H van Rossum; Anneke I den Hollander; Elisabeth Knust; Jan Wijnholds; Frans P M Cremers
Towards understanding CRUMBS function in retinal dystrophies.
Human molecular genetics 2006;15 Spec No 2():R235-43.
2006: Suzanne Yzer; Gerald A Fishman; Julie Racine; Sana Al-Zuhaibi; Hadi Chakor; Allison Dorfman; Janet P Szlyk; Pierre Lachapelle; L Ingeborgh Van Den Born; Rando Allikmets; Irma Lopez; Frans P M Cremers; Robert K Koenekoop
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(9):3736-44.
2006: Anneke I den Hollander; Robert K Koenekoop; Suzanne Yzer; Irma Lopez; Maarten L Arends; Krysta Voesenek; Marijke N Zonneveld; Tim M Strom; Thomas Meitinger; Han G Brunner; Carel B Hoyng; L Ingeborgh Van Den Born; Klaus Rohrschneider; Frans P M Cremers
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: Arijit Mukhopadhyay; Konstantinos Nikopoulos; Alessandra Maugeri; Arjan de Brouwer; C Eric van Nouhuys; Camiel Boon; Rahat Perveen; Hester A A Zegers; Dienke Wittebol-Post; Pieter R van den Biesen; Saskia D van der Velde-Visser; Han G Brunner; Graeme C M Black; Carel B Hoyng; Frans P M Cremers
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: Ersan Kalay; Yun Li; Abdullah Uzumcu; Oya Uyguner; Rob W J Collin; Refik Caylan; Melike Ulubil-Emiroglu; Ferry F J Kersten; Gunter Hafiz; Erwin van Wijk; Hulya Kayserili; Edyta Rohmann; Janine Wagenstaller; Lies Hoefsloot; Tim M Strom; Gudrun Nürnberg; Nermin Baserer; Anneke I den Hollander; Frans P M Cremers; Cor W R J Cremers; Christian Becker; Han G Brunner; Peter Nürnberg; Ahmet Karaguzel; Seher Basaran; Christian Kubisch; Hannie Kremer; Bernd Wollnik
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: Suzanne Yzer; Bart P Leroy; Elfride De Baere; Thomy J de Ravel; Marijke N Zonneveld; Krysta Voesenek; Ulrich Kellner; Jose P Martinez Ciriano; Jan-Tjeerd H N de Faber; Klaus Rohrschneider; Ronald Roepman; Anneke I den Hollander; J R M Cruysberg; Françoise Meire; Ingele Casteels; Norka G van Moll-Ramirez; Rando Allikmets; L Ingeborgh Van Den Born; Frans P M Cremers
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(3):1167-76.
2006: Erwin van Wijk; Bert van der Zwaag; Theo Peters; Ulrike Zimmermann; Heleen te Brinke; Ferry F J Kersten; Tina Märker; Elena Aller; Lies Hoefsloot; Cor W R J Cremers; Frans P M Cremers; Uwe Wolfrum; Marlies Knipper; Ronald Roepman; Hannie Kremer
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: Ronald Roepman; Stef J F Letteboer; Heleen H Arts; Sylvia van Beersum; Xinrong Lu; Elmar Krieger; Paulo A Ferreira; Frans P M Cremers
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: Ersan Kalay; Ahmet Karaguzel; Refik Caylan; A Heister; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Arjan de Brouwer; Hannie Kremer
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Human mutation 2005;26(6):591.
2005: Ersan Kalay; Arjan de Brouwer; Refik Caylan; Sander B Nabuurs; Bernd Wollnik; Ahmet Karaguzel; J G A M Heister; Hidayet Erdol; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Hannie Kremer
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: Christina Zeitz; Maria van Genderen; John Neidhardt; Ulrich Luhmann; Frank Hoeben; Ursula Forster; Katharina Wycisk; Gábor Mátyás; Carel B Hoyng; Frans Riemslag; Françoise Meire; Frans P M Cremers; Wolfgang Berger
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: Suzanne Yzer; L Ingeborgh Van Den Born; Frans P M Cremers; Anneke I den Hollander
[From gene to disease; Leber congenital amaurosis (LCA)].
Nederlands tijdschrift voor geneeskunde 2005;149(42):2334-7.
2005: Martijn H Kemperman; Els M R De Leenheer; Patrick Huygen; Gerard van Duijnhoven; Cynthia C Morton; Nahid G Robertson; Frans P M Cremers; Hannie Kremer; Cor W R J Cremers
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: Jana Zernant; Maigi Külm; Sharola Dharmaraj; Anneke I den Hollander; Isabelle Perrault; Markus N Preising; Birgit Lorenz; Josseline Kaplan; Frans P M Cremers; Irene H Maumenee; Robert K Koenekoop; Rando Allikmets
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Investigative ophthalmology & visual science 2005;46(9):3052-9.
2005: Arjan de Brouwer; Henricus P M Kunst; Alice Krebsova; Karin van Asseldonk; André Reis; Rikkert L Snoeckx; Guy Van Camp; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
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: Albena Kantardzhieva; Ilse Gosens; Svetlana Alexeeva; Ingrid M Punte; Inge Versteeg; Elmar Krieger; Carla A Neefjes-Mol; Anneke I den Hollander; Stef J F Letteboer; Jan Klooster; Frans P M Cremers; Ronald Roepman; Jan Wijnholds
MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.
Investigative ophthalmology & visual science 2005;46(6):2192-201.
2005: Christina Zeitz; Roberta Minotti; Silke Feil; Gábor Mátyás; Frans P M Cremers; Carel B Hoyng; Wolfgang Berger
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Molecular vision 2005;11():179-83.
2005: Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Ágnes Farkas; sten andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Hélène Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European journal of human genetics : EJHG 2005;13(3):302-8.
2005: B Jeroen Klevering; August F Deutman; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng
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: Zhenglin Yang; Bernardo V Alvarez; Christina F Chakarova; Li Jiang; Goutam Karan; Jeanne M Frederick; Yu Zhao; Yves Sauvé; Xi Li; Eberhart Zrenner; Bernd Wissinger; Anneke I Den Hollander; Bradley Katz; Wolfgang Baehr; Frans P M Cremers; Joseph R Casey; Shomi S Bhattacharya; Kang Zhang
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
Human molecular genetics 2005;14(2):255-65.
2005: José A J M van den Hurk; Penny Rashbass; Ronald Roepman; Jason Davis; Krysta Voesenek; Maarten L Arends; Marijke N Zonneveld; Marga H G van Roekel; Karen Cameron; Klaus Rohrschneider; John R Heckenlively; Robert K Koenekoop; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander
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: Alessandra Maugeri; Françoise Meire; Carel B Hoyng; Carolien Vink; Nicole Van Regemorter; Goutam Karan; Zhenglin Yang; Frans P M Cremers; Kang Zhang
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
Investigative ophthalmology & visual science 2004;45(12):4263-7.
2004: B Jeroen Klevering; Suzanne Yzer; Klaus Rohrschneider; Marijke N Zonneveld; Rando Allikmets; L Ingeborgh Van Den Born; Alessandra Maugeri; Carel B Hoyng; Frans P M Cremers
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: Anneke I den Hollander; Jason Davis; Saskia D van der Velde-Visser; Marijke N Zonneveld; Chiara O Pierrottet; Robert K Koenekoop; Ulrich Kellner; L Ingeborgh Van Den Born; John R Heckenlively; Carel B Hoyng; Penny A Handford; Ronald Roepman; Frans P M Cremers
CRB1 mutation spectrum in inherited retinal dystrophies.
Human mutation 2004;24(5):355-69.
2004: Thomas Theelen; Sioe Lie Go; Maurits A D Tilanus; B Jeroen Klevering; August F Deutman; Frans P M Cremers; Carel B Hoyng
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: Anneke I den Hollander; Janneke J C van Lith-Verhoeven; Ferry F J Kersten; J G A M Heister; Carolien G F de Kovel; August F Deutman; Carel B Hoyng; Frans P M Cremers
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: Wei Shi; José A J M van den Hurk; Victor Alamo-Bethencourt; Wolfgang Mayer; Huub J Winkens; Hans-Hilger Ropers; Frans P M Cremers; Reinald Fundele
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.
Developmental biology 2004;272(1):53-65.
2004: Ronald Pennings; Heleen te Brinke; Michael D Weston; Annemarie Claassen; Dana J Orten; Henriëtte H Weekamp; Annelies van Aarem; Patrick Huygen; August F Deutman; Lies Hoefsloot; Frans P M Cremers; Cor W R J Cremers; William J Kimberling; Hannie Kremer
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Human mutation 2004;24(2):185.
2004: Mirjam W J Luijendijk; Erwin van Wijk; Anne M L C Bischoff; Elmar Krieger; Patrick Huygen; Ronald Pennings; Han G Brunner; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
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: Erwin van Wijk; Ronald Pennings; Heleen te Brinke; Annemarie Claassen; Helger G Yntema; Lies Hoefsloot; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
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: Martijn H Kemperman; Els M R De Leenheer; Patrick Huygen; Erwin van Wijk; Gerard van Duijnhoven; Frans P M Cremers; Hannie Kremer; Cor W R J Cremers
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: B Jeroen Klevering; Alessandra Maugeri; Anja Wagner; Sioe Lie Go; Carolien Vink; Frans P M Cremers; Carel B Hoyng
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
Ophthalmology 2004;111(3):546-53.
2004: Frans P M Cremers; Alessandra Maugeri; Anneke I den Hollander; Carel B Hoyng
The expanding roles of ABCA4 and CRB1 in inherited blindness.
Novartis Foundation symposium 2004;255():68-79; discussion 79-84, 177-8.
2004: Janneke J C van Lith-Verhoeven; Carel B Hoyng; Bellinda van den Helm; August F Deutman; Hendrik M A Brink; Martijn H Kemperman; Wendy H M de Jong; Hannie Kremer; Frans P M Cremers
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
Investigative ophthalmology & visual science 2004;45(1):30-5.
2004: Anne M L C Bischoff; Mirjam W J Luijendijk; Patrick Huygen; Gerard van Duijnhoven; Els M R De Leenheer; Grétel G Oudesluijs; Lut Van Laer; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
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.
2003: Erwin van Wijk; Elmar Krieger; Martijn H Kemperman; Els M R De Leenheer; Patrick Huygen; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
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: K Jaakson; Jana Zernant; Maigi Külm; A Hutchinson; N Tonisson; Damjan Glavac; Metka Ravnik-Glavac; M Hawlina; M R Meltzer; R C Caruso; Francesco Testa; Alessandra Maugeri; Carel B Hoyng; Peter Gouras; Francesca Simonelli; R A Lewis; J R Lupski; Frans P M Cremers; Rando Allikmets
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Human mutation 2003;22(5):395-403.
2003: Janneke J C van Lith-Verhoeven; Bellinda van den Helm; August F Deutman; Arthur A B Bergen; Frans P M Cremers; Carel B Hoyng; Paulus T V M de Jong
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: Mirjam W J Luijendijk; T J R van de Pol; Gerard van Duijnhoven; Anneke I den Hollander; J ten Caat; Vera Limpt, van; Han G Brunner; Hannie Kremer; Frans P M Cremers
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.
Genomics 2003;82(4):480-90.
2003: Suzanne Yzer; L Ingeborgh Van Den Born; J Schuil; H Y Kroes; Maria van Genderen; F N Boonstra; Bellinda van den Helm; Han G Brunner; Robert K Koenekoop; Frans P M Cremers
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: Sioe Lie Go; Alessandra Maugeri; Jef J S Mulder; Marc A van Driel; Frans P M Cremers; Carel B Hoyng
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
Investigative ophthalmology & visual science 2003;44(9):4035-43.
2003: José A J M van den Hurk; Dorien J R van De Pol; Bernd Wissinger; Marc A van Driel; Lies Hoefsloot; Ilse J de Wijs; L Ingeborgh Van Den Born; John R Heckenlively; Han G Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P M Cremers
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: Janneke J C van Lith-Verhoeven; Frans P M Cremers; Bellinda van den Helm; Carel B Hoyng; August F Deutman
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
Molecular vision 2003;9():138-43.
2003: Arjan de Brouwer; Ronald Pennings; Marjolijn Roeters; Peter Van Hauwe; Lisa M Astuto; Lies Hoefsloot; Patrick Huygen; Bellinda van den Helm; August F Deutman; Julie M Bork; William J Kimberling; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
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: Frans P M Cremers; Alessandra Maugeri; B Jeroen Klevering; Lies Hoefsloot; Carel B Hoyng
[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: B Jeroen Klevering; Anita Blankenagel; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng; Klaus Rohrschneider
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: Frans P M Cremers; José A J M van den Hurk; Anneke I den Hollander
Molecular genetics of Leber congenital amaurosis.
Human molecular genetics 2002;11(10):1169-76.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
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: Janneke J C van Lith-Verhoeven; Saskia D van der Velde-Visser; M M Sohocki; August F Deutman; H M A Brink; Frans P M Cremers; Carel B Hoyng
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: Cor W R J Cremers; Ad F M Snik; Patrick Huygen; Frank B M Joosten; Frans P M Cremers
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.
2002: B Jeroen Klevering; Marc A van Driel; August J M van Hogerwou; Dorien J R van De Pol; August F Deutman; Alfred J L G Pinckers; Frans P M Cremers; Carel B Hoyng
Central areolar choroidal dystrophy associated with dominantly inherited drusen.
The British journal of ophthalmology 2002;86(1):91-6.
2002: Anneke I den Hollander; Michela Ghiani; Yvette J M de Kok; Jan Wijnholds; Andrea Ballabio; Frans P M Cremers; Vania Broccoli
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.
2001: Anneke I den Hollander; K Johnson; Yvette J M de Kok; A Klebes; Han G Brunner; Elisabeth Knust; Frans P M Cremers
CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.
Human molecular genetics 2001;10(24):2767-73.
2001: Bernd Wissinger; Daphne Gamer; Herbert Jägle; R Giorda; T Marx; S Mayer; Sabine Tippmann; Martina Broghammer; Bernhard Jurklies; Thomas Rosenberg; Samuel G Jacobson; E C Sener; S Tatlipinar; Carel B Hoyng; C Castellan; Pierre Bitoun; sten andreasson; Günther Rudolph; Ulrich Kellner; Birgit Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; Frans P M Cremers; Eckart Apfelstedt-Sylla; Eberhart Zrenner; Roberto Salati; Lindsay T Sharpe; Susanne Kohl
CNGA3 mutations in hereditary cone photoreceptor disorders.
American journal of human genetics 2001;69(4):722-37.
2001: R Kirschner; D Erturk; C Zeitz; S Sahin; J Ramser; Frans P M Cremers; Hans-Hilger Ropers; Wolfgang Berger
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: Steven J H Bom; Els M R De Leenheer; François X Lemaire; Martijn H Kemperman; Wim I M Verhagen; Henri Marres; Henricus P M Kunst; Robbert J H Ensink; Arjan J Bosman; Guy Van Camp; Frans P M Cremers; Patrick Huygen; Cor W R J Cremers
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: Arthur B McKie; John McHale; T Jeffrey Keen; Emma E Tarttelin; R Goliath; Janneke J C van Lith-Verhoeven; Jacquie Greenberg; Rajkumar Ramesar; Carel B Hoyng; Frans P M Cremers; David A Mackey; Shomi S Bhattacharya; Alan C Bird; Alexander F Markham; Chris F Inglehearn
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Human molecular genetics 2001;10(15):1555-62.
2001: Anneke I den Hollander; John R Heckenlively; L Ingeborgh Van Den Born; Yvette J M de Kok; Saskia D van der Velde-Visser; Ulrich Kellner; Bernhard Jurklies; Mary J van Schooneveld; Anita Blankenagel; Klaus Rohrschneider; Bernd Wissinger; J R M Cruysberg; August F Deutman; Han G Brunner; Eckart Apfelstedt-Sylla; Carel B Hoyng; Frans P M Cremers
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: Erik Fransen; Margriet Verstreken; Steven J H Bom; François X Lemaire; Martijn H Kemperman; Yvette J M de Kok; Floris L Wuyts; Wim I M Verhagen; Patrick Huygen; Wyman T McGuirt; R J Smith; L V Van Maldergem; Frank Declau; Cor W R J Cremers; Paul H Van De Heyning; Frans P M Cremers; Guy Van Camp
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: Alessandra Maugeri; B Jeroen Klevering; Klaus Rohrschneider; Anita Blankenagel; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
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: Ronald Roepman; N Bernoud-Hubac; DE Schick; Alessandra Maugeri; Wolfgang Berger; Hans-Hilger Ropers; Frans P M Cremers; Paulo A Ferreira
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: Henricus P M Kunst; Henri Marres; Patrick Huygen; Gerard van Duijnhoven; A Krebsova; S van der Velde; A Reis; Frans P M Cremers; Cor W R J Cremers
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: Frans P M Cremers; Cor W R J Cremers; Hans-Hilger Ropers
The ins and outs of X-linked deafness type 3.
Advances in oto-rhino-laryngology 2000;56():184-95.
1999: Helger G Yntema; Bellinda van den Helm; J Kissing; Gerard van Duijnhoven; Francis A M Poppelaars; J Chelly; Claude Moraine; Jean-Pierre Fryns; Ben C J Hamel; H Heilbronner; H J Pander; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers; Hans van Bokhoven
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: Steven J H Bom; Henricus P M Kunst; Patrick Huygen; Frans P M Cremers; Cor W R J Cremers
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.
British journal of audiology 1999;33(5):335-48.
1999: Anneke I den Hollander; Jacoline B ten Brink; Yvette J M de Kok; Simone van Soest; L Ingeborgh Van Den Born; MA van Driel; Dorien J R van De Pol; Annette M Payne; S S Bhattacharya; Ulrich Kellner; Carel B Hoyng; A Westerveld; Han G Brunner; EM Bleeker-Wagemakers; August F Deutman; John R Heckenlively; Frans P M Cremers; Arthur A B Bergen
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: Steven J H Bom; Martijn H Kemperman; Yvette J M de Kok; Patrick Huygen; Wim I M Verhagen; Frans P M Cremers; Cor W R J Cremers
Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.
The Laryngoscope 1999;109(9):1525-30.
1999: B Jeroen Klevering; Marc A van Driel; Dorien J R van De Pol; Alfred J L G Pinckers; Frans P M Cremers; Carel B Hoyng
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: R Kirschner; Thomas Rosenberg; R Schultz-Heienbrok; Steffen Lenzner; Silke Feil; Ronald Roepman; Frans P M Cremers; Hans-Hilger Ropers; Wolfgang Berger
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: Anneke I den Hollander; MA van Driel; Yvette J M de Kok; Dorien J R van De Pol; Carel B Hoyng; Han G Brunner; August F Deutman; Frans P M Cremers
Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.
Genomics 1999;58(3):240-9.
1999: Alessandra Maugeri; MA van Driel; Dorien J R van De Pol; B Jeroen Klevering; F J van Haren; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; N Dahl; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
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: Yvette J M de Kok; Steven J H Bom; T M Brunt; Martijn H Kemperman; E van Beusekom; Saskia D van der Velde-Visser; Nahid G Robertson; Cynthia C Morton; Patrick Huygen; Wim I M Verhagen; Han G Brunner; Cor W R J Cremers; Frans P M Cremers
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: Anneke I den Hollander; Saskia D van der Velde-Visser; Alfred J L G Pinckers; Carel B Hoyng; Han G Brunner; Frans P M Cremers
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.
Human genetics 1999;104(1):73-6.
1998: MA van Driel; Alessandra Maugeri; B Jeroen Klevering; Carel B Hoyng; Frans P M Cremers
ABCR unites what ophthalmologists divide(s)
Ophthalmic genetics 1998;19(3):117-22.
1998: U Schwahn; Steffen Lenzner; J Dong; Silke Feil; Bernd Hinzmann; Gerard van Duijnhoven; R Kirschner; Myriam Hemberger; Arthur A B Bergen; Thomas Rosenberg; Alfred J L G Pinckers; Reinald Fundele; André Rosenthal; Frans P M Cremers; Hans-Hilger Ropers; Wolfgang Berger
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Nature genetics 1998;19(4):327-32.
1998: Frans P M Cremers; Dorien J R van De Pol; MA van Driel; Anneke I den Hollander; F J van Haren; Nine V A M Knoers; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; August F Deutman; Carel B Hoyng
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: S Gerber; J M Rozet; T J R van de Pol; Carel B Hoyng; Arnold Munnich; Anita Blankenagel; J Kaplan; Frans P M Cremers
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: Doug W Eib; Gerard F M Merkx; Gerard J M Martens; Frans P M Cremers
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: José A J M van den Hurk; Wiljan Hendriks; Dorien J R van De Pol; Frank Oerlemans; Gesine B Jaissle; K Rüther; K Kohler; J Hartmann; Eberhart Zrenner; Hans van Bokhoven; Bé Wieringa; Hans-Hilger Ropers; Frans P M Cremers
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: Yvette J M de Kok; Cor W R J Cremers; Hans-Hilger Ropers; Frans P M Cremers
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: José A J M van den Hurk; M Schwartz; Hans van Bokhoven; T J R van de Pol; L Bogerd; Alfred J L G Pinckers; EM Bleeker-Wagemakers; I H Pawlowitzki; K Rüther; Hans-Hilger Ropers; Frans P M Cremers
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
Human mutation 1997;9(2):110-7.
1996: Hans van Bokhoven; R B Rawson; Gerard F M Merkx; Frans P M Cremers; Miguel C Seabra
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: Carel B Hoyng; F Poppelaars; T J van de Pol; H Kremer; Alfred J L G Pinckers; August F Deutman; Frans P M Cremers
Genetic fine mapping of the gene for recessive Stargardt disease.
Human genetics 1996;98(4):500-4.
1996: Hans van Bokhoven; José A J M van den Hurk; L Bogerd; Dorien J R van De Pol; Hans-Hilger Ropers; Frans P M Cremers
A highly polymorphic microsatellite marker located within the choroideremia gene.
Ophthalmic genetics 1996;17(3):119-21.
1996: Yvette J M de Kok; E R Vossenaar; Cor W R J Cremers; Niklas Dahl; Jocelyn Laporte; L J Hu; Didier Lacombe; Nathan Fischel-Ghodsian; R A Friedman; L S Parnes; P Thorpe; Maria Bitner-Glindzicz; H J Pander; H Heilbronner; J Graveline; J T den Dunnen; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers
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: R Roepman; Gerard van Duijnhoven; T Rosenberg; Alfred J L G Pinckers; L M Bleeker-Wagemakers; Arthur A B Bergen; J Post; A Beck; R Reinhardt; Hans-Hilger Ropers; Frans P M Cremers; Wolfgang Berger
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: S M van der Maarel; I H Scholten; I Huber; C Philippe; Ron Suijkerbuijk; S Gilgenkrantz; J Kere; Frans P M Cremers; Hans-Hilger Ropers
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: R Roepman; D Bauer; T Rosenberg; Gerard van Duijnhoven; Esther van de Vosse; M Platzer; A Rosenthal; Hans-Hilger Ropers; Frans P M Cremers; Wolfgang Berger
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: Vesna Ponjavic; Magnus Abrahamson; Sten Andréasson; Hans van Bokhoven; Frans P M Cremers; Berndt Ehinger; G Fex
Phenotype variations within a choroideremia family lacking the entire CHM gene.
Ophthalmic genetics 1995;16(4):143-50.
1995: Yvette J M de Kok; Gerard F M Merkx; S M van der Maarel; I Huber; Sue Malcolm; Hans-Hilger Ropers; Frans P M Cremers
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: Maria Bitner-Glindzicz; P Turnpenny; P Höglund; Helena Kääriäinen; Eeva-Marja Sankila; S M van der Maarel; Yvette J M de Kok; Hans-Hilger Ropers; Frans P M Cremers; Marcus E Pembrey
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
Human molecular genetics 1995;4(8):1467-9.
1995: C Philippe; C Arnould; F Sloan; Hans van Bokhoven; Saskia D van der Velde-Visser; M Chery; Hans-Hilger Ropers; S Gilgenkrantz; Anthony P Monaco; Frans P M Cremers
A high-resolution interval map of the q21 region of the human X chromosome.
Genomics 1995;27(3):539-43.
1995: Frans P M Cremers; Maria Bitner-Glindzicz; Marcus E Pembrey; Hans-Hilger Ropers
Mapping and cloning hereditary deafness genes.
Current opinion in genetics & development 1995;5(3):371-5.
1995: Yvette J M de Kok; S M van der Maarel; Maria Bitner-Glindzicz; I Huber; Anthony P Monaco; Sue Malcolm; Marcus E Pembrey; Hans-Hilger Ropers; Frans P M Cremers
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: Wolfgang Berger; Gerard van Duijnhoven; A Pinckers; Arie P T Smits; Hans-Hilger Ropers; Frans P M Cremers
Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).
Human genetics 1995;95(1):67-70.
1994: Maria Bitner-Glindzicz; Yvette J M de Kok; D Summers; I Huber; Frans P M Cremers; Hans-Hilger Ropers; William Reardon; Marcus E Pembrey; Sue Malcolm
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: Hans van Bokhoven; C van Genderen; Hans-Hilger Ropers; Frans P M Cremers
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.
Human molecular genetics 1994;3(8):1446.
1994: Hans van Bokhoven; José A J M van den Hurk; L Bogerd; C Philippe; S Gilgenkrantz; P de Jong; Hans-Hilger Ropers; Frans P M Cremers
Cloning and characterization of the human choroideremia gene.
Human molecular genetics 1994;3(7):1041-6.
1994: Frans P M Cremers; Scott A Armstrong; Miguel C Seabra; Michael S Brown; Joseph L Goldstein
REP-2, a Rab escort protein encoded by the choroideremia-like gene.
The Journal of biological chemistry 1994;269(3):2111-7.
1994: D Röhme; T Sidén; S M van der Maarel; Frans P M Cremers; U Tantravahi; J C Marinoni; Hans-Hilger Ropers; C E Schwartz
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: C Philippe; Frans P M Cremers; M Chery; I Bach; N Abbadi; Hans-Hilger Ropers; S Gilgenkrantz
Physical mapping of DNA markers in the q13-q22 region of the human X chromosome.
Genomics 1993;17(1):147-52.
1993: D A Andres; Miguel C Seabra; Michael S Brown; Scott A Armstrong; T E Smeland; Frans P M Cremers; Joseph L Goldstein
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: Marianne Schwartz; T Rosenberg; José A J M van den Hurk; Dorien J R van De Pol; Frans P M Cremers
Identification of mutations in Danish choroideremia families.
Human mutation 1993;2(1):43-7.
1992: José A J M van den Hurk; P M van Zandvoort; F Brunsmann; I H Pawlowitzki; W Holzgreve; P Szabo; Frans P M Cremers; BA van Oost
Prenatal exclusion of choroideremia.
American journal of medical genetics 1992;44(6):822-3.
1992: Wolfgang Berger; Alfons Meindl; B de Leeuw; A de Roos; T J van de Pol; Thomas Meitinger; Saskia D van der Velde-Visser; H Achatz; Ad Geurts van Kessel; Frans P M Cremers
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: Wolfgang Berger; Dorien J R van De Pol; M Warburg; Andreas Gal; L Bleeker-Wagemakers; H de Silva; Alfons Meindl; Thomas Meitinger; Frans P M Cremers; Hans-Hilger Ropers
Mutations in the candidate gene for Norrie disease.
Human molecular genetics 1992;1(7):461-5.
1992: Alfons Meindl; Wolfgang Berger; Thomas Meitinger; Dorien J R van De Pol; H Achatz; C Dörner; M Haasemann; Heide Hellebrand; Andreas Gal; Frans P M Cremers
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: Wolfgang Berger; Alfons Meindl; T J van de Pol; Frans P M Cremers; Hans-Hilger Ropers; C Döerner; Anthony P Monaco; A A Bergen; R Lebo; M Warburgh
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;2(1):84.
1992: I Bach; D Robinson; N Thomas; Hans-Hilger Ropers; Frans P M Cremers
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: H Traupe; D Müller; D Atherton; D C Kalter; Frans P M Cremers; BA van Oost; Hans-Hilger Ropers
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: I Bach; Han G Brunner; P Beighton; R H Ruvalcaba; W Reardon; Marcus E Pembrey; Saskia D van der Velde-Visser; G A Bruns; Cor W R J Cremers; Frans P M Cremers
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
American journal of human genetics 1992;51(1):38-44.
1992: Wolfgang Berger; Alfons Meindl; T J van de Pol; Frans P M Cremers; Hans-Hilger Ropers; C Döerner; Anthony P Monaco; A A Bergen; R Lebo; M Warburg
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;1(3):199-203.
1992: Eeva-Marja Sankila; R Tolvanen; José A J M van den Hurk; Frans P M Cremers; Albert de La Chapelle
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
Nature genetics 1992;1(2):109-13.
1992: Frans P M Cremers; C M Molloy; Dorien J R van De Pol; José A J M van den Hurk; I Bach; A H Geurts van Kessel; Hans-Hilger Ropers
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: C M Molloy; T J van de Pol; R M Brohet; Hans-Hilger Ropers; Frans P M Cremers
Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2.
Nucleic acids research 1992;20(6):1434.
1991: Eeva-Marja Sankila; Pertti Sistonen; Frans P M Cremers; Albert de La Chapelle
Choroideremia: linkage analysis with physically mapped close DNA-markers.
Human genetics 1991;87(3):348-52.
1990: Frans P M Cremers; F Brunsmann; Wolfgang Berger; E P van Kerkhoff; T J van de Pol; Bé Wieringa; I H Pawlowitzki; Hans-Hilger Ropers
Cloning of the breakpoints of a deletion associated with choroidermia.
Human genetics 1990;86(1):61-4.
1990: Frans P M Cremers; Dorien J R van De Pol; L P van Kerkhoff; Bé Wieringa; Hans-Hilger Ropers
Cloning of a gene that is rearranged in patients with choroideraemia.
Nature 1990;347(6294):674-7.
1990: Frans P M Cremers; Eeva-Marja Sankila; F Brunsmann; M Jay; B Jay; A Wright; Alfred J L G Pinckers; M Schwartz; Dorien J R van De Pol; Bé Wieringa
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: T J van de Pol; Frans P M Cremers; R M Brohet; Bé Wieringa; Hans-Hilger Ropers
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.
Nucleic acids research 1990;18(4):725-31.
1989: Frans P M Cremers; Dorien J R van De Pol; Bé Wieringa; Francis S Collins; Eeva-Marja Sankila; V M Siu; W F Flintoff; F Brunsmann; L A Blonden; Hans-Hilger Ropers
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: Frans P M Cremers; Dorien J R van De Pol; P J Diergaarde; Bé Wieringa; Robert L Nussbaum; M Schwartz; Hans-Hilger Ropers
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
Genomics 1989;4(1):41-6.
1988: Frans P M Cremers; T J van de Pol; Bé Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; Hans-Hilger Ropers
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: Frans P M Cremers; F Brunsmann; T J van de Pol; I H Pawlowitzki; K Paulsen; Bé Wieringa; Hans-Hilger Ropers
Deletion of the DXS165 locus in patients with classical choroideremia.
Clinical genetics 1987;32(6):421-3.
1987: Frans P M Cremers; R A Pfeiffer; T J van de Pol; M H Hofker; T A Kruse; Bé Wieringa; Hans-Hilger Ropers
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.