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Hester Kroes

Research Profile

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Genes & Molecular Sequences

Single Nucleotide Polymorphism

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Hester Y Kroes; Dick Lindhout; Dorien T Lugtenberg; Rutger A J Nievelstein; Anneke I den Hollander; Ron Hochstenbach; Onno Van Nieuwenhuizen; Martin Poot
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.
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.
Annelien L Bredenoord; Hester Y Kroes; Edwin Cuppen; Michael Parker; Johannes J M van Delden
Disclosure of individual genetic data to research participants: the debate reconsidered.

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All Publications

2011: Hester Y Kroes; Dick Lindhout; Dorien T Lugtenberg; Rutger A J Nievelstein; Anneke I den Hollander; Ron Hochstenbach; Onno Van Nieuwenhuizen; Martin Poot
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.
Clinical dysmorphology 2011;20(3):136-42.
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: Annelien L Bredenoord; Hester Y Kroes; Edwin Cuppen; Michael Parker; Johannes J M van Delden
Disclosure of individual genetic data to research participants: the debate reconsidered.
Trends in genetics : TIG 2011;27(2):41-7.
2011: Barbara D'haene; Françoise Meire; Ilse Claerhout; Hester Y Kroes; Astrid Plomp; Yvonne H Arens; Thomy de Ravel; Ingele Casteels; Sarah De Jaegere; Sally Hooghe; Wim Wuyts; Jenneke van den Ende; Françoise Roulez; Hermine E Veenstra-Knol; Rogier A Oldenburg; Jacques Giltay; Johanna B G M Verheij; Jan-Tjeerd de Faber; Björn Menten; Anne De Paepe; Philippe Kestelyn; Bart P Leroy; Elfride De Baere
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
Investigative ophthalmology & visual science 2011;52(1):324-33.
2011: Judith C Booij; Arne Bakker; Jamilia Kulumbetova; Youssef Moutaoukil; Bert Smeets; Joke Verheij; Hester Y Kroes; Caroline C W Klaver; Mary J van Schooneveld; Arthur A B Bergen; Ralph J Florijn
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Ophthalmology 2011;118(1):160-167.e1-3.
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: Frauke Coppieters; Ingele Casteels; Françoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole Van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valérie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; H Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Human mutation 2010;31(10):E1709-66.
2010: Hester Y Kroes; Bert G A Van Zanten; Sander A De Ru; Maartje Boon; Grazia M S Mancini; Marjo S van der Knaap; Bwee Tien Poll-The; Dick Lindhout
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
International journal of pediatric otorhinolaryngology 2010;74(9):1034-8.
2010: Almuth Caliebe; Hester Y Kroes; Jasper J van der Smagt; José I Martin-Subero; Holger Tönnies; Ruben van 't Slot; Rutger A J Nievelstein; Hiltrud Muhle; Ulrich Stephani; Karsten Alfke; Irina Stefanova; Yorck Hellenbroich; Gabriele Gillessen-Kaesbach; Ron Hochstenbach; Reiner Siebert; Martin Poot
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
European journal of medical genetics 2010;53(4):179-85.
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: H M Engbers; R A J Nievelstein; R H J M Gooskens; Hester Y Kroes; Ron van Empelen; O Braams; Dienke Wittebol-Post; M M W B Hendriks; G Visser
The clinical utility of MRI in patients with neurodevelopmental disorders of unknown origin.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2010;17(6):815-22.
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: 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: Bert Callewaert; Bart Loeys; Anna Ficcadenti; Sascha Vermeer; Magnus Landgren; Hester Y Kroes; Yuval Yaron; Michael Pope; Nicola Foulds; Odile Boute; Francisco Galán; Helen Kingston; Nathalie Van der Aa; Iratxe Salcedo; Marielle E Swinkels; Carina Wallgren-Pettersson; Orazio Gabrielli; Julie De Backer; Paul J Coucke; Anne De Paepe
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Human mutation 2009;30(3):334-41.
2008: Martin Poot; Hester Y Kroes; Ron Hochstenbach
AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions.
European journal of medical genetics 2008;51(6):689-90.
2008: Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kveta Bláhová; Detlef Bockenhauer; DJ Fowler; Richard M Gregson; Iwona Maruniak-Chudek; Ana Medeira; Erica Laima Mendonça; Mikhail Kagan; Jens Koenig; Hermann Krastel; Hester Y Kroes; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietliński; Dorothy Thompson; Rene G VanDeVoorde; Dienke Wittebol-Post; Geoffrey Woodruff; Aleksandra Zurowska; Raoul Hennekam; Martin Zenker; Isabelle Russell-Eggitt
Ophthalmological aspects of Pierson syndrome.
American journal of ophthalmology 2008;146(4):602-611.
2008: Hannelie M Engbers; Ruud Berger; Peter van Hasselt; Tom J de Koning; Monique G M de Sain-Van Der Velden; Hester Y Kroes; Gepke Visser
Yield of additional metabolic studies in neurodevelopmental disorders.
Annals of neurology 2008;64(2):212-7.
2008: Hester Y Kroes; Patrick H A van Zon; Dietje Fransen van de Putte; Marcel R Nelen; Rutger-Jan Nievelstein; Dienke Wittebol-Post; Onno Van Nieuwenhuizen; Grazia M S Mancini; Marjo S van der Knaap; Mei Lan Kwee; Saskia M Maas; Jan Maarten Cobben; Jacques E E De Nef; Dick Lindhout; Richard J Sinke
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
European journal of medical genetics 2008;51(1):24-34.
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: Martin Poot; Hester Y Kroes; Suzanne E V D Wijst; Marc J Eleveld; Liesbeth Rooms; Rutger A J Nievelstein; Daniel Olde Weghuis; Rene C Vreuls; Gerard Hageman; Frank Kooy; Ron Hochstenbach
Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).
American journal of medical genetics. Part A 2007;143A(10):1038-44.
2005: Hester Y Kroes; Rutger-Jan A J Nievelstein; Peter G Barth; Peter Nikkels; Carsten Bergmann; R H J M Gooskens; Gepke Visser; Hans Kristian Ploos van Amstel; Frits A Beemer
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.
American journal of medical genetics. Part A 2005;135(3):297-301.
2005: Joke de Pater; Hester Y Kroes; M Verschuren; A C C van Oppen; J C M Albrechts; J J M Engelen
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences.
Prenatal diagnosis 2005;25(2):151-5.
2004: Hester Y Kroes; Richard S Olney; Aldo Rosano; Yinghui Liu; Eduardo E Castilla; Guido Cocchi; Catherine de Vigan; María Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Paul Merlob; Osvaldo M Mutchinick; Annukka Ritvanen; Claude Stoll; Anthonie J van Essen; Jan Maarten Cobben; Martina C Cornel
Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
American journal of medical genetics. Part A 2004;129A(2):149-55.
2004: Aaltje Schram; Hester Y Kroes; Krystyna M Sollie; Bert Timmer; Peter Barth; Ton van Essen
Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.
American journal of medical genetics. Part A 2004;127A(2):172-82.
2003: Hester Y Kroes; G Pals; Anthonie J van Essen
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.
Clinical genetics 2003;63(3):224-7.
2002: Hester Y Kroes; M Takahashi; R J Zijlstra; J A L L Baert; Krista A Kooi; Robert M W Hofstra; Anthonie J van Essen
Two cases of the caudal duplication anomaly including a discordant monozygotic twin.
American journal of medical genetics 2002;112(4):390-3.
2002: Hester Y Kroes; Jennita Reefhuis; Martina C Cornel
Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?
Epilepsia 2002;43(8):929-31.
2000: C Blanck; Juergen Kohlhase; S Engels; Peter Burfeind; Wolfgang Engel; Armand Bottani; M S Patel; Hester Y Kroes; Jan Maarten Cobben
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
Journal of medical genetics 2000;37(4):303-7.