Publications by authors named "Elly Ippel"

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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Marijn F Stokman, Bert van der Zwaag, Nicole C A J van de Kar, Mieke M van Haelst, Albertien M van Eerde, Elly Ippel

Pediatr Nephrol· October 2018

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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Elly Ippel

Brain· November 2017

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Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Sjors Middelkamp, Sebastiaan van Heesch, A Koen Braat, Joep de Ligt, Maarten van Iterson, Elly F Ippel

Genome Med· January 2017

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Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
Nienke E Verbeek, Nicoline A T van der Maas, Anja C M Sonsma, Elly Ippel, Patricia E Vermeer-de Bondt

Neurology· August 2015

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Genomic and functional overlap between somatic and germline chromosomal rearrangements.
Sebastiaan van Heesch, Marieke Simonis, Markus J van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Elly Ippel

Cell Rep· December 2014

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Complete FXN deletion in a patient with Friedreich's ataxia.
Ans M W van den Ouweland, Rick van Minkelen, Galhana M Bolman, Cokkie H Wouters, Cindy Becht-Noordermeer, Elly P F Ippel

Genet Test Mol Biomarkers· September 2012

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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Wigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Elly F Ippel

Cell Rep· June 2012

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Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results.
Mathieu W Lenders, Mervyn D Vergouwen, Gerard Hageman, Joffrey A van der Hoek, Elly F Ippel

Eur J Paediatr Neurol· January 2006

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Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.
Dineke S Verbeek, Sytse J Piersma, Eric F A M Hennekam, Elly F Ippel, Peter L Pearson

Eur J Hum Genet· June 2004

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Cognitive impairment in SCA-19.
H Jurgen Schelhaas, Bart P C van de Warrenburg, Gerard Hageman, Elly E Ippel, Monique van Hout

Acta Neurol Belg· December 2003

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Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
Dineke S Verbeek, Jurgen H Schelhaas, Elly F Ippel, Frits A Beemer, Peter L Pearson

Hum Genet· October 2002

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