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Saskia van der Velde-Visser

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Rob Wj Collin; Jean Bennett; Jeannette Bennicelli; Anneke I den Hollander; Saskia D van der Velde-Visser; Frans Pm Cremers
Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.
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.
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.

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All Publications

2012: Rob Wj Collin; Jean Bennett; Jeannette Bennicelli; Anneke I den Hollander; Saskia D van der Velde-Visser; Frans Pm Cremers
Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.
Molecular therapy. Nucleic acids 2012;1():e14.
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.
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.
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.
2001: Anna Simon; Laurence Cuisset; M F Vincent; Saskia D van der Velde-Visser; Marc Delpech; Jos W M van der Meer; Joost P H Drenth
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
Annals of internal medicine 2001;135(5):338-43.
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: Laurence Cuisset; Joost P H Drenth; Anna Simon; M F Vincent; Saskia D van der Velde-Visser; Jos W M van der Meer; Gilles Grateau; Marc Delpech
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
European journal of human genetics : EJHG 2001;9(4):260-6.
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.
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.
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: 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.