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Hans Scheffer

Research Profile

Physiology

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Anatomy

Chromosomes, Human, Pair 13

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Netherlands

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TOP 3
Charlotte D C C van der Heijden; Alejandro Arias-Vásquez; Guillen Fernandez; Barbara Franke; Marina Hakobjan; Mark Rijpkema; Hans Scheffer; Bart P C van de Warrenburg
Genetic Variation in Ataxia Gene ATXN7 Influences Cerebellar Grey Matter Volume in Healthy Adults.
Marka van Blitterswijk; Bart P van de Warrenburg; Hans Scheffer; Michael A van Es; Jacobus J van Hilten; Jan Veldink; Dagmar Verbaan; Leonard H Van den Berg
Mutational analysis of TARDBP in Parkinson's disease.
S T de Bot; Erik-Jan Kamsteeg; H P H Kremer; A R Mensenkamp; Hans Scheffer; Leonard H Van den Berg; Jan Veldink; Sascha Vermeer; Frans Brugman; Bart P C van de Warrenburg
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.

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2013: Charlotte D C C van der Heijden; Alejandro Arias-Vásquez; Guillen Fernandez; Barbara Franke; Marina Hakobjan; Mark Rijpkema; Hans Scheffer; Bart P C van de Warrenburg
Genetic Variation in Ataxia Gene ATXN7 Influences Cerebellar Grey Matter Volume in Healthy Adults.
Cerebellum (London, England) 2013;12(3):390-5.
2013: Marka van Blitterswijk; Bart P van de Warrenburg; Hans Scheffer; Michael A van Es; Jacobus J van Hilten; Jan Veldink; Dagmar Verbaan; Leonard H Van den Berg
Mutational analysis of TARDBP in Parkinson's disease.
Neurobiology of aging 2013;34(5):1517.e1-3.
2013: S T de Bot; Erik-Jan Kamsteeg; H P H Kremer; A R Mensenkamp; Hans Scheffer; Leonard H Van den Berg; Jan Veldink; Sascha Vermeer; Frans Brugman; Bart P C van de Warrenburg
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Journal of neurology 2013;260(3):869-75.
2012: Erik-Jan Kamsteeg; Wolfram Kress; Michael F Buckley; Claudio Catalli; Jens M Hertz; Marianne Schwartz; Baziel G M van Engelen; Martina Witsch-Baumgartner; Hans Scheffer
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
European journal of human genetics : EJHG 2012;20(12):1203-8.
2012: Joep de Ligt; Bert B A de Vries; Petra de Vries; Marisol del Rosario; Christian Gilissen; Alexander Hoischen; Tjitske Kleefstra; David A Koolen; Thessa Kroes; Hans Scheffer; Bregje W M van Bon; Joris Veltman; Anneke T Vulto-van Silfhout; Marjolein H Willemsen; Helger G Yntema; Han G Brunner; Lisenka E L M Vissers
Diagnostic exome sequencing in persons with severe intellectual disability.
The New England journal of medicine 2012;367(20):1921-9.
2012: Koen L I van Gassen; Jan H Veldink; Corien C Verschuuren-Bemelmans; Leonard H van den Berg; Charlotte D C C van der Heijden; Susanne T de Bot; Wilfred F A den Dunnen; Erik-Jan Kamsteeg; H P H Kremer; Hans Scheffer; Bart P C van de Warrenburg
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Brain : a journal of neurology 2012;135(Pt 10):2994-3004.
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: 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: Erik J M Toonen; Simon V van Reijmersdal; Piet L C M van Riel; Joris A Veltman; Alfons A den Broeder; A M M Eijsbouts; Barbara Franke; Christian Gilissen; W Kievit; Timothy R D J Radstake; Hans Scheffer; Pilar Barrera; Marieke Coenen
Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis.
PloS one 2012;7(3):e33199.
2011: Sascha Vermeer; M A A P Willemsen; M Cluitmans; Berry Kremer; Hans Scheffer; Bart P C van de Warrenburg; Nine V A M Knoers
Autosomal recessive cerebellar ataxias: the current state of affairs.
Journal of medical genetics 2011;48(10):651-9.
2011: Marieke Coenen; Alide A Tieleman; Mascha M V A P Schijvenaars; Maike Leferink; Laura P W Ranum; Hans Scheffer; Baziel G M van Engelen
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
European journal of human genetics : EJHG 2011;19(5):567-70.
2011: Peter C van den Akker; Jemima E Mellerio; Anna E Martinez; Lu Liu; Rowdy Meijer; Patricia J C Dopping-Hepenstal; Anthonie J van Essen; Hans Scheffer; Robert M W Hofstra; John A McGrath; Marcel F Jonkman
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
Journal of medical genetics 2011;48(3):160-7.
2010: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine V A M Knoers
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
American journal of human genetics 2010;87(6):813-9.
2010: S T de Bot; R T M van den Elzen; A R Mensenkamp; H Jurgen Schelhaas; M A A P Willemsen; N V A M Knoers; H P H Kremer; Bart P C van de Warrenburg; Hans Scheffer
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
Journal of neurology, neurosurgery, and psychiatry 2010;81(10):1073-8.
2010: Jeroen van Reeuwijk; M J W Olderode-Berends; Christa van den Elzen; O F Brouwer; T Roscioli; maria van pampus; Hans Scheffer; Han G Brunner; Hans van Bokhoven; Frans A Hol
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Clinical genetics 2010;78(3):275-81.
2010: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris Veltman
Massively parallel sequencing of ataxia genes after array-based enrichment.
Human mutation 2010;31(4):494-9.
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: Marieke Coenen; Christian Enevold; Pilar Barrera; Mascha M V A P Schijvenaars; Erik J M Toonen; Hans Scheffer; Leonid Padyukov; Alf Kastbom; Lars Klareskog; Anne Barton; W Kievit; Maarten J Rood; Tim L Jansen; Dorine W Swinkels; Piet L C M van Riel; Barbara Franke; Klaus Bendtzen; Timothy R D J Radstake
Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome.
PloS one 2010;5(12):e14326.
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: Tuula Rinne; Emine Bolat; Rowdy Meijer; Hans Scheffer; Hans van Bokhoven
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).
American journal of medical genetics. Part A 2009;149A(9):1948-51.
2009: Sanne Piepers; Jan Veldink; Sonja W de Jong; Ingeborg van der Tweel; W-Ludo van der Pol; Esther V Uijtendaal; H Jurgen Schelhaas; Hans Scheffer; Marianne De Visser; J M B V de Jong; J H J Wokke; Geert Jan Groeneveld; Leonard H Van den Berg
Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis.
Annals of neurology 2009;66(2):227-34.
2009: Frans Brugman; Hans Scheffer; H Jurgen Schelhaas; Willy M Nillesen; John H J Wokke; Bart P C van de Warrenburg; Leonard H Van den Berg
Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
Journal of neurology 2009;256(5):824-6.
2009: Barbara Franke; Sita H H M Vermeulen; Régine P M Steegers-Theunissen; Marieke Coenen; Mascha M V A P Schijvenaars; Hans Scheffer; Martin den Heijer; Henk J Blom
An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
Birth defects research. Part A, Clinical and molecular teratology 2009;85(3):216-26.
2009: Hans Mulder; Dan Cohen; Hans Scheffer; Christine C Gispen-de Wied; Johan Arends; Frederik W Wilmink; Barbara Franke; Toine Egberts
HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study.
Journal of clinical psychopharmacology 2009;29(1):16-20.
2008: Barbara Franke; M Hoogman; A Arias Vasquez; J G A M Heister; P J Savelkoul; M Naber; Hans Scheffer; L A Kiemeney; Cornelis C Kan; J J S Kooij; Jan K Buitelaar
Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(8):1576-9.
2008: Erik J M Toonen; Pilar Barrera; T R D J Radstake; P L C M van Riel; Hans Scheffer; B Franke; Marieke Coenen
Gene expression profiling in rheumatoid arthritis: current concepts and future directions.
Annals of the rheumatic diseases 2008;67(12):1663-9.
2008: Frans Brugman; Hans Scheffer; J H J Wokke; W M Nillesen; Marianne De Visser; E Aronica; Jan Veldink; Leonard H Van den Berg
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
Neurology 2008;71(19):1500-5.
2008: Sanne Piepers; Leonard H Van den Berg; Frans Brugman; Hans Scheffer; M Ruiterkamp-Versteeg; B G M van Engelen; C G Faber; Marianne De Visser; W-Ludo van der Pol; J H J Wokke
A natural history study of late onset spinal muscular atrophy types 3b and 4.
Journal of neurology 2008;255(9):1400-4.
2008: Carlo L M Marcelis; Frans A Hol; Gail E Graham; Paul N M A Rieu; Richard Kellermayer; Rowdy P P Meijer; Dorien Lugtenberg; Hans Scheffer; Hans van Bokhoven; Han G Brunner; Arjan de Brouwer
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Human mutation 2008;29(9):1125-32.
2008: Erik J M Toonen; Marieke Coenen; W Kievit; Jaap Fransen; A M M Eijsbouts; Hans Scheffer; Timothy Radstake; M C W Creemers; D-J R A M de Rooij; P L C M van Riel; B Franke; Pilar Barrera
The tumour necrosis factor receptor superfamily member 1b 676T>G polymorphism in relation to response to infliximab and adalimumab treatment and disease severity in rheumatoid arthritis.
Annals of the rheumatic diseases 2008;67(8):1174-7.
2008: Sascha Vermeer; Rowdy P P Meijer; Benjamin J Pijl; Janneke Timmermans; J R M Cruysberg; Maaike M Bos; H Jurgen Schelhaas; Bart P C van de Warrenburg; Nine V A M Knoers; Hans Scheffer; Berry Kremer
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Neurogenetics 2008;9(3):207-14.
2008: Tuula Rinne; Suzanne E Clements; Evert Lamme; Pascal Duijf; Emine Bolat; Rowdy Meijer; Hans Scheffer; Elisabeth Rosser; Tiong Yang Tan; John A McGrath; Joost Schalkwijk; Han G Brunner; Huiqing Zhou; Hans van Bokhoven
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Human molecular genetics 2008;17(13):1968-77.
2007: S Vermeer; H P H Kremer; Q H Leijten; Hans Scheffer; Gert Matthijs; Ron A Wevers; N A V M Knoers; Eva Morava; Dirk J Lefeber
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
Journal of neurology 2007;254(10):1356-8.
2007: Hans Mulder; Barbara Franke; A Aart van der-Beek van der; J Arends; Frederik W Wilmink; Toine Egberts; Hans Scheffer
The association between HTR2C polymorphisms and obesity in psychiatric patients using antipsychotics: a cross-sectional study.
The pharmacogenomics journal 2007;7(5):318-24.
2007: Jörg Klepper; Volkher Engelbrecht; Hans Scheffer; Marjo S van der Knaap; Andreas Fiedler
GLUT1 deficiency with delayed myelination responding to ketogenic diet.
Pediatric neurology 2007;37(2):130-3.
2007: Hans Mulder; Barbara Franke; Annemarie Aart van der-Beek van der; Johan Arends; Frederik W Wilmink; Hans Scheffer; Toine Egberts
The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia.
Journal of clinical psychopharmacology 2007;27(4):338-43.
2007: Bart P C van de Warrenburg; Hans Scheffer; Peter Heutink; Bastiaan R Bloem
[Parkinson's disease(s): recent insight into genetic factors].
Nederlands tijdschrift voor geneeskunde 2007;151(30):1665-8.
2007: Marieke Coenen; Erik J M Toonen; Hans Scheffer; Timothy Radstake; Pilar Barrera; Barbara Franke
Pharmacogenetics of anti-TNF treatment in patients with rheumatoid arthritis.
Pharmacogenomics 2007;8(7):761-73.
2006: Maaike M Bos; Sebastiaan Overeem; B G M van Engelen; Hans Scheffer; Christa van den Elzen; Henk ter Laak; Martin Lammens; H Jurgen Schelhaas; Machiel J Zwarts
A case of neuromuscular mimicry.
Neuromuscular disorders : NMD 2006;16(8):510-3.
2006: H Jurgen Schelhaas; Bart P C van de Warrenburg; Maaike M Bos; Catarina J Houtman; Hans Scheffer; A A W M Gabreëls-Festen; Berry Kremer; Machiel J Zwarts
Neurophysiologic studies in early-onset cerebellar ataxia.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2006;23(4):381-7.
2006: Jeroen van Reeuwijk; Svetlana Maugenre; Christa van den Elzen; Aad Verrips; Enrico Bertini; Francesco Muntoni; Luciano Merlini; Hans Scheffer; Han G Brunner; Pascale Guicheney; Hans van Bokhoven
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Human mutation 2006;27(5):453-9.
2006: Bart P C van de Warrenburg; Hans Scheffer; Jeroen J J van Eijk; Martina H A Versteeg; Hannie Kremer; Machiel J Zwarts; H Jurgen Schelhaas; B G M van Engelen
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
Neuromuscular disorders : NMD 2006;16(2):122-5.
2005: Frans Brugman; J H J Wokke; Hans Scheffer; Martina H A Versteeg; Erik A Sistermans; Leonard H Van den Berg
Spastin mutations in sporadic adult-onset upper motor neuron syndromes.
Annals of neurology 2005;58(6):865-9.
2005: Jeroen van Reeuwijk; M Janssen; Christa van den Elzen; D Beltran-Valero de Bernabé; Patrizia Sabatelli; Luciano Merlini; M Boon; Hans Scheffer; Martin Brockington; F Muntoni; M A Huynen; Aad Verrips; Christopher Walsh; P G Barth; Han G Brunner; Hans van Bokhoven
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
2005: Jörg Klepper; Hans Scheffer; Bärbel Leiendecker; Elena Gertsen; S Binder; M Leferink; Christoph Hertzberg; A Näke; Thomas Voit; Michèl A A P Willemsen
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
Neuropediatrics 2005;36(5):302-8.
2005: George Shabo; Hans Scheffer; J R M Cruysberg; Martin Lammens; Jaco W Pasman; Maarten Spruit; Michèl A A P Willemsen
Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
Pediatric neurology 2005;33(4):277-9.
2005: Jan Veldink; Sandra Kalmijn; Annemarie H Van Der Hout; H H Lemmink; Geert Jan Groeneveld; C Lummen; Hans Scheffer; J H J Wokke; Leonard H Van den Berg
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
Neurology 2005;65(6):820-5.
2004: Anna Simon; H P H Kremer; Ron A Wevers; Hans Scheffer; Jan G N de Jong; J W M Van Der Meer; Joost P H Drenth
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Neurology 2004;62(6):994-7.
2004: Hans Scheffer
Spinal muscular atrophy.
Methods in molecular medicine 2004;92():343-58.
2003: Petra H L Schuilenga-Hut; Pieter v d Vlies; Marcel F Jonkman; Esmé Waanders; Charles H C M Buys; Hans Scheffer
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Human mutation 2003;21(4):447.
2002: Annemarie H Van Der Hout; Edwin Verlind; Frits A Beemer; Charles H C M Buys; Robert M W Hofstra; Hans Scheffer
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
Human mutation 2002;20(3):236.
2002: Petra H L Schuilenga-Hut; Hans Scheffer; Hendri H Pas; Miranda Nijenhuis; Charles H C M Buys; Marcel F Jonkman
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.
The Journal of investigative dermatology 2002;118(4):626-30.
2002: Bart P C van de Warrenburg; Richard J Sinke; C C Verschuuren-Bemelmans; Hans Scheffer; Ewout R Brunt; PF Ippel; JA Maat-Kievit; Dennis Dooijes; Nicolette C Notermans; Dick Lindhout; Nine V A M Knoers; H P H Kremer
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
Neurology 2002;58(5):702-8.
2001: Jan Maarten Cobben; M de Visser; Hans Scheffer
[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy].
Nederlands tijdschrift voor geneeskunde 2001;145(52):2525-7.
2001: Hans Scheffer; Jan Maarten Cobben; G Matthijs; B Wirth
Best practice guidelines for molecular analysis in spinal muscular atrophy.
European journal of human genetics : EJHG 2001;9(7):484-91.
2001: Hans Scheffer; Saskia M Imhof; Annette C Moll
[From gene to disease; retinoblastoma and the RB1 gene].
Nederlands tijdschrift voor geneeskunde 2001;145(26):1245-7.
2001: Gerrit van der Steege; Petra H L Schuilenga-Hut; Charles H C M Buys; Hans Scheffer; Hendri H Pas; Marcel F Jonkman
Persistent failures in gene repair.
Nature biotechnology 2001;19(4):305-6.
2001: Jan Veldink; Leonard H Van den Berg; Jan Maarten Cobben; Rein P Stulp; J M B V de Jong; O J M Vogels; Frank Baas; J H J Wokke; Hans Scheffer
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS.
Neurology 2001;56(6):749-52.
2000: Hans Scheffer; Pieter van der Vlies; M Burton; Edwin Verlind; Annette C Moll; Saskia M Imhof; Charles H C M Buys
Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense.
Journal of medical genetics 2000;37(7):E6.
2000: Jan Peter Rake; AM ten Berge; Gepke Visser; Edwin Verlind; Klary E Niezen-Koning; Charles H C M Buys; G Peter A Smit; Hans Scheffer
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
European journal of pediatrics 2000;159(5):322-30.
2000: Jan Peter Rake; AM ten Berge; Gepke Visser; Edwin Verlind; Klary E Niezen-Koning; Charles H C M Buys; G Peter A Smit; Hans Scheffer
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
Human mutation 2000;15(4):381.
2000: P H Hut; P v d Vlies; Marcel F Jonkman; Edwin Verlind; H Shimizu; Charles H C M Buys; Hans Scheffer
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.
The Journal of investigative dermatology 2000;114(4):616-9.
2000: Hans Scheffer; Jan Maarten Cobben; R G Mensink; Rein P Stulp; Gerrit van der Steege; Charles H C M Buys
SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.
European journal of human genetics : EJHG 2000;8(2):79-86.
1999: Ute Moog; C E M de Die-Smulders; Hans Scheffer; Pieter van der Vlies; Cécile Henquet; M F Jonkman
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
American journal of medical genetics 1999;86(4):376-9.
1999: R Hordijk; H Wierenga; Hans Scheffer; B Leegte; Robert M W Hofstra; I Stolte-Dijkstra
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.
Journal of medical genetics 1999;36(10):782-5.
1999: M J Berends; R Hordijk; Hans Scheffer; Jan C Oosterwijk; D J J Halley; N Sorgedrager
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.
American journal of medical genetics 1999;84(1):76-9.
1999: Jan Peter Rake; AM ten Berge; Edwin Verlind; Gepke Visser; Klary E Niezen-Koning; Charles H C M Buys; G Peter A Smit; Hans Scheffer
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
Human mutation 1999;13(2):173.
1998: J M Collée; HG de Vries; Hans Scheffer; D J Halley; Leo P ten Kate
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country.
Human genetics 1998;102(5):587-90.
1998: Hans Scheffer; Ewout R Brunt; G J Mol; Pieter van der Vlies; Rein P Stulp; Edwin Verlind; G Mantel; Y N Averyanov; Robert M W Hofstra; Charles H C M Buys
Three novel KCNA1 mutations in episodic ataxia type I families.
Human genetics 1998;102(4):464-6.
1997: Anne Dørum; Pål Møller; E J Kamsteeg; Hans Scheffer; M Burton; Ketil Heimdal; Lovise Maehle; Eivind Hovig; Claes G Tropé; Annemarie H Van Der Hout; MA van der Meulen; Charles H C M Buys; Gerard te Meerman
A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing.
European journal of cancer (Oxford, England : 1990) 1997;33(14):2390-2.
1997: Anthonie J van Essen; A L J Kneppers; Annemarie H Van Der Hout; Hans Scheffer; Ieke B Ginjaar; Leo P ten Kate; Gert-Jan B van Ommen; Charles H C M Buys; Egbert Bakker
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Journal of medical genetics 1997;34(10):805-12.
1997: Hans Scheffer; Rein P Stulp; Edwin Verlind; MA van der Meulen; L Bruckner-Tuderman; T Gedde-Dahl; Gerard te Meerman; A Sonnenberg; Charles H C M Buys; Marcel F Jonkman
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.
Human genetics 1997;100(2):230-5.
1997: Marcel F Jonkman; Hans Scheffer; Rein P Stulp; Hendri H Pas; Miranda Nijenhuis; K Heeres; K Owaribe; Leena Pulkkinen; Jouni Uitto
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Cell 1997;88(4):543-51.
1997: HG de Vries; J M Collée; H E K de Walle; M H van Veldhuizen; C T Smit Sibinga; Hans Scheffer; Leo P ten Kate
Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring.
Human genetics 1997;99(1):74-9.
1996: Marcel F Jonkman; K Heeres; Hendri H Pas; Marja J A van Luyn; J D Elema; Laura D Corden; Frances J D Smith; W H Irwin McLean; F C Ramaekers; M Burton; Hans Scheffer
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.
The Journal of investigative dermatology 1996;107(5):764-9.
1996: G van der Steege; P M Grootscholten; J M Cobben; S Zappata; Hans Scheffer; Johan T den Dunnen; Gert-Jan B van Ommen; Christina Brahe; Charles H C M Buys
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
American journal of human genetics 1996;59(4):834-8.
1996: H G de Vries; MA van der Meulen; R Rozen; D J J Halley; Hans Scheffer; Leo P ten Kate; Charles H C M Buys; Gerard te Meerman
Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations.
Human genetics 1996;98(3):304-9.
1996: Hans Scheffer
Search for genes predisposing to atopic diseases.
Lancet 1996;348(9027):560-1.
1996: H G de Vries; Klary E Niezen-Koning; J W Kliphuis; G Peter A Smit; Hans Scheffer; Leo P ten Kate
Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.
Human genetics 1996;98(1):1-2.
1996: N J Van Orsouw; D Li; Pieter van der Vlies; Hans Scheffer; Charis Eng; Charles H C M Buys; Frederick P Li; Jan Vijg
Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.
Human molecular genetics 1996;5(6):755-61.
1996: H G de Vries; J M Collèe; M H van Veldhuizen; L Achterhof; C T Smit Sibinga; Hans Scheffer; Charles H C M Buys; Leo P ten Kate
Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashes.
Human genetics 1996;97(3):334-6.
1996: J M Cobben; Hans Scheffer; Marianne De Visser; G Van der Steege; J B Verhey; Jan Osinga; M Burton; R G Mensink; P M Grootscholten; Leo P ten Kate; Charles H C M Buys
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis.
European journal of human genetics : EJHG 1996;4(4):231-6.
1996: Y Wu; Robert M W Hofstra; Hans Scheffer; André G Uitterlinden; E Mullaart; Charles H C M Buys; Jan Vijg
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
Human mutation 1996;8(2):160-7.
1995: C C Verschuuren-Bemelmans; E R Brunt; M Burton; R G Mensink; MA van der Meulen; N H Smit; I Stolte-Dijkstra; Charles H C M Buys; Hans Scheffer
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I.
Human genetics 1995;96(6):691-4.
1995: G van der Steege; J M Cobben; Jan Osinga; Hans Scheffer; Gert-Jan B van Ommen; Charles H C M Buys
A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.
Human genetics 1995;96(5):589-91.
1995: J M Cobben; G van der Steege; P Grootscholten; Marianne De Visser; Hans Scheffer; Charles H C M Buys
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
American journal of human genetics 1995;57(4):805-8.
1995: W J Lubbers; E R Brunt; Hans Scheffer; M Litt; Rein P Stulp; D L Browne; T W van Weerden
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
Journal of neurology, neurosurgery, and psychiatry 1995;59(4):400-5.
1995: R Frank Kooy; Edwin Verlind; A Wijngaard; D N Shapiro; Hans Scheffer; Charles H C M Buys
A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND.
Human genetics 1995;95(5):589.
1995: H G de Vries; J M Collée; W P Meeuwsen; Hans Scheffer; Leo P ten Kate
Number and sex of offspring of delta F508 carriers outside cystic fibrosis families.
Human genetics 1995;95(5):575-6.
1995: G van der Steege; P M Grootscholten; Pieter van der Vlies; TG Draaijers; Jan Osinga; J M Cobben; Hans Scheffer; Charles H C M Buys
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.
Lancet 1995;345(8955):985-6.
1995: R Frank Kooy; A Wijngaard; Edwin Verlind; Hans Scheffer; Charles H C M Buys
An integrated map of human chromosome 13 allowing regional localization of genetic markers.
European journal of human genetics : EJHG 1995;3(3):180-7.
1995: G van der Steege; TG Draaijers; P M Grootscholten; Jan Osinga; R Anzevino; I Velonà; Johan T den Dunnen; Hans Scheffer; Christina Brahe; Gert-Jan B van Ommen
A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
European journal of human genetics : EJHG 1995;3(2):87-95.
1994: G van der Steege; J M Cobben; Christina Brahe; Jan Osinga; S Zappata; Hans Scheffer; Giovanni Neri; Gert-Jan B van Ommen; Leo P ten Kate; Charles H C M Buys
Identification of key recombinants in multiplex SMA families.
Genomics 1994;22(1):219-22.
1994: J M Cobben; Hans Scheffer; Marianne De Visser; J H Begeer; W M Molenaar; G van der Steege; Charles H C M Buys; Gert-Jan B van Ommen; Leo P ten Kate
Apparent SMA I unlinked to 5q.
Journal of medical genetics 1994;31(3):242-4.
1994: R Frank Kooy; Edwin Verlind; R H Houwen; D N Shapiro; L A Hawthorn; John Kenneth Cowell; Hans Scheffer; Charles H C M Buys
A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals.
European journal of human genetics : EJHG 1994;2(1):59-65.
1994: R Frank Kooy; A Wijngaard; Edwin Verlind; Gilles Vergnaud; Hans Scheffer; Charles H C M Buys
The EUROGEM map of human chromosome 13.
European journal of human genetics : EJHG 1994;2(3):228-9.
1994: D J Dijkstra; Hans Scheffer; Charles H C M Buys
A novel mutation (G1249R) in exon 20 of the CFTR gene.
Human mutation 1994;4(2):161-2.
1993: J M Collée; L P ten Kate; H G de Vries; J W Kliphuis; K Bouman; Hans Scheffer; Jorrit Gerritsen
Allele sharing on chromosome 11q13 in sibs with asthma and atopy.
Lancet 1993;342(8876):936.
1993: J M Cobben; Hans Scheffer; Marianne De Visser; Jan Osinga; R Frants; G van der Steege; Cisca Wijmenga; Leo P ten Kate; Gert-Jan B van Ommen; Charles H C M Buys
Linkage and apparent heterogeneity in proximal spinal muscular atrophies.
Neuromuscular disorders : NMD 1993;3(4):327-33.
1993: R Frank Kooy; Anneke Y van der Veen; Edwin Verlind; R H Houwen; Hans Scheffer; Charles H C M Buys
Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13.
Human genetics 1993;91(5):504-6.
1993: J M Cobben; Marianne De Visser; Hans Scheffer; Jan Osinga; G van der Steege; Charles H C M Buys; Gert-Jan B van Ommen; Leo P ten Kate
Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.
Journal of neurology, neurosurgery, and psychiatry 1993;56(3):319-21.
1992: H Y Kroes; Hans Scheffer; Leo P ten Kate
[Carrier detection in cystic fibrosis. Various illustrative examples].
Tijdschrift voor kindergeneeskunde 1992;60(6):226-30.
1992: P T Reuvekamp; Rein P Stulp; HS Schraffordt Koops; J Wolter Oosterhuis; Hans Scheffer; Charles H C M Buys
Analysis of a metastasizing testicular mixed gonadal stromal tumor with osteosarcoma components suggests that a malignant tumor with the histology of osteosarcoma may develop without primary involvement of RB1 and TP53.
Cancer research 1992;52(23):6705-7.
1992: Hans Scheffer; R H Houwen; Gerard te Meerman; J Loessner; B Bachmann; E Kunert; Edwin Verlind; Charles H C M Buys
Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene.
Human genetics 1992;89(6):607-11.
1991: Anthonie J van Essen; Klaas Kok; Anke Van den Berg; Bauke de Jong; F Stellink; A F Bos; Hans Scheffer; Charles H C M Buys
Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.
Human genetics 1991;87(2):151-4.
1991: Hans Scheffer; Y C Kruize; Jan Osinga; G Kuiken; J Wolter Oosterhuis; J A Leeuw; HS Schraffordt Koops; Charles H C M Buys
Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma.
Cancer genetics and cytogenetics 1991;53(1):45-55.
1991: Leo P ten Kate; Hans Scheffer; Martina C Cornel; J G van Lookeren Campagne
Consanguinity sans reproche.
Human genetics 1991;86(3):295-6.
1990: R H Houwen; Hans Scheffer; Gerard te Meerman; Pieter van der Vlies; Charles H C M Buys
Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.
Human genetics 1990;85(5):560-2.
1990: Hans Scheffer; David Bruinvels; Gerard te Meerman; Edwin Verlind; D Penninga; J Dankert; Leo P ten Kate; Charles H C M Buys
Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium.
Human genetics 1990;85(4):425-7.
1989: Anne M Bowcock; J M Hebert; Hans Scheffer; D Penninga; Charles H C M Buys
The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI.
Nucleic acids research 1989;17(20):8399.
1989: Anne M Bowcock; J M Hebert; Hans Scheffer; D Penninga; Charles H C M Buys
The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2.
Nucleic acids research 1989;17(20):8398.
1989: Hans Scheffer; Gerard te Meerman; Y C Kruize; Anke Van den Berg; D P Penninga; K E Tan; D J der Kinderen; Charles H C M Buys
Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene.
American journal of human genetics 1989;45(2):252-60.
1988: Anne M Bowcock; Lindsay A Farrer; J M Hebert; M Agger; I Sternlieb; I H Scheinberg; Charles H C M Buys; Hans Scheffer; M Frydman; T Chajek-Saul
Eight closely linked loci place the Wilson disease locus within 13q14-q21.
American journal of human genetics 1988;43(5):664-74.
1987: Hans Scheffer; Ido P Kema; I Kondo; Anneke Y van der Veen; T Ikeuchi; Charles H C M Buys
Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease.
Human genetics 1987;77(4):335-7.
1987: A M Bowcock; Hans Scheffer; J M Hebert; J H van den Berg; C H Buys
A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22].
Nucleic acids research 1987;15(1):382.
1986: Hans Scheffer; D van der Lelie; G H Aanstoot; N Goor; A J Nienhaus; Annemarie H Van Der Hout; P L Pearson; Charles H C M Buys
A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus.
Human genetics 1986;74(3):249-55.
1986: Hans Scheffer; D Penninga; N Goor; P L Pearson; Charles H C M Buys
A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12].
Nucleic acids research 1986;14(10):4374.
1986: Hans Scheffer; D Penninga; N Goor; P L Pearson; Charles H C M Buys
An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11].
Nucleic acids research 1986;14(7):3148.