1 - 25 of 49 results for author:"Scheffer H." in Literature citations
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| Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. van Gassen K.L., van der Heijden C.D., de Bot S.T., den Dunnen W.F., van den Berg L.H., Verschuuren-Bemelmans C.C., Kremer H.P., Veldink J.H., Kamsteeg E.J., Scheffer H. et al. Brain 135:2994-3004(2012) · Mapped (4) |
| Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Koolen D.A., Kramer J.M., Neveling K., Nillesen W.M., Moore-Barton H.L., Elmslie F.V., Toutain A., Amiel J., Malan V., Tsai A.C. et al. Nat. Genet. 44:639-641(2012) · Mapped (4) |
| Next-generation genetic testing for retinitis pigmentosa. Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L., Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J. et al. Hum. Mutat. 33:963-972(2012) · UniProtKB (9) |
| Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. van Es M.A., Schelhaas H.J., van Vught P.W., Ticozzi N., Andersen P.M., Groen E.J., Schulte C., Blauw H.M., Koppers M., Diekstra F.P. et al. Ann. Neurol. 70:964-973(2011) · Mapped (3) |
| Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Estrada-Cuzcano A., Neveling K., Kohl S., Banin E., Rotenstreich Y., Sharon D., Falik-Zaccai T.C., Hipp S., Roepman R., Wissinger B. et al. Am. J. Hum. Genet. 90:102-109(2012) · UniProtKB (3) · Mapped (1) |
| The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. Ergin H., Semerci C.N., Karakus Y.T., Scheffer H., Ergin S., Koltuksuz U., Meijer R., Satiroglu-Tufan N.L. Turk. J. Pediatr. 52:529-533(2010) · Mapped (4) |
| Genome-wide association study confirms extant PD risk loci among the Dutch. Simon-Sanchez J., van Hilten J.J., van de Warrenburg B., Post B., Berendse H.W., Arepalli S., Hernandez D.G., de Bie R.M., Velseboer D., Scheffer H. et al. Eur. J. Hum. Genet. 19:655-661(2011) · Mapped (9) |
| Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. Coenen M.J., Tieleman A.A., Schijvenaars M.M., Leferink M., Ranum L.P., Scheffer H., van Engelen B.G. Eur. J. Hum. Genet. 19:567-570(2011) · Mapped (6) |
| The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. van den Akker P.C., Mellerio J.E., Martinez A.E., Liu L., Meijer R., Dopping-Hepenstal P.J., van Essen A.J., Scheffer H., Hofstra R.M., McGrath J.A. et al. J. Med. Genet. 48:160-167(2011) · Mapped (2) |
| Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Vermeer S., Hoischen A., Meijer R.P., Gilissen C., Neveling K., Wieskamp N., de Brouwer A., Koenig M., Anheim M., Assoum M. et al. Am. J. Hum. Genet. 87:813-819(2010) · UniProtKB (1) · Mapped (4) |
| Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. de Bot S.T., van den Elzen R.T., Mensenkamp A.R., Schelhaas H.J., Willemsen M.A., Knoers N.V., Kremer H.P., van de Warrenburg B.P., Scheffer H. J. Neurol. Neurosurg. Psych. 81:1073-1078(2010) · UniProtKB (1) · Mapped (3) |
| A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Van Reeuwijk J., Olderode-Berends M.J., Van den Elzen C., Brouwer O.F., Roscioli T., Van Pampus M.G., Scheffer H., Brunner H.G., Van Bokhoven H., Hol F.A. Clin. Genet. 78:275-281(2010) · Mapped (1) |
| Autosomal recessive inheritance of GLUT1 deficiency syndrome. Klepper J., Scheffer H., Elsaid M.F., Kamsteeg E.J., Leferink M., Ben-Omran T. Neuropediatrics 40:207-210(2009) · UniProtKB (1) · Mapped (5) |
| Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Nikopoulos K., Gilissen C., Hoischen A., van Nouhuys C.E., Boonstra F.N., Blokland E.A., Arts P., Wieskamp N., Strom T.M., Ayuso C. et al. Am. J. Hum. Genet. 86:240-247(2010) · UniProtKB (1) |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Leen W.G., Klepper J., Verbeek M.M., Leferink M., Hofste T., van Engelen B.G., Wevers R.A., Arthur T., Bahi-Buisson N., Ballhausen D. et al. Brain 133:655-670(2010) · UniProtKB (1) |
| Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). Rinne T., Bolat E., Meijer R., Scheffer H., van Bokhoven H. Am. J. Med. Genet. A 149A:1948-1951(2009) · Mapped (4) |
| Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. van den Akker P.C., van Essen A.J., Kraak M.M., Meijer R., Nijenhuis M., Meijer G., Hofstra R.M., Pas H.H., Scheffer H., Jonkman M.F. J. Dermatol. Sci. 56:9-18(2009) · Mapped (2) |
| Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Boonstra F.N., van Nouhuys C.E., Schuil J., de Wijs I.J., van der Donk K.P., Nikopoulos K., Mukhopadhyay A., Scheffer H., Tilanus M.A.D., Cremers F.P.M. et al. Invest. Ophthalmol. Vis. Sci. 50:4379-4385(2009) · UniProtKB (2) |
| Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). Janssens S., Defoort P., Vandenbroecke C., Scheffer H., Mortier G. Genet. Couns. 19:433-437(2008) · Mapped (4) |
| An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Franke B., Vermeulen S.H., Steegers-Theunissen R.P., Coenen M.J., Schijvenaars M.M., Scheffer H., den Heijer M., Blom H.J. Birth Defects Res. Part A Clin. Mol. Teratol. 85:216-226(2009) · Mapped (193) |
| HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study. Mulder H., Cohen D., Scheffer H., Gispen-de Wied C., Arends J., Wilmink F.W., Franke B., Egberts A.C. J Clin Psychopharmacol 29:16-20(2009) · Mapped (1) |
| Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD. Franke B., Hoogman M., Arias Vasquez A., Heister J.G., Savelkoul P.J., Naber M., Scheffer H., Kiemeney L.A., Kan C.C., Kooij J.J. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B:1576-1579(2008) · Mapped (3) |
| Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Brugman F., Scheffer H., Wokke J.H., Nillesen W.M., de Visser M., Aronica E., Veldink J.H., van den Berg L.H. Neurology 71:1500-1505(2008) · Mapped (4) |
| Genotype-phenotype correlations in MYCN-related Feingold syndrome. Marcelis C.L., Hol F.A., Graham G.E., Rieu P.N., Kellermayer R., Meijer R.P., Lugtenberg D., Scheffer H., van Bokhoven H., Brunner H.G. et al. Hum. Mutat. 29:1125-1132(2008) · Mapped (7) |
| ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Vermeer S., Meijer R.P., Pijl B.J., Timmermans J., Cruysberg J.R., Bos M.M., Schelhaas H.J., van de Warrenburg B.P., Knoers N.V., Scheffer H. et al. Neurogenetics 9:207-214(2008) · UniProtKB (1) |