Search Results - "van Beersum, S"

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts by Barrow, L L, van Bokhoven, H, Daack-Hirsch, S, Andersen, T, van Beersum, S E C, Gorlin, R, Murray, J C

“…EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been…”
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Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1 : evidence for genetic heterogeneity by MARIMAN, E. C. M, VAN BEERSUM, S. E. C, CREMERS, C. W. R. J, STRUYCKEN, P. M, ROPERS, H. H

“…Autosomal, dominantly inherited, non-chromaffin paragangliomas are tumors of the head and neck region occurring with a frequency of 1:30,000. Genomic…”
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Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation by LENSSEN, P. P. A, GABREËLS-FESTEN, A. A. W. M, VALENTIJN, L. J, JONGEN, P. J. H, VAN BEERSUM, S. E. C, VAN ENGELEN, B. G. M, VAN WENSEN, P. J. M, BOLHUIS, P. A, GABREËLS, F. J. M, MARIMAN, E. C. M

“…In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.2 deletion was absent, but single strand conformation-analysis…”
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The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome by BONGERS, ERNIE M H F, VAN BOKHOVEN, HANS, VAN THIENEN, MARIE-NOËLLE, KOOYMAN, MARINUS A P, VAN BEERSUM, SYLVIA E C, BOETES, CARLA, KNOERS, NINE V A M, HAMEL, BEN C J

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Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q by MARIMAN, E. C. M, VAN BEERSUM, S. E. C, CREMERS, C. W. R. J, VAN BAARS, F. M, ROPERS, H. H

“…The gene for autosomal, dominantly inherited, non-chromaffin paragangliomas has previously been mapped at 11q23-qter by linkage analysis of a single family. In…”
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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies by Mariman, E C, Gabreëls-Festen, A A, van Beersum, S E, Valentijn, L J, Baas, F, Bolhuis, P A, Jongen, P J, Ropers, H H, Gabreëls, F J

“…Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder of the peripheral nerves leading to increased susceptibility…”
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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome by Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

“…Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart…”
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Refined Genetic and Physical Localization of the Wagner Disease (WGN1) Locus and the Genes CRTL1 and CSPG2 to a 2- to 2.5-cM Region of Chromosome 5q14.3 by Perveen, Rahat, Hart-Holden, Niki, Dixon, Michael J., Wiszniewski, Wojtek, Fryer, Alan E., Brunner, Han G., Pinkners, Alfred J.L.H., van Beersum, Sylvie E.C., Black, Graeme C.M.

“…Wagner syndrome (WGN1; MIM 143200), an autosomal dominant vitreoretinopathy characterized by chorioretinal atrophy, cataract, and retinal detachment, is linked…”
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Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies by MARIMAN, E. C. M, GABREËLS-FESTEN, A. A. W. M, VAN BEERSUM, S. E. C, JONGEN, P. J. H, VAN DE LOOIJ, E, BAAS, F, BOLHUIS, P. A, ROPERS, H. H, GABREËLS, F. J. M

“…Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified…”
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PDZD7 connects the Usher protein complex to the intraflagellar transport machinery by Vrieze, E De, Creemers, L, Sorusch, N, Gorris, M, Reeuwijk, J Van, Beersum, S Van, Knapp, B, Boldt, K, Ueffing, M, Roepman, R, Wijk, E Van, Wolfram, U, Kremer, H

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Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics by Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Horn, N, Beersum, S Van, Texier, Y, Nguyen, TM, Willer, JR, Katsanis, N, Képès, F, Russell, RB, Ueffing, M, Roepman, R

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33 by Gabreëls-Festen, Anneke, van Beersum, Sylvia, Eshuis, Lilian, LeGuern, Eric, Gabreëls, Fons, van Engelen, Baziel, Mariman, Edwin

“…OBJECTIVES To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23–33 in…”
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Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease by GABREËLS-FESTEN, A. A. W. M, HOOGENDIJK, J. E, VAN ENGELEN, B. G. M, VAN BROECKHOVEN, C, MARIMAN, E. C. M, MEIJERINK, P. H. S, GABREËLS, F. J. M, BOLHUIS, P. A, VAN BEERSUM, S, KULKENS, T, NELIS, E, JENNEKENS, F. G. I, DE VISSER, M

“…In seven unrelated patients with a demyelinating motor and sensory neuropathy, we found mutations in exons 2 and 3 of the P0 gene. Morphologic examination of…”
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A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2) by Muragaki, Yasuteru, Warman, Matthew L, van Beersum, Sylvia E.C, Mariman, Edwin C.M, Hamel, Ben C.J, Perälä, Merja, van Mourik, Jan B.A, Olsen, Bjorn R

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A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene by Brunner, H G, van Beersum, S E, Warman, M L, Olsen, B R, Ropers, H H, Mariman, E C

“…Stickler syndrome (hereditary arthro-ophthalmopathy) is caused by mutations in the structural gene for collagen type II (COL2A1) in approximately 50% of cases…”
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Clinical and molecular studies in a large Dutch family with Noonan syndrome by van der Burgt, I, Berends, E, Lommen, E, van Beersum, S, Hamel, B, Mariman, E

“…We describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a…”
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Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes by Hol, Frans A., Schepens, Marga T., van Beersum, Sylvia E.C., Redolfi, Elena, Affer, Maurizio, Vezzoni, Paolo, Hamel, Ben C.J., Karnes, Pamela S., Mariman, Edwin C.M., Zucchi, Ileana

“…We investigated a family with a duplication, dup(X)q26–q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers…”
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Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome : clinical aspects by HENNEKAM, R. C. M, TILANUS, M, HAMEL, B. C. J, VOSHART-VAN HEEREN, H, MARIMAN, E. C. M, VAN BEERSUM, S. E. C, VAN DEN BOOGAARD, M.-J. H, BREUNING, M. H

“…In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization…”
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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation by van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.

“…p63 mutations have been associated with EEC syndrome ( ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand–split…”
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Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease by Gabreels-Festen, A A. W.M, Hoogendijk, J E, Meijerink, P H.S, Gabreels, F J.M, Bolhuis, P A, van Beersum, S, Kulkens, T, Nelis, E, Jennekens, F G.I, de Visser, M, van Engelen, B G.M, Van Broeckhoven, C, Mariman, E C.M

“…In seven unrelated patients with a demyelinating motor and sensory neuropathy, we found mutations in exons 2 and 3 of the P sub 0 gene.Morphologic examination…”
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