Search Results - "Van Essen, AJ"

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene by Colige, Alain, Nuytinck, Lieve, Hausser, Ingrid, van Essen, Anthonie J., Thiry, Marc, Herens, Christian, Adès, Lesley C., Malfait, Fransiska, Paepe, Anne De, Franck, Peter, Wolff, Gerhard, Oosterwijk, Jan C., Sillevis Smitt, J.H., Lapière, Charles M., Nusgens, Betty V.

“…Ehlers–Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by…”
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The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC) by Malfait, Fransiska, De Coster, Peter, Hausser, Ingrid, van Essen, Anthonie J., Franck, Peter, Colige, Alain, Nusgens, Betty, Martens, Luc, De Paepe, Anne

“…Ehlers–Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue…”
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Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study by Hoogerwaard, EM, Bakker, E, Ippel, PF, Oosterwijk, JC, Majoor-Krakauer, DF, Leschot, NJ, Van Essen, AJ, Brunner, HG, van der Wouw, PA, Wilde, AAM, de Visser, M

“…Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on…”
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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals by Bijlsma, E.K, Gijsbers, A.C.J, Schuurs-Hoeijmakers, J.H.M, van Haeringen, A, Fransen van de Putte, D.E, Anderlid, B.-M, Lundin, J, Lapunzina, P, Pérez Jurado, L.A, Delle Chiaie, B, Loeys, B, Menten, B, Oostra, A, Verhelst, H, Amor, D.J, Bruno, D.L, van Essen, A.J, Hordijk, R, Sikkema-Raddatz, B, Verbruggen, K.T, Jongmans, M.C.J, Pfundt, R, Reeser, H.M, Breuning, M.H, Ruivenkamp, C.A.L

“…Abstract Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA)…”
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Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy by SCHADE VAN WESTRUM, S. M, HOOGERWAARD, E. M, WILDE, A. A. M, DE HAAN, R. J, DE VISSER, M, VAN DER KOOI, A. J, DEKKER, L, STANDAAR, T. S, BAKKER, E, IPPEL, P. F, OOSTERWIJK, J. C, MAJOOR-KRAKAUER, D. F, VAN ESSEN, A. J, LESCHOT, N. J

“…Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)…”
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Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis by Rump, P., Zeegers, M.P.A., van Essen, A.J.

“…Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macroglossia, abdominal wall defects, ear anomalies, and an increased risk for…”
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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome by Celli, Jacopo, Duijf, Pascal, Hamel, Ben C.J, Bamshad, Michael, Kramer, Bridget, Smits, Arie P.T, Newbury-Ecob, Ruth, Hennekam, Raoul C.M, Van Buggenhout, Griet, van Haeringen, Arie, Woods, C.Geoffrey, van Essen, Anthonie J, de Waal, Rob, Vriend, Gert, Haber, Daniel A, Yang, Annie, McKeon, Frank, Brunner, Han G, van Bokhoven, Hans

“…EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in…”
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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations by Nelen, M R, Kremer, H, Konings, I B, Schoute, F, van Essen, A J, Koch, R, Woods, C G, Fryns, J P, Hamel, B, Hoefsloot, L H, Peeters, E A, Padberg, G W

“…Cowden disease (CD) is characterised by multiple hamartomas in a variety of tissues. The pathological hallmark is the presence of a number of trichilemmomas…”
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High Rate of Mosaicism in Tuberous Sclerosis Complex by Verhoef, Senno, Bakker, Lida, Tempelaars, Anita M.P., Hesseling-Janssen, Arjenne L.W., Mazurczak, Tadeusz, Jozwiak, Sergiusz, Fois, Alberto, Bartalini, Gabriella, Zonnenberg, Bernard A., van Essen, Anthonie J., Lindhout, Dick, Halley, Dicky J.J., van den Ouweland, Ans M.W.

“…Six families with mosaicism are identified in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1…”
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Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature by Verheij, Johanna B.G.M., Sival, Deborah A., van der Hoeven, Johannes H., Vos, Yvonne J., Meiners, Linda C., Brouwer, Oebele F., van Essen, Anthonie J.

“…Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung…”
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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy by Hoogerwaard, E.M., van der Wouw, P.A., Wilde, A.A.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., van Essen, A.J., Leschot, N.J., de Visser, M.

“…A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives:…”
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Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X) by Niessen, Renée C., Jonkman, Marcel F., Muis, Nies, Hordijk, Roel, van Essen, Anthonie J.

“…We report on a 6‐year‐old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation,…”
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Neurofibromatosis type I and pregnancy: a fatal attraction?: Development of malignant schwannoma during pregnancy in a patient with neurofibromatosis type I by Posma, E, Aalbers, R, Kurniawan, Y.S, van Essen, A.J, Peeters, P.M.J.G, van Loon, A.J

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Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders by Jonkman, M. F., Nuijts, M. Castellanos, Van Essen, A. J.

“…Summary This review assesses molecular aspects of the rescue of disease‐causing mutations in genodermatoses by means of naturally occurring secondary genetic…”
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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele by Rump, P., Letteboer, T.G.W., Gille, J.J.P., Torringa, M.J.L., Baerts, W., van Gestel, J.P.J., Verheij, J.B.G.M., van Essen, A.J.

“…We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth…”
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Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile by Kroes, HY, Pals, G, Van Essen, AJ

“…A mother and son with Ehlers–Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother,…”
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Malpuech syndrome: Three patients and a review by Kerstjens‐Frederikse, W.S., Brunner, H.G., van Dael, C.M.L., van Essen, A.J.

“…We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families…”
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Phenotypic variability of Cat-Eye syndrome by Berends, M J, Tan-Sindhunata, G, Leegte, B, van Essen, A J

“…Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best…”
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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect by RUMP, P, LEMMINK, H. H, VERSCHUUREN-BEMELMANS, C. C, GROOTSCHOLTEN, P. M, FOCK, J. M, HAYFLICK, S. J, WESTAWAY, S. K, VOS, Y. J, VAN ESSEN, A. J

“…Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as…”
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Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome by Veenstra-Knol, Hermine E., Kleibeuker, Arianne, Timmer, Albertus, ten Kate, Leo P., van Essen, Anthonie J.

“…Bartsocas–Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal…”
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