Search Results - "Van Den Ouweland, A M"

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations by Leenen, CHM, Geurts-Giele, WRR, Dubbink, HJ, Reddingius, R, van den Ouweland, AM, Tops, CMJ, van de Klift, HM, Kuipers, EJ, van Leerdam, ME, Dinjens, WNM, Wagner, A

“…Leenen CHM, Geurts‐Giele WRR, Dubbink HJ, Reddingius R, van den Ouweland AM, Tops CMJ, van de Klift HM, Kuipers EJ, van Leerdam ME, Dinjens WNM, Wagner A…”
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A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature by Aydemirli, M. D., van der Tuin, K., Hes, F. J., van den Ouweland, A. M. W., van Wezel, T., Kapiteijn, E., Morreau, H.

“…We report a case of a 22-year-old female patient who was diagnosed with a cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC). While at early…”
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TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort by Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collée, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M., Ausems, M. G.

“…Early-onset breast cancer may be due to Li–Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be…”
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Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex by Boer, K, Jansen, F, Nellist, M, Redeker, S, van den Ouweland, A.M.W, Spliet, W.G.M, van Nieuwenhuizen, O, Troost, D, Crino, P.B, Aronica, E

“…Summary Cortical tubers and subependymal giant cell tumors (SGCT) are two major cerebral lesions associated with tuberous sclerosis complex (TSC). In the…”
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Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex by Overwater, I. E., Verhaar, B. J. H., Lingsma, H. F., Bindels-de Heus, G. C. B., van den Ouweland, A. M. W., Nellist, M., ten Hoopen, L. W., Elgersma, Y., Moll, H. A., de Wit, M. C. Y.

“…Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and…”
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Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection by Van Opstal, D, Los, F J, Ramlakhan, S, Van Hemel, J O, Van Den Ouweland, A M, Brandenburg, H, Pieters, M H, Verhoeff, A, Vermeer, M C, Dhont, M, In't Veld, P A

“…Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic sperm injection (ICSI) resulted in the detection of nine (12.7%) chromosome…”
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Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers by Goverde, A., Spaander, M. C. W., Nieboer, D., van den Ouweland, A. M. W., Dinjens, W. N. M., Dubbink, H. J., Tops, C. J., ten Broeke, S. W., Bruno, M. J., Hofstra, R. M. W., Steyerberg, E. W., Wagner, A.

“…Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a…”
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Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood by VERHOEF, S, VAN DIEMEN-STEENVOORDE, R, LIPS, K, VAN DEN OUWELAND, A. M. W, AKKERSDIJK, W. L, BAX, N. M. A, ARIYUREK, Y, HERMANS, C. J, VAN NIEUWENHUIZEN, O, NIKKELS, P. G. J, LINDHOUT, D, HALLEY, D. J. J

“…A 12-year-old boy with tuberous sclerosis complex (TSC) presented with a large retroperitoneal tumour. Exploratory surgery revealed an infiltrative tumour…”
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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification by Hes, FJ, van der Luijt, RB, Janssen, ALW, Zewald, RA, de Jong, GJ, Lenders, JW, Links, TP, Luyten, GPM, Sijmons, RH, Eussen, HJ, Halley, DJJ, Lips, CJM, Pearson, PL, van den Ouweland, AMW, Majoor-Krakauer, DF

“…The current clinical diagnosis of Von Hippel‐Lindau (VHL) disease demands at least one specific a sporadic VHL manifestation in a patient with familial VHL…”
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Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11 by Wu, Y Q, Heutink, P, de Vries, B B, Sandkuijl, L A, van den Ouweland, A M, Niermeijer, M F, Galjaard, H, Reyniers, E, Willems, P J, Halley, D J

“…Hereditary multiple exostoses (EXT) is an autosomal dominant disorder of enchondral bone formation characterized by multiple bony outgrowths (exostoses), with…”
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A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands by van Minkelen, R., van Bever, Y., Kromosoeto, J.N.R., Withagen-Hermans, C.J., Nieuwlaat, A., Halley, D.J.J., van den Ouweland, A.M.W.

“…NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro‐cardio‐facio‐cutaneous syndrome (NCFC). Because of the clinical overlap…”
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Mental status of females with an FMR1 gene full mutation by DE VRIES, B. B. A, WIEGERS, A. M, NIERMEIJER, M. F, SMITS, A. P. T, MOHKAMSING, S, DUIVENVOORDEN, H. J, FRYNS, J.-P, CURFS, L. M. G, HALLEY, D. J. J, OOSTRA, B. A, VAN DEN OUWELAND, A. M. W

“…The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike…”
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 by van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J

“…Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004…”
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The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects by Donze, S H, Meijer, C R, Kant, S G, Zandwijken, G R J, van der Hout, A H, van Spaendonk, R M L, van den Ouweland, A M W, Wit, J M, Losekoot, M, Oostdijk, W

“…ObjectiveShort stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered…”
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A prospective 10 year follow up study of patients with neurofibromatosis type 1 by Cnossen, M H, de Goede-Bolder, A, van den Broek, K M, Waasdorp, C M E, Oranje, A P, Stroink, H, Simonsz, H J, van den Ouweland, A M W, Halley, D J J, Niermeijer, M F

“…OBJECTIVE To establish the prevalence and incidence of symptoms and complications in children with neurofibromatosis type 1 (NF1) and to assess possible risk…”
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An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito by Eussen, Bert H J, Bartalini, Gabriella, Bakker, Lida, Balestri, Paolo, Di Lucca, Carmela, Van Hemel, Jan O, Dauwerse, Hans, van den Ouweland, Ans M W, Ris-Stalpers, Carrie, Verhoef, Senno, Halley, Dicky J J, Fois, Alberto

“…We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large…”
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Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2 by HULSEBOS, T. J. M, OSKAM, N. T, BIJIEVELD, E. H, WESTERVELD, A, HERMSEN, M. A, VAN DEN OUWELAND, A. M. W, HAMEL, B. C, TIJSSEN, C. C

“…Ependymomas are glial tumours of the brain and spinal cord. The most frequent genetic change in sporadic ependymoma is monosomy 22, suggesting the presence of…”
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Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes by Lammens, C. R. M., Bleiker, E. M. A., Verhoef, S., Ausems, M. G. E. M., Majoor-Krakauer, D., Sijmons, R. H., Hes, F. J., Gómez-García, E. B., Van Os, T. A. M., Spruijt, L., van der Luijt, R. B., van den Ouweland, A. M. W., Ruijs, M. W. G., Gundy, C., Nagtegaal, T., Aaronson, N. K.

“…Objective: Li Fraumeni syndrome (LFS) and Von Hippel‐Lindau disease (VHL) are two rare hereditary tumor syndromes, characterized by a high risk of developing…”
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Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress by Lammens, CRM, Bleiker, EMA, Verhoef, S, Hes, FJ, Ausems, MGEM, Majoor-Krakauer, D, Sijmons, RH, Van Der Luijt, RB, Van Den Ouweland, AMW, Van Os, Tam, Hoogerbrugge, N, Gómez García, EB, Dommering, CJ, Gundy, CM, Aaronson, NK

“…Lammens CRM, Bleiker EMA, Verhoef S, Hes FJ, Ausems MGEM, Majoor‐Krakauer D, Sijmons RH, Luijt van der RB, Ouweland van den AMW, Van Os Tam, Hoogerbrugge N,…”
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Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy by Seynaeve, C, Verhoog, L.C, van de Bosch, L.M.C, van Geel, A.N, Menke-Pluymers, M, Meijers-Heijboer, E.J, van den Ouweland, A.M.W, Wagner, A, Creutzberg, C.L, Niermeijer, M.F, Klijn, J.G.M, Brekelmans, C.T.M

“…The overall rate of an ipsilateral breast tumour recurrence (IBTR) after breast-conserving therapy (BCT) ranges from 1% to 2% per year. Risk factors include…”
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