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Published in The journal of clinical endocrinology and metabolism (01.04.2016)
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Published in Netherlands journal of medicine (01.06.2016)
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The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects
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Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene
van Duyvenvoorde, H. A, van Setten, P. A, Walenkamp, M. J. E, van Doorn, J, Koenig, J, Gauguin, L, Oostdijk, W, Ruivenkamp, C. A. L, Losekoot, M, Wade, J. D, De Meyts, P, Karperien, M, Noordam, C, Wit, J. M
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Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
Losekoot, M, Ruivenkamp, C A L, Tholens, A P, Grimbergen, J E M A, Vijfhuizen, L, Vermeer, S, Dijkman, H B, Cornelissen, E A M, Bongers, E M H F, Peters, D J M
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit
van Duyvenvoorde, H A, Kempers, M J E, Twickler, Th B, van Doorn, J, Gerver, W J, Noordam, C, Losekoot, M, Karperien, M, Wit, J M, Hermus, A R M M
Published in European journal of endocrinology (01.08.2008)
Published in European journal of endocrinology (01.08.2008)
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Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity
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Published in Hormone research in paediatrics (01.01.2012)
Published in Hormone research in paediatrics (01.01.2012)
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A mosaic de novo duplication of 17q21–25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation
Mul, D, Wu, S, de Paus, R A, Oostdijk, W, Lankester, A C, Duyvenvoorde, H A van, Ruivenkamp, C A L, Losekoot, M, Tol, M J D van, De Luca, F, van de Vosse, E, Wit, J M
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Published in European journal of endocrinology (01.04.2012)
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Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study
Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J
Published in Journal of medical genetics (01.03.2007)
Published in Journal of medical genetics (01.03.2007)
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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L
Published in European journal of medical genetics (01.06.2012)
Published in European journal of medical genetics (01.06.2012)
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Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions
Walenkamp, M.J.E., Klammt, J., Feigerlova, E., Losekoot, M., van Duyvenvoorde, H.A., Hwa, V., Pfäffle, R., Wit, J.M.
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Published in Hormone research in paediatrics (01.01.2013)
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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008
van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben, A, de Die-Smulders, CEM, Bijlsma, EK
Published in Clinical genetics (01.01.2014)
Published in Clinical genetics (01.01.2014)
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Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II
Kempers, M.J.E., van der Crabben, S.N., de Vroede, M., Alfen-van der Velden, J., Netea-Maier, R.T., Duim, R.A.J., Otten, B.J., Losekoot, M., Wit, J.M.
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
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The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein
van Duyvenvoorde, H.A, van Doorn, J, Koenig, J, Gauguin, L, Oostdijk, W, Wade, J.D, Karperien, M, Ruivenkamp, C.A.L, Losekoot, M, van Setten, P.A, Walenkamp, M.J.E, Noordam, C, De Meyts, P, Wit, J.M
Published in Growth hormone & IGF research (01.02.2011)
Published in Growth hormone & IGF research (01.02.2011)
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Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency
Kälviäinen, R., Eriksson, K., Losekoot, M., Sorri, I., Harvima, I., Santavuori, P., Järvelä, I., Autti, T., Vanninen, R., Salmenperä, T., Van Diggelen, O. P.
Published in European journal of neurology (01.04.2007)
Published in European journal of neurology (01.04.2007)
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Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas
van Houtum, W H, Corssmit, E P M, Douwes Dekker, P B, Jansen, J C, van der Mey, A G L, Bröcker-Vriends, A H J T, Taschner, P E M, Losekoot, M, Frölich, M, Stokkel, M P M, Cornelisse, C J, Romijn, J A
Published in European journal of endocrinology (01.01.2005)
Published in European journal of endocrinology (01.01.2005)
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Paradox of a better test for Huntington's disease
Maat-Kievit, A, Vlis, M Vegter-van der, Zoeteweij, M, Losekoot, M, van Haeringen, A, Roos, R
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2000)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2000)
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