Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay
Koeks, Z., Janson, A. A., Beekman, C., Signorelli, M., van Duyvenvoorde, H. A., van den Bergen, J. C., Hooijmans, M. T., Alleman, I., Hegeman, I. M., Verschuuren, J. J. G. M., v. Deutekom, J. C., Spitali, P., Datson, N. A., Niks, E. H.
Published in Scientific reports (15.03.2021)
Published in Scientific reports (15.03.2021)
Get full text
Journal Article
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
Published in The journal of clinical endocrinology and metabolism (01.11.2010)
Published in The journal of clinical endocrinology and metabolism (01.11.2010)
Get full text
Journal Article
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, de Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O, de Vries, B B A
Published in Journal of medical genetics (01.06.2008)
Published in Journal of medical genetics (01.06.2008)
Get full text
Journal Article
A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor
Walenkamp, M. J. E, van der Kamp, H. J, Pereira, A. M, Kant, S. G, van Duyvenvoorde, H. A, Kruithof, M. F, Breuning, M. H, Romijn, J. A, Karperien, M, Wit, J. M
Published in The journal of clinical endocrinology and metabolism (01.08.2006)
Published in The journal of clinical endocrinology and metabolism (01.08.2006)
Get full text
Journal Article
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)
Get full text
Journal Article
Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation
Walenkamp, M. J. E, Karperien, M, Pereira, A. M, Hilhorst-Hofstee, Y, van Doorn, J, Chen, J. W, Mohan, S, Denley, A, Forbes, B, van Duyvenvoorde, H. A, van Thiel, S. W, Sluimers, C. A, Bax, J. J, de Laat, J. A. P. M, Breuning, M. B, Romijn, J. A, Wit, J. M
Published in The journal of clinical endocrinology and metabolism (01.05.2005)
Published in The journal of clinical endocrinology and metabolism (01.05.2005)
Get full text
Journal Article
Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system
DE BOER, L, VAN DUYVENVOORDE, H. A, WILLEMSTEIN-VAN HOVE, E. C, HOOGERBRUGGE, C. M, VAN DOORN, J, MAASSEN, J. A, KARPERIEN, M, WIT, J. M
Published in European journal of endocrinology (01.09.2004)
Published in European journal of endocrinology (01.09.2004)
Get full text
Journal Article
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.
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
Get full text
Journal Article
First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features
Dekker, M.C.J., Tieleman, A.A., Igogo, O.J., van Duyvenvoorde, H.A., Howlett, W.P., Hamel, B.C.
Published in Neuromuscular disorders : NMD (01.04.2019)
Published in Neuromuscular disorders : NMD (01.04.2019)
Get full text
Journal Article
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data
van de Velde, N M, Krom, Y D, Bongers, J, Hoek, R J A, Ikelaar, N A, van der Holst, M, Naarding, K J, van den Bergen, J C, Vroom, E, Horemans, A, Hendriksen, J G M, de Groot, I J M, Houwen-van Opstal, S L S, Verschuuren, J J G M, van Duyvenvoorde, H A, Snijder, R R, Niks, E H
Published in Journal of neuromuscular diseases (2024)
Published in Journal of neuromuscular diseases (2024)
Get more information
Journal Article
Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity
Wit, J.M., van Duyvenvoorde, H.A., Scheltinga, S.A., de Bruin, S., Hafkenscheid, L., Kant, S.G., Ruivenkamp, C.A.L., Gijsbers, A.C.J., van Doorn, J., Feigerlova, E., Noordam, C., Walenkamp, M.J., Claahsen-van de Grinten, H., Stouthart, P., Bonapart, I.E., Pereira, A.M., Gosen, J., Delemarre-van de Waal, H.A., Hwa, V., Breuning, M.H., Domené, H.M., Oostdijk, W., Losekoot, M.
Published in Hormone research in paediatrics (01.01.2012)
Published in Hormone research in paediatrics (01.01.2012)
Get full text
Journal Article
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
Published in European journal of endocrinology (01.04.2012)
Published in European journal of endocrinology (01.04.2012)
Get full text
Journal Article
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)
Get full text
Journal Article
Case report: Low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function
Rensing, K.L, van Duyvenvoorde, H.A, Cramer, M.J, Teske, A.J, Prokop, M, Stroes, E.S, Wit, J.M, Hermus, A.R.M.M, Twickler, Th.B
Published in Growth hormone & IGF research (01.08.2011)
Published in Growth hormone & IGF research (01.08.2011)
Get full text
Journal Article
Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height
Lin, Yingbo, van Duyvenvoorde, Hermine A, Liu, Hongyu, Yang, Chen, Warsito, Dudi, Yin, Chang, Kant, Sarina G, Haglund, Felix, Wit, Jan M, Larsson, Olle
Published in European journal of endocrinology (01.08.2018)
Published in European journal of endocrinology (01.08.2018)
Get full text
Journal Article
A mosaic de novo duplication of 17q21-2 5 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation
MULL, D, WU, S, VAN DE VOSSE, E, WIT, J. M, DE PAUS, R. A, OOSTDIJK, W, LANKESTER, A. C, VAN DUYVENVOORDE, H. A, RUIVENKAMP, C. A. L, LOSEKOOT, M, VAN TOL, M. J. D, DE LUCA, F
Published in European journal of endocrinology (2012)
Get full text
Published in European journal of endocrinology (2012)
Journal Article
Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor
Walenkamp, M J E, Robers, J M L, Wit, J M, Zandwijken, G R J, van Duyvenvoorde, H A, Oostdijk, W, Hokken-Koelega, A C S, Kant, S G, Losekoot, M
Published in The journal of clinical endocrinology and metabolism (08.03.2019)
Published in The journal of clinical endocrinology and metabolism (08.03.2019)
Get full text
Journal Article
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
Fofanova-Gambetti, Olga V, Hwa, Vivian, Wit, Jan M, Domene, Horacio M, Argente, Jesús, Bang, Peter, Högler, Wolfgang, Kirsch, Susan, Pihoker, Catherine, Chiu, Harvey K, Cohen, Laurie, Jacobsen, Christina, Jasper, Hector G, Haeusler, Gabriele, Campos-Barros, Angel, Gallego-Gómez, Elena, Gracia-Bouthelier, Ricardo, van Duyvenvoorde, Hermine A, Pozo, Jesús, Rosenfeld, Ron G
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
Get full text
Journal Article
Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
Domené, Horacio M., Hwa, Vivian, Argente, Jesús, Wit, Jan M., Camacho-Hübner, Cecilia, Jasper, Héctor G., Pozo, Jesús, van Duyvenvoorde, Hermine A., Yakar, Shoshana, Fofanova-Gambetti, Olga V., Rosenfeld, Ron G.
Published in Hormone research (01.01.2009)
Published in Hormone research (01.01.2009)
Get full text
Journal Article