5q35 duplication syndrome

Autor: Neeltje Margreth van der Lugt, Marjolein J. A. Weerts, Danielle C. M. Veenma, Carsten R. Lincke, Saskia J. Gischler, Marielle Alders, Yvette van Ierland

Publikováno v: American journal of medical genetics. Part A. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 191(3), 835-841. Wiley-Liss Inc.

The key features of patients with a microduplication 5q35.2q35.3 (including the NSD1 gene) are short stature, microcephaly, mild developmental delay, behavioral problems, digital anomalies and congenital anomalies of internal organs. This core phenot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897d86b2c6d13512cbdca14485b6c90b
https://doi.org/10.1002/ajmg.a.63068

De behandeling van intra-abdominale appendiculaire abcessen bij kinderen

Autor: Ben Tomlow, Carsten R. Lincke, Han Boxma

Publikováno v: Tijdschrift voor Kindergeneeskunde. 79:9-15

De behandeling van een aan appendicitisgerelateerd intra-abdominaal abces bij kinderen bestaat in principe uit chirurgische of radiologische drainage. Dit is echter vaak technisch moeilijk uitvoerbaar en geassocieerd met morbiditeit. Op grond van lit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8549eb8e7b098d23383c7030db3fee4e
https://doi.org/10.1007/s12456-011-0002-2

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study

Autor: Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewout R. Brunt, Els A. J. Peeters, Encarna B. Gómez Garcia, Marjo S. van der Knaap, Carsten R. Lincke, Laura A. E. M. Laan, Marina A. J. Tijssen, Monique A. van Rijn, Danielle Majoor-Krakauer, Marjan Visser, Laura J. van 't Veer, Wim J. Kleijer, Bart P. C. van de Warrenburg, Adilia Warris, Imelda J. M. de Groot, Ronald de Groot, Annegien Broeks, Frank Preijers, Berry H. P. H. Kremer, Corry M. R. Weemaes, Malcolm A. M. R. Taylor, Marcel van Deuren, Michèl A. A. P. Willemsen

Publikováno v: Human mutation, 33(3), 561-571. Wiley-Liss Inc.
Human Mutation, 33(3), 561-571. Wiley
Human Mutation, 33, 3, pp. 561-71
Verhagen, M M M, Last, J I, Hogervorst, F B L, Smeets, D F C M, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, C E, Wulffraat, NM, Cobben, J M, Hiel, J, Brunt, E R, Peeters, E A J, Garcia, E B G, van der Knaap, M S, Lincke, C R, Laan, L A E M, Tijssen, M A J, van Rijn, M A, Majoor-Krakauer, D, Visser, M, van 't Veer, L J, Kleijer, W J, van de Warrenburg, B P C, Warris, A, de Groot, I J M, de Groot, R, Broeks, A, Preijers, F, Kremer, B H P H, Weemaes, C M R, Taylor, M A M R, van Deuren, M & Willemsen, M A A P 2012, ' Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ', Human Mutation, vol. 33, no. 3, pp. 561-571 . https://doi.org/10.1002/humu.22016
Human Mutation, 33, 561-71
Human Mutation, 33(3), 561-571. Wiley-Liss Inc.

Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abeba07fac21609ce343b6b0ed845f1e
https://pubmed.ncbi.nlm.nih.gov/22213089

Recombinant human deoxyribonuclease in infants with respiratory syncytial virus bronchiolitis

Autor: Anthon R. Hulsmann, Anja Vaessen-Verberne, Yen Ni Yap, Paul L. P. Brand, Peter J. F. M. Merkus, Tom Hendriks, Arwen J. Sprij, Matthijs de Hoog, Govert Brinkhorst, Carsten R. Lincke, Ruben Boogaard, Sander W.W. Feith, Leoniek van Veen, Annelies E. Brandsma, Wim C. J. Hop, Barbara J. Sibbles

Publikováno v: Chest, 131, 788-795. American College of Chest Physicians
Chest, 131, 788-95
Chest, 131, 3, pp. 788-95

Contains fulltext : 52493.pdf (Publisher’s version ) (Closed access) BACKGROUND: Treatment of hospitalized infants with respiratory syncytial virus (RSV) bronchiolitis is mainly supportive. Bronchodilators and systemic steroids are often used but d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f5c91782479d42303ec4ebb20f47f87
https://pure.eur.nl/en/publications/25cb4ae7-deea-46b3-80ac-541fae60550f

Growth of chromosome ends in multiplying trypanosomes

Autor: André Bernards, Paul A.M. Michels, Piet Borst, Carsten R. Lincke

Publikováno v: Nature. 303:592-597

Some of the genes for the variant surface glycoproteins of trypanosomes are located close to a discontinuity in the DNA, presumably a chromosome end. We show here that DNA fragments containing these telomeres increase in length in multiplying trypano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfebaba978a3c5c2547d8594f39ca140
https://doi.org/10.1038/303592a0