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Page 1
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: marcelis c. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572 Free PMC article.
Cytoplasmic localization of PML particles in laminopathies.
Houben F, De Vos WH, Krapels IP, Coorens M, Kierkels GJ, Kamps MA, Verstraeten VL, Marcelis CL, van den Wijngaard A, Ramaekers FC, Broers JL. Houben F, et al. Among authors: marcelis cl. Histochem Cell Biol. 2013 Jan;139(1):119-34. doi: 10.1007/s00418-012-1005-5. Epub 2012 Aug 25. Histochem Cell Biol. 2013. PMID: 22918509
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: marcelis cl. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.
[Hypertrophic cardiomyopathy: from diagnosis to prevention].
Hassink RJ, Grosfeld MJ, Marcelis C, Delhaas T, Doevendans PA. Hassink RJ, et al. Among authors: marcelis c. Ned Tijdschr Geneeskd. 2003 Jun 14;147(24):1181-4. Ned Tijdschr Geneeskd. 2003. PMID: 12845840 Dutch.
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: marcelis c. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688
The Currarino triad: neurosurgical considerations.
Emans PJ, van Aalst J, van Heurn EL, Marcelis C, Kootstra G, Beets-Tan RG, Vles JS, Beuls EA. Emans PJ, et al. Among authors: marcelis c. Neurosurgery. 2006 May;58(5):924-9; discussion 924-9. doi: 10.1227/01.NEU.0000209945.87233.6A. Neurosurgery. 2006. PMID: 16639328
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA. Wijers CH, et al. Among authors: marcelis cl. Pediatr Surg Int. 2010 Nov;26(11):1093-9. doi: 10.1007/s00383-010-2688-0. Pediatr Surg Int. 2010. PMID: 20730541 Free PMC article.
145 results