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Mitochondrial deafness.
Kokotas H, Petersen MB, Willems PJ. Kokotas H, et al. Among authors: willems pj. Clin Genet. 2007 May;71(5):379-91. doi: 10.1111/j.1399-0004.2007.00800.x. Clin Genet. 2007. PMID: 17489842 Review.
Three novel mutations in greek sotos patients with rare clinical manifestations.
Leventopoulos G, Kitsiou-Tzeli S, Psoni S, Mavrou A, Kanavakis E, Willems P, Fryssira H. Leventopoulos G, et al. Among authors: willems p. Horm Res. 2009 Jan;71(1):45-51. doi: 10.1159/000173741. Epub 2008 Nov 27. Horm Res. 2009. PMID: 19039236
Intrafamilial variability in fucosidosis.
Willems PJ, Garcia CA, De Smedt MC, Martin-Jimenez R, Darby JK, Duenas DA, Granado-Villar D, O'Brien JS. Willems PJ, et al. Clin Genet. 1988 Jul;34(1):7-14. doi: 10.1111/j.1399-0004.1988.tb02608.x. Clin Genet. 1988. PMID: 3409541
Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.
Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B. Maász A, et al. Among authors: willems pj. Curr Med Chem. 2008;15(13):1257-62. doi: 10.2174/092986708784534910. Curr Med Chem. 2008. PMID: 18537605 Review.
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. Among authors: willems pj. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Coucke PJ, et al. Among authors: willems pj. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Among authors: willems pj. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.
Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Among authors: willems pj. Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594. Am J Med Genet A. 2009. PMID: 19161153
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Wessels MW, Willems PJ. Wessels MW, et al. Among authors: willems pj. Clin Genet. 2008 Jul;74(1):16-9. doi: 10.1111/j.1399-0004.2008.00985.x. Epub 2008 Apr 8. Clin Genet. 2008. PMID: 18400036
Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472.
Ensink RJ, Verhoeven K, Marres HA, Huygen PL, Padberg GW, ter Laak H, van Camp G, Willems PJ, Cremers CW. Ensink RJ, et al. Among authors: willems pj. Arch Otolaryngol Head Neck Surg. 1998 Aug;124(8):886-91. doi: 10.1001/archotol.124.8.886. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9708714
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