Loeys B - Search Results

1

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: loeys b. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769

2

Occipital Horn syndrome in a 2-year-old boy.

De Paepe A, Loeys B, Devriendt K, Fryns JP. De Paepe A, et al. Among authors: loeys b. Clin Dysmorphol. 1999 Jul;8(3):179-83. Clin Dysmorphol. 1999. PMID: 10457850

3

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Loeys B, et al. Arch Intern Med. 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447. Arch Intern Med. 2001. PMID: 11700157

4

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Loeys B, Nuytinck L, Van Acker P, Walraedt S, Bonduelle M, Sermon K, Hamel B, Sanchez A, Messiaen L, De Paepe A. Loeys B, et al. Prenat Diagn. 2002 Jan;22(1):22-8. Prenat Diagn. 2002. PMID: 11810645

5

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Loeys B, et al. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. doi: 10.1093/hmg/11.18.2113. Hum Mol Genet. 2002. PMID: 12189163

6

Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.

Loeys BL, Matthys DM, de Paepe AM. Loeys BL, et al. Acta Clin Belg. 2003 Jan-Feb;58(1):3-11. doi: 10.1179/acb.2003.58.1.001. Acta Clin Belg. 2003. PMID: 12723256 Review.

7

Cutis laxa of the autosomal recessive type in a consanguineous family.

de Schepper S, Loeys B, de Paepe A, Lambert J, Naeyaert JM. de Schepper S, et al. Among authors: loeys b. Eur J Dermatol. 2003 Nov-Dec;13(6):529-33. Eur J Dermatol. 2003. PMID: 14721770

8

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. Loeys B, et al. Hum Mutat. 2004 Aug;24(2):140-6. doi: 10.1002/humu.20070. Hum Mutat. 2004. PMID: 15241795

9

DUP25 remains unconfirmed.

Vermeulen SJ, Menten B, De Bie S, Coucke P, Malfait F, De Backer J, Speleman F, De Paepe A, Loeys B. Vermeulen SJ, et al. Among authors: loeys b. Am J Med Genet A. 2004 Dec 15;131(3):320-1. doi: 10.1002/ajmg.a.30343. Am J Med Genet A. 2004. PMID: 15386472 No abstract available.

10

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. Malfait F, et al. Among authors: loeys b. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

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