Loeys BL - Search Results

1

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL. Renard M, et al. Among authors: loeys bl. Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14. Eur J Hum Genet. 2010. PMID: 20389311 Free PMC article.

2

Bruck syndrome: neonatal presentation and natural course in three patients.

Leroy JG, Nuytinck L, De Paepe A, De Rammelaere M, Gillerot Y, Verloes A, Loeys B, De Groote W. Leroy JG, et al. Pediatr Radiol. 1998 Oct;28(10):781-9. doi: 10.1007/s002470050465. Pediatr Radiol. 1998. PMID: 9799301

3

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

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

4

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

5

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

6

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.

Loeys B, Hoebeke P, Raes A, Messiaen L, De Paepe A, Vande Walle J. Loeys B, et al. BJU Int. 2002 Jul;90(1):76-83. doi: 10.1046/j.1464-410x.2002.02775.x. BJU Int. 2002. PMID: 12081775

7

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

8

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.

9

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. Eur J Dermatol. 2003 Nov-Dec;13(6):529-33. Eur J Dermatol. 2003. PMID: 14721770

10

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

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