Loeys B - Search Results

1

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A. Symoens S, et al. Among authors: loeys b. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. Hum Mutat. 2009. PMID: 18972565

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. Among authors: loeys b. 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. Among authors: loeys b. 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

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Collod-Béroud G, et al. Among authors: loeys b. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.

10

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

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