Loeys B - Search Results

1

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G, Speleman F, Menten B. Buysse K, et al. Among authors: loeys b. Eur J Med Genet. 2009 Nov-Dec;52(6):398-403. doi: 10.1016/j.ejmg.2009.09.002. Epub 2009 Sep 16. Eur J Med Genet. 2009. PMID: 19765681

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

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.

Loeys BL, Lemmerling MM, Van Mol CE, Leroy JG. Loeys BL, et al. Am J Med Genet. 1999 May 7;84(1):61-7. Am J Med Genet. 1999. PMID: 10213048

4

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Loeys BL, Van Coster RN, Defreyne LR, Leroy JG. Loeys BL, et al. Eur J Pediatr. 1999 Aug;158(8):650-2. doi: 10.1007/s004310051169. Eur J Pediatr. 1999. PMID: 10445344

5

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

6

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

7

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

8

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

9

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

10

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Parvari R, et al. Among authors: loeys b. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21. Nat Genet. 2002. PMID: 12389028

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