Comeglio P - Search Results

1

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G. Aragon-Martin JA, et al. Among authors: comeglio p. Hum Mutat. 2010 Aug;31(8):E1622-31. doi: 10.1002/humu.21305. Hum Mutat. 2010. PMID: 20564469

2

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. Comeglio P, et al. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9505. Hum Mutat. 2007. PMID: 17657824

3

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Child AH. Comeglio P, et al. Hum Mutat. 2001 Sep;18(3):251. doi: 10.1002/humu.1181. Hum Mutat. 2001. Corrected and republished in: Hum Mutat. 2001 Dec;18(6):546-7. doi: 10.1002/humu.1235 PMID: 11524736 Corrected and republished.

4

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Child AH. Comeglio P, et al. Hum Mutat. 2001 Dec;18(6):546-7. doi: 10.1002/humu.1235. Hum Mutat. 2001. PMID: 11748851

5

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Comeglio P, et al. Br J Ophthalmol. 2002 Dec;86(12):1359-62. doi: 10.1136/bjo.86.12.1359. Br J Ophthalmol. 2002. PMID: 12446365 Free PMC article.

6

The revised ghent nosology; reclassifying isolated ectopia lentis.

Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G. Chandra A, et al. Among authors: comeglio p. Clin Genet. 2015 Mar;87(3):284-7. doi: 10.1111/cge.12358. Epub 2014 Mar 6. Clin Genet. 2015. PMID: 24635535 Free article.

7

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: comeglio p. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.

8

Letter to the editor.

Arno G, Comeglio P, Child AH. Arno G, et al. Among authors: comeglio p. Int J Angiol. 2010 Summer;19(2):e94. doi: 10.1055/s-0031-1278369. Int J Angiol. 2010. PMID: 22477598 Free PMC article. No abstract available.

9

Gene symbol: FBN1. Disease: Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH. Comeglio P, et al. Hum Genet. 2003 Jan;112(1):104. doi: 10.1007/s00439-002-0867-3. Hum Genet. 2003. PMID: 12575662 No abstract available.

10

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. Behan WM, et al. Among authors: comeglio p. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. doi: 10.1136/jnnp.74.5.633. J Neurol Neurosurg Psychiatry. 2003. PMID: 12700307 Free PMC article.

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