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Results: 1 to 20 of 168

1.

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.

Clin Genet. 2014 Feb 7. doi: 10.1111/cge.12358. [Epub ahead of print]

PMID:
24635535
[PubMed - as supplied by publisher]
2.

A prospective, randomized, placebo-controlled, double-blind, multicenter study of the effects of irbesartan on aortic dilatation in Marfan syndrome (AIMS trial): study protocol.

Mullen MJ, Flather MD, Jin XY, Newman WG, Erdem G, Gaze D, Valencia O, Banya W, Foley CE, Child A.

Trials. 2013 Dec 1;14:408. doi: 10.1186/1745-6215-14-408.

PMID:
24289736
[PubMed - in process]
Free Article
3.

Bone-anchored hearing devices in children with unilateral conductive hearing loss: a patient-carer perspective.

Banga R, Doshi J, Child A, Pendleton E, Reid A, McDermott AL.

Ann Otol Rhinol Laryngol. 2013 Sep;122(9):582-7.

PMID:
24224402
[PubMed - indexed for MEDLINE]
4.

A variant in LDLR is associated with abdominal aortic aneurysm.

Bradley DT, Hughes AE, Badger SA, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Grétarsdóttir S, Burnand K, Child AH, Clough RE, Cockerill G, Hafez H, Scott DJ, Ariëns RA, Johnson A, Sohrabi S, Smith A, Thompson MM, van Bockxmeer FM, Waltham M, Matthíasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Wild JB, Edkins S, Gwilliam R, Hunt SE, Potter S, Lindholt JS, Golledge J, Norman PE, van Rij A, Powell JT, Eriksson P, Stefánsson K, Thompson JR, Humphries SE, Sayers RD, Deloukas P, Samani NJ, Bown MJ.

Circ Cardiovasc Genet. 2013 Oct;6(5):498-504. doi: 10.1161/CIRCGENETICS.113.000165. Epub 2013 Sep 17.

PMID:
24046328
[PubMed - indexed for MEDLINE]
5.

Prevalence of ectopia lentis and retinal detachment in Marfan syndrome.

Chandra A, Ekwalla V, Child A, Charteris D.

Acta Ophthalmol. 2014 Feb;92(1):e82-3. doi: 10.1111/aos.12175. Epub 2013 Jun 21. No abstract available.

PMID:
23786577
[PubMed - indexed for MEDLINE]
6.

Quality-of-life outcomes after bone-anchored hearing device surgery in children with single-sided sensorineural deafness.

Doshi J, Banga R, Child A, Lawrence R, Reid A, Proops D, McDermott AL.

Otol Neurotol. 2013 Jan;34(1):100-3. doi: 10.1097/MAO.0b013e318277a3dd.

PMID:
23187927
[PubMed - indexed for MEDLINE]
7.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L.

Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25.

PMID:
23103230
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A pharmacy led program to review anti-psychotic prescribing for people with dementia.

Child A, Clarke A, Fox C, Maidment I.

BMC Psychiatry. 2012 Sep 25;12:155. doi: 10.1186/1471-244X-12-155.

PMID:
23006528
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.

Sharafieh R, Child AH, Khaw PT, Fleck B, Sarfarazi M.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):14-20. doi: 10.3109/13816810.2012.716486. Epub 2012 Aug 27.

PMID:
22924778
[PubMed - indexed for MEDLINE]
10.

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.

Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):78-82. doi: 10.3109/13816810.2012.710707. Epub 2012 Aug 7.

PMID:
22871183
[PubMed - indexed for MEDLINE]
11.

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G.

Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874.

PMID:
22736615
[PubMed - indexed for MEDLINE]
Free Article
12.

Focus on molecules: ADAMTSL4.

Chandra A, D'Cruz L, Aragon-Martin JA, Charteris DG, Limb GA, Child AH, Arno G.

Exp Eye Res. 2012 Nov;104:95-6. doi: 10.1016/j.exer.2011.12.007. Epub 2011 Dec 13. No abstract available.

PMID:
22248912
[PubMed - indexed for MEDLINE]
13.

Alternative diagnoses with ectopia lentis.

Chandra A, Aragon Martin JA, Child AH, Arno G, Charteris DG.

Eye (Lond). 2012 Mar;26(3):481; author reply 481-2. doi: 10.1038/eye.2011.306. Epub 2011 Dec 2. No abstract available.

PMID:
22134590
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.

Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, Child AH, Clough RE, Cockerill G, Hafez H, Scott DJ, Futers S, Johnson A, Sohrabi S, Smith A, Thompson MM, van Bockxmeer FM, Waltham M, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Assimes TL, McPherson R; CARDIoGRAM Consortium; Global BPgen Consortium; DIAGRAM Consortium; VRCNZ Consortium, Folkersen L, Franco-Cereceda A, Palmen J, Smith AJ, Sylvius N, Wild JB, Refstrup M, Edkins S, Gwilliam R, Hunt SE, Potter S, Lindholt JS, Frikke-Schmidt R, Tybjærg-Hansen A, Hughes AE, Golledge J, Norman PE, van Rij A, Powell JT, Eriksson P, Stefansson K, Thompson JR, Humphries SE, Sayers RD, Deloukas P, Samani NJ.

Am J Hum Genet. 2011 Nov 11;89(5):619-27. doi: 10.1016/j.ajhg.2011.10.002. Epub 2011 Nov 4.

PMID:
22055160
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A gene expression-based predictor for myeloma patients at high risk of developing bone disease on bisphosphonate treatment.

Wu P, Walker BA, Brewer D, Gregory WM, Ashcroft J, Ross FM, Jackson GH, Child AJ, Davies FE, Morgan GJ.

Clin Cancer Res. 2011 Oct 1;17(19):6347-55. doi: 10.1158/1078-0432.CCR-11-0994. Epub 2011 Aug 19.

PMID:
21856767
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The new Ghent criteria for Marfan syndrome: what do they change?

Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G.

Clin Genet. 2012 May;81(5):433-42. doi: 10.1111/j.1399-0004.2011.01703.x. Epub 2011 Jun 2.

PMID:
21564093
[PubMed - indexed for MEDLINE]
17.

Impaired biventricular deformation in Marfan syndrome: a strain and strain rate study in adult unoperated patients.

Kiotsekoglou A, Saha S, Moggridge JC, Kapetanakis V, Govindan M, Alpendurada F, Mullen MJ, Nassiri DK, Camm J, Sutherland GR, Bijnens BH, Child A.

Echocardiography. 2011 Apr;28(4):416-30. doi: 10.1111/j.1540-8175.2010.01359.x.

PMID:
21504464
[PubMed - indexed for MEDLINE]
18.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S.

J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.

PMID:
21266381
[PubMed - indexed for MEDLINE]
19.

Assessment of aortic stiffness in marfan syndrome using two-dimensional and Doppler echocardiography.

Kiotsekoglou A, Moggridge JC, Saha SK, Kapetanakis V, Govindan M, Alpendurada F, Mullen MJ, Camm J, Sutherland GR, Bijnens BH, Child AH.

Echocardiography. 2011 Jan;28(1):29-37. doi: 10.1111/j.1540-8175.2010.01241.x. Epub 2011 Jan 4.

PMID:
21198821
[PubMed - indexed for MEDLINE]
20.

Dilated neonatal cisterna magna and Marfan syndrome.

Vasu V, Child AH, Modi N, Rutherford M, Cowan F.

BMJ Case Rep. 2011 Jul 28;2011. pii: bcr0620114328. doi: 10.1136/bcr.06.2011.4328.

PMID:
22689843
[PubMed - indexed for MEDLINE]
Free PMC Article

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