PubMed

Biventricular and atrial diastolic function assessment using conventional echocardiography and tissue-Doppler imaging in adults with Marfan syndrome.

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

Eur J Echocardiogr. 2009 Dec;10(8):947-55. Epub 2009 Sep 29.PMID: 19793727 [PubMed - in process]Related articlesFree article

The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography.

Kiotsekoglou A, Sutherland GR, Moggridge JC, Nassiri DK, Camm AJ, Child AH.

Heart. 2009 Oct;95(19):1561-6. Epub 2009 Feb 17. Review.PMID: 19224905 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.

Pediatrics. 2009 Jan;123(1):391-8.PMID: 19117906 [PubMed - indexed for MEDLINE]Related articles

Assessment of carotid compliance using real time vascular ultrasound image analysis in Marfan syndrome.

Kiotsekoglou A, Moggridge JC, Kapetanakis V, Newey VR, Kourliouros A, Mullen MJ, Kaski JC, Nassiri DK, Camm J, Sutherland GR, Child AH.

Echocardiography. 2009 Apr;26(4):441-51. Epub 2008 Nov 27.PMID: 19054030 [PubMed - indexed for MEDLINE]Related articles

Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?

Dundar M, Erkilic K, Argun M, Caglayan AO, Comeglio P, Koseoglu E, Matyas G, Child AH.

Genet Couns. 2008;19(3):319-30.PMID: 18990988 [PubMed - indexed for MEDLINE]Related articles

Impaired right ventricular systolic function demonstrated by reduced atrioventricular plane displacement in adults with Marfan syndrome.

Kiotsekoglou A, Sutherland GR, Moggridge JC, Kapetanakis V, Bajpai A, Bunce N, Mullen MJ, Louridas G, Nassiri DK, Camm J, Child AH.

Eur J Echocardiogr. 2009 Mar;10(2):295-302. Epub 2008 Sep 18.PMID: 18801726 [PubMed - in process]Related articlesFree article

Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma.

Aragon-Martin JA, Ritch R, Liebmann J, O'Brien C, Blaaow K, Mercieca F, Spiteri A, Cobb CJ, Damji KF, Tarkkanen A, Rezaie T, Child AH, Sarfarazi M.

Mol Vis. 2008 Mar 17;14:533-41.PMID: 18385788 [PubMed - indexed for MEDLINE]Related articlesFree article

Early impairment of left ventricular long-axis systolic function demonstrated by reduced atrioventricular plane displacement in patients with Marfan syndrome.

Kiotsekoglou A, Bajpai A, Bijnens BH, Kapetanakis V, Athanassopoulos G, Moggridge JC, Mullen MJ, Nassiri DK, Camm J, Sutherland GR, Child AH.

Eur J Echocardiogr. 2008 Sep;9(5):605-13. Epub 2008 Feb 22.PMID: 18296719 [PubMed - indexed for MEDLINE]Related articlesFree article

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel.

Ocaka L, Zhao C, Reed JA, Ebenezer ND, Brice G, Morley T, Mehta M, O'Dowd J, Weber JL, Hardcastle AJ, Child AH.

J Med Genet. 2008 Feb;45(2):87-92. Epub 2007 Oct 11.PMID: 17932119 [PubMed - indexed for MEDLINE]Related articles

The -174G/C interleukin-6 promoter polymorphism influences the development of macular oedema following uncomplicated phacoemulsification surgery.

Masood I, Negi A, Vernon SA, Comeglio P, Child AH.

Eye (Lond). 2007 Nov;21(11):1412-5. Epub 2006 Oct 6.PMID: 17024220 [PubMed - indexed for MEDLINE]Related articles

Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction.

Martin AG, Foguet PR, Marks DS, Thompson AG, Child AH.

Eur Spine J. 2006 Apr;15(4):433-9. Epub 2005 Sep 20.PMID: 16172901 [PubMed - indexed for MEDLINE]Related articles

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.

Aung T, Rezaie T, Okada K, Viswanathan AC, Child AH, Brice G, Bhattacharya SS, Lehmann OJ, Sarfarazi M, Hitchings RA.

Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2816-22.PMID: 16043855 [PubMed - indexed for MEDLINE]Related articlesFree article

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S.

Hum Genet. 2005 Jul;117(2-3):238-42. Epub 2005 May 20.PMID: 15906099 [PubMed - indexed for MEDLINE]Related articles

Milroy disease and the VEGFR-3 mutation phenotype.

Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P.

J Med Genet. 2005 Feb;42(2):98-102. Review.PMID: 15689446 [PubMed - indexed for MEDLINE]Related articlesFree article

Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.

Elçioglu NH, Akalin F, Elçioglu M, Comeglio P, Child AH.

Genet Couns. 2004;15(2):219-25.PMID: 15287423 [PubMed - indexed for MEDLINE]Related articles

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH.

J Med Genet. 2003 Sep;40(9):697-703. No abstract available. PMID: 12960217 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing.

Aung T, Ebenezer ND, Brice G, Child AH, Prescott Q, Lehmann OJ, Hitchings RA, Bhattacharya SS.

J Med Genet. 2003 Aug;40(8):e101. No abstract available. PMID: 12920093 [PubMed - indexed for MEDLINE]Related articlesFree article

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG.

J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8.PMID: 12700307 [PubMed - indexed for MEDLINE]Related articlesFree article

Gene symbol: FBN1. Disease: Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH.

Hum Genet. 2003 Jan;112(1):104. No abstract available. PMID: 12575662 [PubMed - indexed for MEDLINE]Related articles

The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.

Aung T, Okada K, Poinoosawmy D, Membrey L, Brice G, Child AH, Bhattacharya SS, Lehmann OJ, Garway-Heath DF, Hitchings RA.

Br J Ophthalmol. 2003 Feb;87(2):149-52.PMID: 12543739 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH.

Br J Ophthalmol. 2002 Dec;86(12):1359-62.PMID: 12446365 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA.

J Med Genet. 2002 Jul;39(7):478-83.PMID: 12114478 [PubMed - indexed for MEDLINE]Related articlesFree article

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS.

Hum Genet. 2002 May;110(5):513-4. Epub 2002 Apr 10.PMID: 12073024 [PubMed - indexed for MEDLINE]Related articles

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Krawczak M, Thiselton DL, Alexander C, Votruba M, Brice G, Child AH, Francis PJ, Hitchings RA, Lehmann OJ, Bhattacharya SS.

Hum Genet. 2002 Jan;110(1):52-6. Epub 2001 Nov 23.PMID: 11810296 [PubMed - indexed for MEDLINE]Related articles

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

Comeglio P, Evans AL, Brice GW, Child AH.

Hum Mutat. 2001 Dec;18(6):546-7.PMID: 11748851 [PubMed - indexed for MEDLINE]Related articles

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

Comeglio P, Evans AL, Brice GW, Child AH.

Hum Mutat. 2001 Sep;18(3):251. Corrected and republished in: Hum Mutat. 2001 Dec;18(6):546-7. PMID: 11524736 [PubMed - indexed for MEDLINE]Related articles

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S.

Hum Genet. 2001 Jun;108(6):546-51.PMID: 11499682 [PubMed - indexed for MEDLINE]Related articles

Reduction of the genetic interval for lyphoedema-distichiasis to below 2 Mb.

Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Mortimer P, Callen DF, Burnand K.

J Med Genet. 2000 Sep;37(9):725. No abstract available. PMID: 11182939 [PubMed - indexed for MEDLINE]Related articlesFree article

Fibromyalgia, hypermobility, and breast implants.

Lai S, Goldman JA, Child AH, Engel A, Lamm SH.

J Rheumatol. 2000 Sep;27(9):2237-41.PMID: 10990240 [PubMed - indexed for MEDLINE]Related articles

Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy.

Rosbotham JL, Brice GW, Child AH, Nunan TO, Mortimer PS, Burnand KG.

Br J Dermatol. 2000 Jan;142(1):148-52.PMID: 10651712 [PubMed - indexed for MEDLINE]Related articles

A gene for lymphedema-distichiasis maps to 16q24.3.

Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S.

Am J Hum Genet. 1999 Aug;65(2):427-32.PMID: 10417285 [PubMed - indexed for MEDLINE]Related articlesFree article

Cause of primary congenital lymphedema.

Child AH, Beninson J, Sarfarazi M.

Angiology. 1999 Apr;50(4):325-6. No abstract available. PMID: 10225468 [PubMed - indexed for MEDLINE]Related articles

The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.

Beesley CE, Child AH, Yacoub MH.

Hum Mutat. 1998;11(5):413.PMID: 10206684 [PubMed - indexed for MEDLINE]Related articles

Limulus antilipopolysaccharide factor prevents mortality late in the course of endotoxemia.

Roth RI, Su D, Child AH, Wainwright NR, Levin J.

J Infect Dis. 1998 Feb;177(2):388-94.PMID: 9466526 [PubMed - indexed for MEDLINE]Related articles

Marfan syndrome--current medical and genetic knowledge: how to treat and when.

Child AH.

J Card Surg. 1997 Mar-Apr;12(2 Suppl):131-5; discussion 135-6. Review.PMID: 9271736 [PubMed - indexed for MEDLINE]Related articles

Assessment of bone mineral density in women with Marfan syndrome.

Tobias JH, Dalzell N, Child AH.

Br J Rheumatol. 1995 Jun;34(6):516-9.PMID: 7633792 [PubMed - indexed for MEDLINE]Related articles

Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.

Kielty CM, Rantamäki T, Child AH, Shuttleworth CA, Peltonen L.

J Cell Sci. 1995 Mar;108 ( Pt 3):1317-23.PMID: 7622614 [PubMed - indexed for MEDLINE]Related articlesFree article

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts.

Kielty CM, Phillips JE, Child AH, Pope FM, Shuttleworth CA.

Matrix Biol. 1994 Mar;14(2):191-9.PMID: 8061930 [PubMed - indexed for MEDLINE]Related articles

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.

Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B, et al.

N Engl J Med. 1992 Apr 2;326(14):905-9.PMID: 1542340 [PubMed - indexed for MEDLINE]Related articles

Segregation analysis of collagen genes in two families with joint hypermobility syndrome.

Henney AM, Brotherton DH, Child AH, Humphries SE, Grahame R.

Br J Rheumatol. 1992 Mar;31(3):169-74.PMID: 1540784 [PubMed - indexed for MEDLINE]Related articles

Understanding Marfan's syndrome.

Child AH.

BMJ. 1992 Jan 11;304(6819):121. No abstract available. PMID: 1737128 [PubMed - indexed for MEDLINE]Related articlesFree article

An exclusion map of Marfan syndrome.

Blanton SH, Sarfarazi M, Eiberg H, de Groote J, Farndon PA, Kilpatrick MW, Child AH, Pope FM, Peltonen L, Francomano CA, et al.

J Med Genet. 1990 Feb;27(2):73-7.PMID: 2319588 [PubMed - indexed for MEDLINE]Related articlesFree article

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

de Groote J, Farndon PA, Kilpatrick MV, de Paepe A, Oorthuys JW, Nevin NC, Child AH, Pope FM.

J Med Genet. 1990 Feb;27(2):82-5.PMID: 1969489 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse.

Henney AM, Tsipouras P, Schwartz RC, Child AH, Devereux RB, Leech GJ.

Br Heart J. 1989 Mar;61(3):292-9.PMID: 2930668 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial abdominal aortic aneurysms.

Loosemore TM, Child AH, Dormandy JA.

J R Soc Med. 1988 Aug;81(8):472-3. No abstract available. PMID: 3418662 [PubMed - indexed for MEDLINE]Related articlesFree article

Diagnosing Marfan's syndrome.

Child AH.

Br Med J (Clin Res Ed). 1988 Jun 11;296(6637):1673-4. No abstract available. PMID: 3135075 [PubMed - indexed for MEDLINE]Related articlesFree article

Biochemical characterization of individual normal, floppy and rheumatic human mitral valves.

Lis Y, Burleigh MC, Parker DJ, Child AH, Hogg J, Davies MJ.

Biochem J. 1987 Jun 15;244(3):597-603.PMID: 3446179 [PubMed - indexed for MEDLINE]Related articlesFree article

Joint hypermobility syndrome: inherited disorder of collagen synthesis.

Child AH.

J Rheumatol. 1986 Apr;13(2):239-43. No abstract available. PMID: 3723490 [PubMed - indexed for MEDLINE]Related articles

Pulmonary disease in patients with Marfan syndrome.

Wood JR, Bellamy D, Child AH, Citron KM.

Thorax. 1984 Oct;39(10):780-4.PMID: 6495247 [PubMed - indexed for MEDLINE]Related articlesFree article

Type III collagen deficiency with normal phenotype.

Pope FM, Child AH, Nicholls AC, Narcisi P, Dorrance DE.

J R Soc Med. 1983 Jun;76(6):518-20. No abstract available. PMID: 6864723 [PubMed - indexed for MEDLINE]Related articlesFree article