1 - 25 of 38 results for author:"Child A." in Literature citations
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| In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Carmignac V., Thevenon J., Ades L., Callewaert B., Julia S., Thauvin-Robinet C., Gueneau L., Courcet J.B., Lopez E., Holman K. et al. Am. J. Hum. Genet. 91:950-957(2012) · Mapped (4) |
| A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Chandra A., Aragon-Martin J.A., Hughes K., Gati S., Reddy M.A., Deshpande C., Cormack G., Child A.H., Charteris D.G., Arno G. Invest. Ophthalmol. Vis. Sci. 53:4889-4896(2012) · Mapped (14) |
| Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. CARDIoGRAM Consortium Am. J. Hum. Genet. 89:619-627(2011) · Mapped (8) |
| 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 M.A., Brice G., Mansour S., Connell F.C., Onoufriadis A., Child A.H., Hwang J., Kalidas K., Mortimer P.S. et al. J. Med. Genet. 48:251-255(2011) · Mapped (1) |
| Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Stheneur C., Faivre L., Collod-Beroud G., Gautier E., Binquet C., Bonithon-Kopp C., Claustres M., Child A.H., Arbustini E., Ades L.C. et al. Pediatr. Res. 69:265-270(2011) · Mapped (6) |
| Cardiovascular manifestations in men and women carrying a FBN1 mutation. Detaint D., Faivre L., Collod-Beroud G., Child A.H., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Eur. Heart J. 31:2223-2229(2010) · Mapped (6) |
| Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Aragon-Martin J.A., Ahnood D., Charteris D.G., Saggar A., Nischal K.K., Comeglio P., Chandra A., Child A.H., Arno G. Hum. Mutat. 31:E1622-31(2010) · Mapped (14) |
| Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Faivre L., Collod-Beroud G., Callewaert B., Child A., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Am. J. Med. Genet. A 149A:854-860(2009) · Mapped (6) |
| 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-Beroud G., Callewaert B.L., Child A.H., Stheneur C., Binquet C., Gautier E., Chevallier B., Huet F. et al. Pediatrics 123:391-398(2009) · Mapped (6) |
| Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Faivre L., Collod-Beroud G., Callewaert B., Child A., Binquet C., Gautier E., Loeys B.L., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Eur. J. Hum. Genet. 17:491-501(2009) · Mapped (6) |
| Rosiglitazone and delayed onset of proliferative diabetic retinopathy. Shen L.Q., Child A., Weber G.M., Folkman J., Aiello L.P. Arch. Ophthalmol. 126:793-799(2008) · Mapped (1) |
| Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. Aragon-Martin J.A., Ritch R., Liebmann J., O'Brien C., Blaaow K., Mercieca F., Spiteri A., Cobb C.J., Damji K.F., Tarkkanen A. et al. Mol. Vis. 14:533-541(2008) · Mapped (2) |
| Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. Faivre L., Collod-Beroud G., Child A., Callewaert B., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M. et al. J. Med. Genet. 45:384-390(2008) · Mapped (6) |
| Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2. Rezaie T., Ghoroghchian R., Bell R., Brice G., Hasan A., Burnand K., Vernon S., Mansour S., Mortimer P., Jeffery S. et al. Eur. J. Hum. Genet. 16:300-304(2008) · Mapped (1) |
| Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Faivre L., Collod-Beroud G., Loeys B.L., Child A., Binquet C., Gautier E., Callewaert B., Arbustini E., Mayer K., Arslan-Kirchner M. et al. Am. J. Hum. Genet. 81:454-466(2007) · Mapped (6) |
| 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 F.P., Kiotsekoglou A., Child A. Hum. Mutat. 28:928-928(2007) · Mapped (6) |
| The -174G/C interleukin-6 promoter polymorphism influences the development of macular oedema following uncomplicated phacoemulsification surgery. Masood I., Negi A., Vernon S.A., Comeglio P., Child A.H. Eye (Lond) 21:1412-1415(2007) · Mapped (5) |
| Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Aung T., Rezaie T., Okada K., Viswanathan A.C., Child A.H., Brice G., Bhattacharya S.S., Lehmann O.J., Sarfarazi M., Hitchings R.A. Invest. Ophthalmol. Vis. Sci. 46:2816-2822(2005) · Mapped (3) |
| Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Monemi S., Spaeth G., DaSilva A., Popinchalk S., Ilitchev E., Liebmann J., Ritch R., Heon E., Crick R.P., Child A. et al. Hum. Mol. Genet. 14:725-733(2005) · UniProtKB (1) · Mapped (1) |
| Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing. Aung T., Ebenezer N.D., Brice G., Child A.H., Prescott Q., Lehmann O.J., Hitchings R.A., Bhattacharya S.S. J. Med. Genet. 40:e101-e101(2003) · Mapped (3) |
| Gene symbol: FBN1. Disease: Marfan syndrome. Comeglio P., Evans A.L., Brice G.W., Anderlid B.M., Child A.H. Hum. Genet. 112:104-104(2003) · Mapped (6) |
| The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Aung T., Okada K., Poinoosawmy D., Membrey L., Brice G., Child A.H., Bhattacharya S.S., Lehmann O.J., Garway-Heath D.F., Hitchings R.A. Br J Ophthalmol 87:149-152(2003) · Mapped (10) |
| 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 J.R., Child A.H., Brady A.F., Sarfarazi M., Burnand K.G., Jeffery S., Mortimer P. et al. J. Med. Genet. 39:478-483(2002) · Mapped (1) |
| Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Aung T., Ocaka L., Ebenezer N.D., Morris A.G., Brice G., Child A.H., Hitchings R.A., Lehmann O.J., Bhattacharya S.S. Hum. Genet. 110:513-514(2002) · Mapped (10) |
| Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M., Heon E., Krupin T., Ritch R., Kreutzer D. et al. |