Child A - Search Results

1

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhänen L, Palotie A, Kaitila I, Peltonen L. Kainulainen K, et al. Among authors: child a. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5917-21. doi: 10.1073/pnas.89.13.5917. Proc Natl Acad Sci U S A. 1992. PMID: 1631074 Free PMC article.

2

A novel mutation of the fibrillin gene causing ectopia lentis.

Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. Lönnqvist L, et al. Among authors: child a. Genomics. 1994 Feb;19(3):573-6. doi: 10.1006/geno.1994.1110. Genomics. 1994. PMID: 8188302

3

Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.

Rantamäki T, Raghunath M, Karttunen L, Lönnqvist L, Child A, Peltonen L. Rantamäki T, et al. Among authors: child a. Prenat Diagn. 1995 Dec;15(12):1176-81. doi: 10.1002/pd.1970151217. Prenat Diagn. 1995. PMID: 8750301

4

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Kainulainen K, Steinmann B, Collins F, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock DJ, Keston M, Pyeritz RE, et al. Kainulainen K, et al. Among authors: child a. Am J Hum Genet. 1991 Sep;49(3):662-7. Am J Hum Genet. 1991. PMID: 1882844 Free PMC article.

5

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.

Raghunath M, Kielty CM, Kainulainen K, Child A, Peltonen L, Steinmann B. Raghunath M, et al. Among authors: child a. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):889-96. doi: 10.1042/bj3020889. Biochem J. 1994. PMID: 7945217 Free PMC article.

6

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts.

Kielty CM, Phillips JE, Child AH, Pope FM, Shuttleworth CA. Kielty CM, et al. Among authors: child ah. Matrix Biol. 1994 Mar;14(2):191-9. doi: 10.1016/0945-053x(94)90008-6. Matrix Biol. 1994. PMID: 8061930

7

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. Blanton SH, et al. Among authors: child ah. J Med Genet. 1990 Feb;27(2):73-7. doi: 10.1136/jmg.27.2.73. J Med Genet. 1990. PMID: 2319588 Free PMC article.

8

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. Kielty CM, et al. Among authors: child ah. J Cell Sci. 1995 Mar;108 ( Pt 3):1317-23. doi: 10.1242/jcs.108.3.1317. J Cell Sci. 1995. PMID: 7622614

9

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. de Groote J, et al. Among authors: child ah. J Med Genet. 1990 Feb;27(2):82-5. doi: 10.1136/jmg.27.2.82. J Med Genet. 1990. PMID: 1969489 Free PMC article.

10

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

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