Brueton LA - Search Results

1

Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.

Brueton LA, Huson SM, Cox PM, Shirley I, Thompson EM, Barnes PR, Price J, Newsom-Davis J, Vincent A. Brueton LA, et al. Am J Med Genet. 2000 May 1;92(1):1-6. doi: 10.1002/(sici)1096-8628(20000501)92:1<1::aid-ajmg1>3.0.co;2-h. Am J Med Genet. 2000. PMID: 10797415

2

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen.

Vincent A, Newland C, Brueton L, Beeson D, Riemersma S, Huson SM, Newsom-Davis J. Vincent A, et al. Lancet. 1995 Jul 1;346(8966):24-5. doi: 10.1016/s0140-6736(95)92652-6. Lancet. 1995. PMID: 7603140

3

Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother.

Barnes PR, Kanabar DJ, Brueton L, Newsom-Davis J, Huson SM, Mann NP, Hilton-Jones D. Barnes PR, et al. Neuromuscul Disord. 1995 Jan;5(1):59-65. doi: 10.1016/0960-8966(94)e0029-8. Neuromuscul Disord. 1995. PMID: 7719143

4

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

Brueton L, Huson SM, Winter RM, Williamson R. Brueton L, et al. Am J Med Genet. 1988 Dec;31(4):799-804. doi: 10.1002/ajmg.1320310412. Am J Med Genet. 1988. PMID: 3239571

5

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM. Brueton LA, et al. Am J Med Genet. 1992 Jun 1;43(3):612-8. doi: 10.1002/ajmg.1320430322. Am J Med Genet. 1992. PMID: 1605259

6

Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

Brueton LA, Huson SM, Farren B, Winter RM. Brueton LA, et al. J Med Genet. 1990 Mar;27(3):169-75. doi: 10.1136/jmg.27.3.169. J Med Genet. 1990. PMID: 2157843 Free PMC article.

7

Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

Brueton LA, Barber JC, Huson SM, Winter RM. Brueton LA, et al. J Med Genet. 1989 Nov;26(11):729-30. doi: 10.1136/jmg.26.11.729. J Med Genet. 1989. PMID: 2479748 Free PMC article. Review.

8

VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene.

Cox PM, Gibson RA, Morgan N, Brueton LA. Cox PM, et al. Among authors: brueton la. Am J Med Genet. 1997 Jan 10;68(1):86-90. Am J Med Genet. 1997. PMID: 8986283

9

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

Cox PM, Brueton LA, Murphy KW, Worthington VC, Bjelogrlic P, Lazda EJ, Sabire NJ, Sewry CA. Cox PM, et al. Among authors: brueton la. Am J Med Genet. 1999 Sep 10;86(2):187-93. doi: 10.1002/(sici)1096-8628(19990910)86:2<187::aid-ajmg20>3.0.co;2-7. Am J Med Genet. 1999. PMID: 10449659

10

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. Morgan NV, et al. Among authors: brueton la. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826531 Free PMC article.

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