Goodship J - Search Results

1

A case of paternal uniparental disomy for chromosome 11.

Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J. Webb A, et al. Among authors: goodship j. Prenat Diagn. 1995 Aug;15(8):773-7. doi: 10.1002/pd.1970150816. Prenat Diagn. 1995. PMID: 7479599

2

Prenatal detection of multiple copies of a familial supernumerary marker chromosome.

Wolstenholme J, Brummitt JA, English CJ, Goodship JA. Wolstenholme J, et al. Among authors: goodship ja. Prenat Diagn. 1992 Dec;12(12):1067-71. doi: 10.1002/pd.1970121214. Prenat Diagn. 1992. PMID: 1287643 Review.

3

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.

Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J. Webb AL, et al. Among authors: goodship ja. Prenat Diagn. 1996 Oct;16(10):958-62. doi: 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U. Prenat Diagn. 1996. PMID: 8938070

4

Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.

Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA. Wolstenholme J, et al. Among authors: goodship ja. Prenat Diagn. 2001 Oct;21(10):813-7. doi: 10.1002/pd.143. Prenat Diagn. 2001. PMID: 11746120

5

Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome.

Goodship J, Robson SC, Sturgiss S, Cross IE, Wright C. Goodship J, et al. Prenat Diagn. 1997 Sep;17(9):867-70. doi: 10.1002/(sici)1097-0223(199709)17:9<867::aid-pd139>3.0.co;2-b. Prenat Diagn. 1997. PMID: 9316132

6

Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells.

Webb AL, Wolstenholme J, Evans J, Macphail S, Goodship J. Webb AL, et al. Among authors: goodship j. Prenat Diagn. 1998 Jul;18(7):737-41. Prenat Diagn. 1998. PMID: 9706657

7

Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.

English CJ, Goodship JA, Jackson A, Lowry M, Wolstenholme J. English CJ, et al. Among authors: goodship ja. J Med Genet. 1994 Mar;31(3):253-4. doi: 10.1136/jmg.31.3.253. J Med Genet. 1994. PMID: 8014979 Free PMC article. Review.

8

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J. Goodship J, et al. J Med Genet. 1992 Jul;29(7):451-4. J Med Genet. 1992. PMID: 1640422 Free PMC article.

9

Early confirmation of trisomy 18 in newborn babies.

Wolstenholme J, Cross I, Goodship J. Wolstenholme J, et al. Among authors: goodship j. Lancet. 1992 Jun 6;339(8806):1416. doi: 10.1016/0140-6736(92)91236-2. Lancet. 1992. PMID: 1350825 No abstract available.

10

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study. Akawi N, et al. Among authors: goodship j. Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437029 Free PMC article.

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