Goodship J - Search Results

1

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Wilson L, Curtis A, Korenberg JR, Schipper RD, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J. Wilson L, et al. Among authors: goodship j. Am J Hum Genet. 1993 Dec;53(6):1262-8. Am J Hum Genet. 1993. PMID: 8250042 Free PMC article.

2

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J, et al. Wilson DI, et al. Among authors: goodship ja. Am J Hum Genet. 1992 Nov;51(5):957-63. Am J Hum Genet. 1992. PMID: 1415264 Free PMC article.

3

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Garcia CC, et al. Among authors: goodship ja. J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680. J Med Genet. 2004. PMID: 14985377 Free PMC article.

4

Deletions within chromosome 22q11 in familial congenital heart disease.

Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ. Wilson DI, et al. Among authors: goodship ja. Lancet. 1992 Sep 5;340(8819):573-5. doi: 10.1016/0140-6736(92)92107-q. Lancet. 1992. PMID: 1355155

5

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. Wilson DI, et al. Among authors: goodship ja. Br Heart J. 1991 Oct;66(4):308-12. doi: 10.1136/hrt.66.4.308. Br Heart J. 1991. PMID: 1747284 Free PMC article.

6

New dysmorphic syndrome with choanal atresia in siblings.

Burn J, McKeown C, Wagget J, Bray R, Goodship J. Burn J, et al. Among authors: goodship j. Clin Dysmorphol. 1992 Jul;1(3):137-44. Clin Dysmorphol. 1992. PMID: 1342861

7

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, et al. Carey AH, et al. Among authors: goodship j. Am J Hum Genet. 1992 Nov;51(5):964-70. Am J Hum Genet. 1992. PMID: 1415265 Free PMC article.

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

Transmission of Proteus syndrome from father to son?

Goodship J, Redfearn A, Milligan D, Gardner-Medwin D, Burn J. Goodship J, et al. J Med Genet. 1991 Nov;28(11):781-5. doi: 10.1136/jmg.28.11.781. J Med Genet. 1991. PMID: 1770536 Free PMC article.

10

A male with type I orofaciodigital syndrome.

Goodship J, Platt J, Smith R, Burn J. Goodship J, et al. J Med Genet. 1991 Oct;28(10):691-4. doi: 10.1136/jmg.28.10.691. J Med Genet. 1991. PMID: 1941964 Free PMC article.

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