SM-Youtube

1

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.

2

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.

3

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. Am J Hum Genet. 1993 Dec;53(6):1262-8. Am J Hum Genet. 1993. PMID: 8250042 Free PMC article.

4

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA. Tompson SW, et al. Among authors: goodship ja. Hum Genet. 2007 Jan;120(5):663-70. doi: 10.1007/s00439-006-0237-7. Epub 2006 Sep 21. Hum Genet. 2007. PMID: 17024374

5

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, Tielemans CL, Goodship JA, Goodship TH. Richards A, et al. Among authors: goodship ja, goodship th. Am J Hum Genet. 2001 Feb;68(2):485-90. doi: 10.1086/318203. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170896 Free PMC article.

6

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Ruiz-Perez VL, et al. Among authors: goodship ja. Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4. Am J Hum Genet. 2003. PMID: 12571802 Free PMC article.

7

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

Buddles MR, Donne RL, Richards A, Goodship J, Goodship TH. Buddles MR, et al. Am J Hum Genet. 2000 May;66(5):1721-2. doi: 10.1086/302877. Am J Hum Genet. 2000. PMID: 10762557 Free PMC article. No abstract available.

8

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

Goodship J, Malcolm S, Clarke A, Pembrey ME. Goodship J, et al. J Med Genet. 1990 Jul;27(7):422-5. doi: 10.1136/jmg.27.7.422. J Med Genet. 1990. PMID: 2395159 Free PMC article.

9

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.

Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA. Blair HJ, et al. Among authors: goodship ja. BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14. BMC Biol. 2011. PMID: 21356043 Free PMC article.

10

Evc regulates a symmetrical response to Shh signaling in molar development.

Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, MacArthur K, Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA, Peters H. Nakatomi M, et al. Among authors: goodship ja. J Dent Res. 2013 Mar;92(3):222-8. doi: 10.1177/0022034512471826. Epub 2013 Jan 11. J Dent Res. 2013. PMID: 23315474

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

170 results

Search Page

Filters

My NCBI Filters

Search Results

170 results