Goodship JA - Search Results

1

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Bamford RN, et al. Among authors: goodship ja. Nat Genet. 2000 Nov;26(3):365-9. doi: 10.1038/81695. Nat Genet. 2000. PMID: 11062482

2

Defects in the determination of left-right asymmetry.

Splitt MP, Burn J, Goodship J. Splitt MP, et al. J Med Genet. 1996 Jun;33(6):498-503. doi: 10.1136/jmg.33.6.498. J Med Genet. 1996. PMID: 8782051 Free PMC article. Review. No abstract available.

3

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184

4

Connexin43 mutations in sporadic and familial defects of laterality.

Splitt MP, Burn J, Goodship J. Splitt MP, et al. N Engl J Med. 1995 Oct 5;333(14):941; author reply 941-2. N Engl J Med. 1995. PMID: 7666890 No abstract available.

5

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Goodship J, et al. Am J Hum Genet. 2000 Aug;67(2):498-503. doi: 10.1086/303023. Epub 2000 Jul 11. Am J Hum Genet. 2000. PMID: 10889046 Free PMC article.

6

Another case of maternal uniparental disomy chromosome 14 syndrome.

Splitt MP, Goodship JA. Splitt MP, et al. Among authors: goodship ja. Am J Med Genet. 1997 Oct 17;72(2):239-40. doi: 10.1002/(sici)1096-8628(19971017)72:2<239::aid-ajmg21>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9382150 No abstract available.

7

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse.

Morgan D, Turnpenny L, Goodship J, Dai W, Majumder K, Matthews L, Gardner A, Schuster G, Vien L, Harrison W, Elder FF, Penman-Splitt M, Overbeek P, Strachan T. Morgan D, et al. Nat Genet. 1998 Oct;20(2):149-56. doi: 10.1038/2450. Nat Genet. 1998. PMID: 9771707

8

Left-isomerism sequence and maternal type-1 diabetes.

Splitt M, Wright C, Sen D, Goodship J. Splitt M, et al. Lancet. 1999 Jul 24;354(9175):305-6. doi: 10.1016/S0140-6736(99)01942-X. Lancet. 1999. PMID: 10440314

9

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Among authors: goodship ja. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.

10

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. Hoischen A, et al. Among authors: goodship j. Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868. Nat Genet. 2011. PMID: 21706002

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