Jackson J - Search Results

1

Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.

Robson L, Jackson J, Cowell C, Sillence D, Smith A. Robson L, et al. Among authors: jackson j. Am J Med Genet. 1994 Apr 15;50(3):251-4. doi: 10.1002/ajmg.1320500308. Am J Med Genet. 1994. PMID: 8042669

2

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.

James C, Robson L, Jackson J, Smith A. James C, et al. Among authors: jackson j. Am J Med Genet. 1995 May 8;56(4):389-92. doi: 10.1002/ajmg.1320560408. Am J Med Genet. 1995. PMID: 7604847

3

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes.

Buchholz T, Jackson J, Robson L, Smith A. Buchholz T, et al. Among authors: jackson j. Hum Genet. 1998 Nov;103(5):535-9. doi: 10.1007/s004390050866. Hum Genet. 1998. PMID: 9860294

4

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11).

Lambert I, Kemp J, Jackson J, Joyce H, Mann S, Kan A, Smith A. Lambert I, et al. Among authors: jackson j. Prenat Diagn. 1994 Jun;14(6):507-10. doi: 10.1002/pd.1970140617. Prenat Diagn. 1994. PMID: 7937590

5

Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.

Buchholz T, Jackson J, Smith A. Buchholz T, et al. Among authors: jackson j. Am J Med Genet. 1997 Oct 3;72(1):117-9. Am J Med Genet. 1997. PMID: 9295088 No abstract available.

6

How accurate does rapid fetal karyotyping need to be? Case of unbalanced t(13;18).

Jackson J, Robson L, Meagher S, Watson G, Smith A. Jackson J, et al. Prenat Diagn. 1993 Aug;13(8):767-70. doi: 10.1002/pd.1970130812. Prenat Diagn. 1993. PMID: 8284295 No abstract available.

7

Karyotype, phenotype and parental origin in 19 cases of triploidy.

Daniel A, Wu Z, Bennetts B, Slater H, Osborn R, Jackson J, Pupko V, Nelson J, Watson G, Cooke-Yarborough C, Loo C. Daniel A, et al. Among authors: jackson j. Prenat Diagn. 2001 Dec;21(12):1034-48. doi: 10.1002/pd.164. Prenat Diagn. 2001. PMID: 11746161

8

Three different origins for apparent triploid/diploid mosaics.

Daniel A, Wu Z, Darmanian A, Collins F, Jackson J. Daniel A, et al. Among authors: jackson j. Prenat Diagn. 2003 Jul;23(7):529-34. doi: 10.1002/pd.634. Prenat Diagn. 2003. PMID: 12868076

9

Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association.

Neas K, Peters G, Jackson J, Tembe M, Wu ZH, Brohede J, Hannan GN, Collins F. Neas K, et al. Among authors: jackson j. Clin Dysmorphol. 2006 Jan;15(1):1-8. doi: 10.1097/01.mcd.0000184966.46231.49. Clin Dysmorphol. 2006. PMID: 16317299

10

Autosomal recessive transmission of TRAPS in a family with a novel TNFRSF1A mutation.

Wong KK, Jackson J, Whidborne R, Mallon D, Bennetts B, D'Orsogna LJ. Wong KK, et al. Among authors: jackson j. Scand J Rheumatol. 2015 May;44(3):255-6. doi: 10.3109/03009742.2015.1005663. Epub 2015 Mar 6. Scand J Rheumatol. 2015. PMID: 25744939 No abstract available.

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