Gardner RJ - Search Results

1

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.

Delatycki MB, Pertile MD, Gardner RJ. Delatycki MB, et al. Among authors: gardner rj. Prenat Diagn. 1998 Jan;18(1):45-50. doi: 10.1002/(sici)1097-0223(199801)18:1<45::aid-pd216>3.0.co;2-c. Prenat Diagn. 1998. PMID: 9483639

2

Three cases of trisomy 13 mosaicism and a review of the literature.

Delatycki M, Gardner RJ. Delatycki M, et al. Among authors: gardner rj. Clin Genet. 1997 Jun;51(6):403-7. doi: 10.1111/j.1399-0004.1997.tb02499.x. Clin Genet. 1997. PMID: 9237504 Review.

3

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Amor DJ, Delatycki MB, Gardner RJ, Storey E. Amor DJ, et al. Among authors: gardner rj. Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11170090 Review.

4

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.

Delatycki MB, Paris D, Gardner RJ, Forshaw K, Nicholson GA, Nassif N, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: gardner rj. J Med Genet. 1998 Sep;35(9):713-6. doi: 10.1136/jmg.35.9.713. J Med Genet. 1998. PMID: 9733027 Free PMC article.

5

Clinical and genetic study of Friedreich ataxia in an Australian population.

Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: gardner rj. Am J Med Genet. 1999 Nov 19;87(2):168-74. doi: 10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10533031

6

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.

Rizzo WB, Craft DA, Kelson TL, Bonnefont JP, Saudubray JM, Schulman JD, Black SH, Tabsh K, Dirocco M, Gardner RJ. Rizzo WB, et al. Among authors: gardner rj. Prenat Diagn. 1994 Jul;14(7):577-81. doi: 10.1002/pd.1970140711. Prenat Diagn. 1994. PMID: 7971759

7

Trisomy 16 detected at chorion villus sampling.

Hashish AF, Monk NA, Lovell-Smith MP, Bardwell LM, Fiddes TM, Gardner RJ. Hashish AF, et al. Among authors: gardner rj. Prenat Diagn. 1989 Jun;9(6):427-32. doi: 10.1002/pd.1970090608. Prenat Diagn. 1989. PMID: 2762234

8

The phenotype in placental trisomy 7.

Watt AJ, Devereux FJ, Monk NA, Myers CJ, Gardner RJ. Watt AJ, et al. Among authors: gardner rj. Aust N Z J Obstet Gynaecol. 1991 Aug;31(3):246-8. doi: 10.1111/j.1479-828x.1991.tb02791.x. Aust N Z J Obstet Gynaecol. 1991. PMID: 1804088

9

Early prenatal diagnosis of genetic abnormality by chorion villus sampling.

Fiddes TM, Monk NA, Hashish AF, Richards BJ, Bardwell LM, Watt AJ, Gardner RJ. Fiddes TM, et al. Among authors: gardner rj. N Z Med J. 1990 Apr 11;103(887):157-8. N Z Med J. 1990. PMID: 2342673

10

Mosaicism with a normal cell line and an autosomal structural rearrangement.

Gardner RJ, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ. Gardner RJ, et al. J Med Genet. 1994 Feb;31(2):108-14. doi: 10.1136/jmg.31.2.108. J Med Genet. 1994. PMID: 8182714 Free PMC article.

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