Amor DJ - Search Results

1

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Archibald AD, et al. Among authors: amor dj. Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266. Genet Med. 2018. PMID: 29388943 Free article.

2

46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism.

Amor D, Delatycki MB, Susman M, Casey E, Nash T, Warne G, Hutson J. Amor D, et al. J Med Genet. 1999 Nov;36(11):866-9. J Med Genet. 1999. PMID: 10636735 Free PMC article. No abstract available.

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. 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

Genetic factors in athetoid cerebral palsy.

Amor DJ, Craig JE, Delatycki MB, Reddihough D. Amor DJ, et al. J Child Neurol. 2001 Nov;16(11):793-7. doi: 10.1177/08830738010160110301. J Child Neurol. 2001. PMID: 11732763

5

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

6

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism.

Amor DJ, Neo WT, Waters E, Heussler H, Pertile M, Halliday J. Amor DJ, et al. Prenat Diagn. 2006 May;26(5):443-8. doi: 10.1002/pd.1433. Prenat Diagn. 2006. PMID: 16548008

7

Increased genetic counseling support improves communication of genetic information in families.

Forrest LE, Burke J, Bacic S, Amor DJ. Forrest LE, et al. Among authors: amor dj. Genet Med. 2008 Mar;10(3):167-72. doi: 10.1097/GIM.0b013e318164540b. Genet Med. 2008. PMID: 18344705 Free article.

8

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: amor dj. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

9

Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

Yeung A, Francis D, Giouzeppos O, Amor DJ. Yeung A, et al. Among authors: amor dj. Am J Med Genet A. 2009 Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664. Am J Med Genet A. 2009. PMID: 19215037

10

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

Hunter M, Bruno D, Amor DJ. Hunter M, et al. Among authors: amor dj. Am J Med Genet A. 2009 Aug;149A(8):1763-7. doi: 10.1002/ajmg.a.32954. Am J Med Genet A. 2009. PMID: 19610086

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