Delatycki MB - Search Results

1

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.

Cloney T, Gallacher L, Pais LS, Tan NB, Yeung A, Stark Z, Brown NJ, McGillivray G, Delatycki MB, de Silva MG, Downie L, Stutterd CA, Elliott J, Compton AG, Lovgren A, Oertel R, Francis D, Bell KM, Sadedin S, Lim SC, Helman G, Simons C, Macarthur DG, Thorburn DR, O'Donnell-Luria AH, Christodoulou J, White SM, Tan TY. Cloney T, et al. Among authors: delatycki mb. J Med Genet. 2022 Aug;59(8):748-758. doi: 10.1136/jmedgenet-2021-107902. Epub 2021 Nov 5. J Med Genet. 2022. PMID: 34740920 Free PMC article.

2

Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.

Delatycki MB, Voullaire L, Francis D, Petrovic V, Robertson A, Webber LM, Slater HR. Delatycki MB, et al. J Med Genet. 1999 Apr;36(4):335-8. J Med Genet. 1999. PMID: 10227406 Free PMC article.

3

Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia.

Delatycki MB, Camakaris J, Brooks H, Evans-Whipp T, Thorburn DR, Williamson R, Forrest SM. Delatycki MB, et al. Ann Neurol. 1999 May;45(5):673-5. Ann Neurol. 1999. PMID: 10319894

4

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Savarirayan R, et al. Among authors: delatycki mb. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. Am J Med Genet A. 2003. PMID: 12567410

5

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

6

Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

de Silva MG, Elliott K, Dahl HH, Fitzpatrick E, Wilcox S, Delatycki M, Williamson R, Efron D, Lynch M, Forrest S. de Silva MG, et al. J Med Genet. 2003 Oct;40(10):733-40. doi: 10.1136/jmg.40.10.733. J Med Genet. 2003. PMID: 14569117 Free PMC article.

7

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. Turner G, et al. Clin Genet. 2004 Mar;65(3):226-32. doi: 10.1111/j.0009-9163.2004.00215.x. Clin Genet. 2004. PMID: 14756673

8

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. Among authors: delatycki mb. 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

9

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability.

Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Snape KM, et al. Among authors: delatycki mb. Clin Dysmorphol. 2006 Apr;15(2):95-9. doi: 10.1097/01.mcd.0000203633.86190.2d. Clin Dysmorphol. 2006. PMID: 16531736

10

Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia.

Trembath MK, Tassicker RJ, Collins VR, Mansie S, Sheffield LJ, Delatycki MB. Trembath MK, et al. Among authors: delatycki mb. Genet Med. 2006 Nov;8(11):673-80. doi: 10.1097/01.gim.0000245633.97952.f1. Genet Med. 2006. PMID: 17108758 Free article.

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