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Items: 1 to 50 of 83

1.

A review of structural brain abnormalities in Pallister-Killian syndrome.

Poulton C, Baynam G, Yates C, Alinejad-Rokny H, Williams S, Wright H, Woodward KJ, Sivamoorthy S, Peverall J, Shipman P, Ravine D, Beilby J, Heng JI.

Mol Genet Genomic Med. 2018 Jan;6(1):92-98. doi: 10.1002/mgg3.351. Epub 2017 Dec 9. Review.

2.

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder.

Masi A, Breen EJ, Alvares GA, Glozier N, Hickie IB, Hunt A, Hui J, Beilby J, Ravine D, Wray J, Whitehouse AJO, Guastella AJ.

Mol Autism. 2017 Dec 2;8:63. doi: 10.1186/s13229-017-0176-2. eCollection 2017.

3.

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.

Hemming IA, Forrest AR, Shipman P, Woodward KJ, Walsh P, Ravine DG, Heng JI.

Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):458-67. doi: 10.1002/ajmg.b.32427. Epub 2016 Feb 7. Review.

PMID:
26853090
4.

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.

An JY, Cristino AS, Zhao Q, Edson J, Williams SM, Ravine D, Wray J, Marshall VM, Hunt A, Whitehouse AJ, Claudianos C.

Transl Psychiatry. 2014 Jun 3;4:e394. doi: 10.1038/tp.2014.38.

5.

Development and validation of a family history screening questionnaire in Australian primary care.

Emery JD, Reid G, Prevost AT, Ravine D, Walter FM.

Ann Fam Med. 2014 May-Jun;12(3):241-9. doi: 10.1370/afm.1617.

6.

Brief report: do the nature of communication impairments in autism spectrum disorders relate to the broader autism phenotype in parents?

Taylor LJ, Maybery MT, Wray J, Ravine D, Hunt A, Whitehouse AJ.

J Autism Dev Disord. 2013 Dec;43(12):2984-9. doi: 10.1007/s10803-013-1838-3.

PMID:
23619954
7.

SNP-based arrays complement classic cytogenetics in the detection of chromosomal aberrations in Wilms' tumor.

Zin R, Pham K, Ashleigh M, Ravine D, Waring P, Charles A.

Cancer Genet. 2012 Mar;205(3):80-93. doi: 10.1016/j.cancergen.2011.12.003.

PMID:
22469507
8.

Quality standards and samples in genetic testing.

Ravine D, Suthers G.

J Clin Pathol. 2012 May;65(5):389-93. doi: 10.1136/jclinpath-2011-200519. Epub 2012 Jan 18.

9.

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X.

Clin Genet. 2012 Dec;82(6):526-33. doi: 10.1111/j.1399-0004.2011.01838.x. Epub 2012 Jan 20.

PMID:
22182064
10.

A retrospective audit of family history records in short-stay medical admissions.

Langlands AR, Prentice DA, Ravine D.

Med J Aust. 2010 Jun 21;192(12):682-4.

PMID:
20565344
11.

Family history: the neglected risk factor in disease prevention.

Emery JD, Walter FM, Ravine D.

Med J Aust. 2010 Jun 21;192(12):677-8. No abstract available.

PMID:
20565342
12.

Valproate and risk of fracture in Rett syndrome.

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H.

Arch Dis Child. 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932.

PMID:
20501539
13.

Linking MECP2 and pain sensitivity: the example of Rett syndrome.

Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H.

Am J Med Genet A. 2010 May;152A(5):1197-205. doi: 10.1002/ajmg.a.33314.

14.

Maternal family history of diabetes is associated with a reduced risk of cardiovascular disease in women with type 2 diabetes: the Fremantle Diabetes Study.

Bruce DG, Van Minnen K, Davis WA, Mudhar J, Perret M, Subawickrama DP, Venkitachalam S, Ravine D, Davis TM.

Diabetes Care. 2010 Jul;33(7):1477-83. doi: 10.2337/dc10-0147. Epub 2010 Apr 5.

15.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H.

J Med Genet. 2010 Apr;47(4):242-8. doi: 10.1136/jmg.2009.072553. Epub 2009 Nov 12.

16.

Cells of epithelial lineage are present in blood, engraft the bronchial epithelium, and are increased in human lung transplantation.

May LA, Kicic A, Rigby P, Heel K, Pullen TL, Crook M, Charles A, Banerjee B, Ravine D, Saxena A, Musk M, Stick SM, Chambers DC.

J Heart Lung Transplant. 2009 Jun;28(6):550-7. doi: 10.1016/j.healun.2009.03.013.

PMID:
19481014
17.

Unified criteria for ultrasonographic diagnosis of ADPKD.

Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D.

J Am Soc Nephrol. 2009 Jan;20(1):205-12. doi: 10.1681/ASN.2008050507. Epub 2008 Oct 22.

18.

MECP2 genomic structure and function: insights from ENCODE.

Singh J, Saxena A, Christodoulou J, Ravine D.

Nucleic Acids Res. 2008 Nov;36(19):6035-47. doi: 10.1093/nar/gkn591. Epub 2008 Sep 27. Review.

19.

Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations.

Milward EA, Baines SK, Knuiman MW, Bartholomew HC, Divitini ML, Ravine DG, Bruce DG, Olynyk JK.

Mayo Clin Proc. 2008 May;83(5):543-9. doi: 10.4065/83.5.543.

PMID:
18452683
20.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H.

Neurology. 2008 Mar 11;70(11):868-75. doi: 10.1212/01.wnl.0000304752.50773.ec.

PMID:
18332345
21.

Directions for clinical practice improvement in HFE gene mutation testing.

Gillett MJ, Mamotte CD, Ravine D, Vasikaran SD.

Med J Aust. 2007 Sep 17;187(6):342-4.

PMID:
17874981
22.

The diagnosis of autism in a female: could it be Rett syndrome?

Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H.

Eur J Pediatr. 2008 Jun;167(6):661-9. Epub 2007 Aug 8.

PMID:
17684768
23.

Seizures in Rett syndrome: an overview from a one-year calendar study.

Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H.

Eur J Paediatr Neurol. 2007 Sep;11(5):310-7. Epub 2007 Apr 11.

24.

Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; 2006 Human Variome Project, Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Nat Genet. 2007 Apr;39(4):433-6.

PMID:
17392799
25.

Analysis of published PKD1 gene sequence variants.

Gout AM; ADPKD Gene Variant Consortium, Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San Millan JL, Aguiari G, Del Senno L.

Nat Genet. 2007 Apr;39(4):427-8. Review. No abstract available.

PMID:
17392796
26.
27.

Predictors of seizure onset in Rett syndrome.

Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H.

J Pediatr. 2006 Oct;149(4):542-7.

PMID:
17011329
28.

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A.

J Med Genet. 2007 Feb;44(2):148-52. Epub 2006 Aug 11.

29.

Early progressive encephalopathy in boys and MECP2 mutations.

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK.

Neurology. 2006 Jul 11;67(1):164-6.

PMID:
16832102
30.

Rett syndrome in Australia: a review of the epidemiology.

Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H.

J Pediatr. 2006 Mar;148(3):347-52.

PMID:
16615965
31.

NTNG1 mutations are a rare cause of Rett syndrome.

Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ.

Am J Med Genet A. 2006 Apr 1;140(7):691-4.

32.

Effectiveness of posthumous molecular diagnosis from a kept baby tooth.

Leonard H, Davis MR, Turbett GR, Laing NG, Bower C, Ravine D.

Lancet. 2005 Oct 29-Nov 4;366(9496):1584. No abstract available.

PMID:
16257347
33.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ.

J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.

34.

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.

McCune CA, Ravine D, Carter K, Jackson HA, Hutton D, Hedderich J, Krawczak M, Worwood M.

Gut. 2006 Apr;55(4):554-62. Epub 2005 Sep 20.

35.

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D.

J Med Genet. 2006 Jun;43(6):470-7. Epub 2005 Sep 9.

36.

p.R270X MECP2 mutation and mortality in Rett syndrome.

Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H.

Eur J Hum Genet. 2005 Nov;13(11):1235-8.

37.

Familial hypercholesterolaemia: a look back, a look ahead.

Burnett JR, Ravine D, van Bockxmeer FM, Watts GF.

Med J Aust. 2005 Jun 6;182(11):552-3. No abstract available.

PMID:
15938678
38.

Population based study of late onset cerebellar ataxia in south east Wales.

Muzaimi MB, Thomas J, Palmer-Smith S, Rosser L, Harper PS, Wiles CM, Ravine D, Robertson NP.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1129-34.

39.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

Laccone F, Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D.

Hum Mutat. 2004 Mar;23(3):234-44. Erratum in: Hum Mutat. 2004 Apr;23(4):395.

PMID:
14974082
40.

Large deletions in the polycystic kidney disease 1 (PKD1) gene.

Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ.

Hum Mutat. 2004 Jan;23(1):99.

PMID:
14695542
41.

Screening for hereditary haemochromatosis within families and beyond.

McCune CA, Ravine D, Worwood M, Jackson HA, Evans HM, Hutton D.

Lancet. 2003 Dec 6;362(9399):1897-8.

PMID:
14667749
42.

Review article: breaking new ground with Rett syndrome.

Kerr AM, Ravine D.

J Intellect Disabil Res. 2003 Nov;47(Pt 8):580-7. Review. No abstract available.

PMID:
14641805
43.

Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6.

Muzaimi MB, Wiles CM, Robertson NP, Ravine D, Compston DA.

J Neurol Neurosurg Psychiatry. 2003 Oct;74(10):1444-5. No abstract available.

44.

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y.

J Med Genet. 2003 May;40(5):e52. No abstract available.

45.

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A.

J Med Genet. 2003 May;40(5):380-4. No abstract available.

46.

Discussion of the role of hemochromatosis susceptibility gene mutation in protecting against iron deficiency in celiac disease.

Ravine D, Darke C.

Gastroenterology. 2003 May;124(5):1563-4; author reply 1564. No abstract available.

PMID:
12744240
47.

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2.

Lynch SA, Whatley SD, Ramesh V, Sinha S, Ravine D.

Arch Dis Child Fetal Neonatal Ed. 2003 May;88(3):F250-2.

48.

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.

J Am Soc Nephrol. 2003 May;14(5):1164-74.

49.

Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD.

J Neurol. 2002 Nov;249(11):1515-9.

PMID:
12420090
50.

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales.

Fokstuen S, Myring J, Meredith L, Ravine D, Harper PS.

J Med Genet. 2001 Dec;38(12):E42. No abstract available.

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