PubMed

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH.

Clin Genet. 2009 Mar;75(3):271-6.PMID: 19250384 [PubMed - indexed for MEDLINE]Related articles

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH.

Anim Genet. 2009 Feb;40(1):42-6. Epub 2008 Nov 11.PMID: 19016676 [PubMed - indexed for MEDLINE]Related articles

Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome.

Paluzzi A, Viva LJ, Kalsi P, Mukerji N, Tzerakis N, Patton MA.

Clin Dysmorphol. 2008 Oct;17(4):283-5. No abstract available. PMID: 18978661 [PubMed - indexed for MEDLINE]Related articles

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH.

Cardiology. 2009;113(1):28-34. Epub 2008 Oct 29.PMID: 18957847 [PubMed - indexed for MEDLINE]Related articles

"I was never like that": Australian findings on the psychological and psychiatric sequelae of corticosteroids in haematology treatments.

McGrath P, Patton MA, James S.

Support Care Cancer. 2009 Apr;17(4):339-47. Epub 2008 May 14.PMID: 18478273 [PubMed - indexed for MEDLINE]Related articles

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH.

Heart. 2008 Oct;94(10):1326-30. Epub 2008 May 8.PMID: 18467358 [PubMed - indexed for MEDLINE]Related articles

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.

Neurology. 2008 Jul 22;71(4):248-52. Epub 2008 May 7.PMID: 18463364 [PubMed - indexed for MEDLINE]Related articles

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH.

Am J Hum Genet. 2008 Feb;82(2):510-5. Epub 2008 Jan 18.PMID: 18252231 [PubMed - indexed for MEDLINE]Related articlesFree article

Consanguinity and deafness in Omani children.

Khabori MA, Patton MA.

Int J Audiol. 2008 Jan;47(1):30-3.PMID: 18196484 [PubMed - indexed for MEDLINE]Related articles

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH.

Am J Hum Genet. 2007 Nov;81(5):906-12. Epub 2007 Sep 14.PMID: 17924334 [PubMed - indexed for MEDLINE]Related articlesFree article

The case for Aboriginal Health Workers in palliative care.

McGrath PD, Patton MA, Ogilvie KF, Rayner RD, McGrath ZM, Holewa HA.

Aust Health Rev. 2007 Aug;31(3):430-9.PMID: 17669066 [PubMed - indexed for MEDLINE]Related articles

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Ali BR, Jeffery S, Patel N, Tinworth LE, Meguid N, Patton MA, Afzal AR.

Hum Genet. 2007 Nov;122(3-4):389-95. Epub 2007 Jul 31.PMID: 17665217 [PubMed - indexed for MEDLINE]Related articles

Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.

Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M.

Am J Med Genet A. 2007 Jun 1;143A(11):1249-52. No abstract available. PMID: 17497712 [PubMed - indexed for MEDLINE]Related articles

Further phenotypic and genetic variation in ADULT syndrome.

Reisler TT, Patton MA, Meagher PP.

Am J Med Genet A. 2006 Nov 15;140(22):2495-500.PMID: 17041931 [PubMed - indexed for MEDLINE]Related articles

Insights on Aboriginal peoples' views of cancer in Australia.

McGrath P, Holewa H, Ogilvie K, Rayner R, Patton MA.

Contemp Nurse. 2006 Sep;22(2):240-54.PMID: 17026431 [PubMed - indexed for MEDLINE]Related articles

The natural history of Noonan syndrome: a long-term follow-up study.

Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA.

Arch Dis Child. 2007 Feb;92(2):128-32. Epub 2006 Sep 21.PMID: 16990350 [PubMed - indexed for MEDLINE]Related articles

'It's very difficult to get respite out here at the moment': Australian findings on end-of-life care for Indigenous people.

McGrath P, Patton MA, McGrath Z, Olgivie K, Rayner R, Holewa H.

Health Soc Care Community. 2006 Mar;14(2):147-55.PMID: 16460364 [PubMed - indexed for MEDLINE]Related articles

Differing priorities for medical research funding.

Patton MA.

Arch Dis Child. 2005 Nov;90(11):1101. No abstract available. PMID: 16243856 [PubMed - indexed for MEDLINE]Related articlesFree article

Re-entering life: paediatric acute myeloid leukaemia at one year post treatment.

McGrath P, Suppiah R, Patton MA.

Aust J Holist Nurs. 2005 Oct;12(2):23-34.PMID: 19175261 [PubMed - indexed for MEDLINE]Related articles

Genetic studies in the Amish community.

Patton MA.

Ann Hum Biol. 2005 Mar-Apr;32(2):163-7. Review.PMID: 16096212 [PubMed - indexed for MEDLINE]Related articles

The "right story" to the "right person": communication issues in end-of-life care for Indigenous people.

McGrath P, Ogilvie KF, Rayner RD, Holewa HF, Patton MA.

Aust Health Rev. 2005 Aug;29(3):306-16.PMID: 16053435 [PubMed - indexed for MEDLINE]Related articles

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT.

Neurogenetics. 2005 May;6(2):79-84. Epub 2005 Feb 12.PMID: 15711826 [PubMed - indexed for MEDLINE]Related articles

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S.

J Hum Genet. 2005;50(1):21-5. Epub 2004 Dec 10.PMID: 15690106 [PubMed - indexed for MEDLINE]Related articles

Psychological profile of children with Noonan syndrome.

Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA.

Dev Med Child Neurol. 2005 Jan;47(1):35-8.PMID: 15686287 [PubMed - indexed for MEDLINE]Related articles

Common arterial trunk associated with a homeodomain mutation of NKX2.6.

Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P.

Hum Mol Genet. 2005 Mar 1;14(5):585-93. Epub 2005 Jan 13.PMID: 15649947 [PubMed - indexed for MEDLINE]Related articlesFree article

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH.

Nat Genet. 2004 Nov;36(11):1225-9. Epub 2004 Oct 24.PMID: 15502825 [PubMed - indexed for MEDLINE]Related articles

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH.

J Neurol. 2004 Sep;251(9):1105-10.PMID: 15372254 [PubMed - indexed for MEDLINE]Related articles

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.

Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH.

J Neurol. 2004 Sep;251(9):1068-74.PMID: 15372247 [PubMed - indexed for MEDLINE]Related articles

A suspected case of Abruzzo-Erickson syndrome.

Kidner G, Taylor J, Patton MA, Taylor N.

Cleft Palate Craniofac J. 2004 Sep;41(5):565-7.PMID: 15352866 [PubMed - indexed for MEDLINE]Related articles

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD.

Am J Hum Genet. 2004 Sep;75(3):492-7. Epub 2004 Jul 9.PMID: 15248152 [PubMed - indexed for MEDLINE]Related articlesFree article

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.

Josifova DJ, Patton MA, Marks K.

Clin Dysmorphol. 2004 Jul;13(3):151-3.PMID: 15194950 [PubMed - indexed for MEDLINE]Related articles

Development and use of a national haemoglobinopathy register in Oman.

Rajab A, Patton MA.

Community Genet. 1999;2(1):47-8. No abstract available. PMID: 15178963 [PubMed]Related articles

Analysis of the population structure in Oman.

Rajab A, Patton MA.

Community Genet. 1999;2(1):23-5.PMID: 15178958 [PubMed]Related articles

3D analysis of facial morphology.

Hammond P, Hutton TJ, Allanson JE, Campbell LE, Hennekam RC, Holden S, Patton MA, Shaw A, Temple IK, Trotter M, Murphy KC, Winter RM.

Am J Med Genet A. 2004 May 1;126A(4):339-48.PMID: 15098232 [PubMed - indexed for MEDLINE]Related articles

TBX22 mutations are a frequent cause of cleft palate.

Marçano AC, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P.

J Med Genet. 2004 Jan;41(1):68-74. No abstract available. PMID: 14729838 [PubMed - indexed for MEDLINE]Related articlesFree article

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH.

Am J Hum Genet. 2003 Nov;73(5):1147-56. Epub 2003 Oct 16.PMID: 14564668 [PubMed - indexed for MEDLINE]Related articlesFree article

Training residents in emergency medicine. New educational resource manuals offer national guidelines for family medicine residents.

Steiner IP, Patton MA, Mackey DS.

Can Fam Physician. 2003 Jun;49:786. No abstract available. PMID: 12836868 [PubMed - indexed for MEDLINE]Related articlesFree article

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C.

Am J Med Genet A. 2003 May 15;119A(1):1-8.PMID: 12707950 [PubMed - indexed for MEDLINE]Related articles

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.

Genomics. 2003 Apr;81(4):437-41.PMID: 12676568 [PubMed - indexed for MEDLINE]Related articles

Useful information about rare inherited disorders.

Patton MA.

BMJ. 2003 Mar 22;326(7390):612-3. No abstract available. PMID: 12649213 [PubMed - indexed for MEDLINE]Related articlesFree article

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH.

Hum Mutat. 2003 Feb;21(2):170.PMID: 12552568 [PubMed - indexed for MEDLINE]Related articles

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.

Hum Genet. 2002 Oct;111(4-5):421-7. Epub 2002 Aug 24. Review.PMID: 12384786 [PubMed - indexed for MEDLINE]Related articles

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S.

Hum Mol Genet. 2002 Oct 15;11(22):2793-804.PMID: 12374769 [PubMed - indexed for MEDLINE]Related articlesFree article

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.

Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22.PMID: 12134148 [PubMed - indexed for MEDLINE]Related articles

Genetic predisposition and sensorineural hearing loss following bacterial meningitis: is there a link?

Jayarajan V, Patton MA, Rajenderkumar D.

J Infect. 2002 Apr;44(3):210. No abstract available. PMID: 12099760 [PubMed - indexed for MEDLINE]Related articles

Growth hormone therapy in Noonan's syndrome: non-cardiomyopathic congenital heart disease does not adversely affect growth improvement.

Brown DC, Macfarlane CE, McKenna WJ, Patton MA, Dunger DB, Savage MO, Kelnar CJ.

J Pediatr Endocrinol Metab. 2002 Jun;15(6):851-2.PMID: 12099396 [PubMed - indexed for MEDLINE]Related articles

Robinow syndrome.

Patton MA, Afzal AR.

J Med Genet. 2002 May;39(5):305-10. Review.PMID: 12011143 [PubMed - indexed for MEDLINE]Related articlesFree article

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.

Am J Hum Genet. 2002 Jun;70(6):1555-63. Epub 2002 May 1.PMID: 11992261 [PubMed - indexed for MEDLINE]Related articlesFree article

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

Bell R, Murday VA, Patton MA, Jeffery S.

Genet Test. 2001 Winter;5(4):335-8.PMID: 11960581 [PubMed - indexed for MEDLINE]Related articles

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD.

Nat Genet. 2001 Dec;29(4):465-8. Erratum in: Nat Genet 2001 Dec;29(4):491. Nat Genet 2002 Jan;30(1):123. PMID: 11704759 [PubMed - indexed for MEDLINE]Related articles