PubMed

Surveillance of working conditions and the work environment: development of a national hazard surveillance tool in New Zealand.

Lilley R, Feyer AM, Firth H, Cunningham C, Paul C.

Int J Public Health. 2009 Jul 28. [Epub ahead of print]PMID: 19636510 [PubMed - as supplied by publisher]Related articles

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A.

Eur J Hum Genet. 2009 Dec;17(12):1592-9. Epub 2009 May 27.PMID: 19471318 [PubMed - in process]Related articles

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP.

Am J Hum Genet. 2009 Apr;84(4):524-33. Epub 2009 Apr 2.PMID: 19344873 [PubMed - indexed for MEDLINE]Related articlesFree article

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. Epub 2009 Jan 6.PMID: 19126570 [PubMed - in process]Related articles

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. Epub 2008 Sep 10.PMID: 18784092 [PubMed - indexed for MEDLINE]Related articlesFree article

Syndromic associations with congenital anomalies of the fetal thorax and abdomen.

Hurst J, Firth HV, Chitty LS.

Prenat Diagn. 2008 Jul;28(7):676-84. Review.PMID: 18634120 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

J Med Genet. 2008 Nov;45(11):710-20. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576. PMID: 18628315 [PubMed - indexed for MEDLINE]Related articles

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK.

Nat Genet. 2008 Aug;40(8):949-51. Epub 2008 Jul 11.PMID: 18622393 [PubMed - indexed for MEDLINE]Related articles

Cancer mortality by occupation among New Zealand women: 1988-1997.

Firth H, Gray A, Carpenter LM, Cox B.

N Z Med J. 2007 Nov 30;120(1266):U2833.PMID: 18264202 [PubMed - indexed for MEDLINE]Related articles

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.

Park SM, Hall CM, Gray R, Firth HV.

Am J Med Genet A. 2007 Sep 1;143A(17):2024-8.PMID: 17676604 [PubMed - indexed for MEDLINE]Related articles

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O.

Eur J Hum Genet. 2007 Nov;15(11):1105-14. Epub 2007 Jul 18. Review.PMID: 17637806 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.

J Med Genet. 2007 Sep;44(9):556-61. Epub 2007 Jun 1.PMID: 17545556 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.

Holden S, Ahuja S, Ogilvy-Stuart A, Firth HV, Lees C.

Prenat Diagn. 2007 Jun;27(6):566-7.PMID: 17385787 [PubMed - indexed for MEDLINE]Related articles

Chemical exposure among NZ farmers.

Firth HM, Rothstein DS, Herbison GP, McBride DI.

Int J Environ Health Res. 2007 Feb;17(1):33-43.PMID: 17365078 [PubMed - indexed for MEDLINE]Related articles

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.PMID: 17041942 [PubMed - indexed for MEDLINE]Related articles

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.

Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.PMID: 16906163 [PubMed - indexed for MEDLINE]Related articles

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP.

J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26.PMID: 16801345 [PubMed - indexed for MEDLINE]Related articles

Dust and noise exposures among farmers in Southland,New Zealand.

Firth H, Herbison P, Mc Bride D.

Int J Environ Health Res. 2006 Apr;16(2):155-61.PMID: 16546808 [PubMed - indexed for MEDLINE]Related articles

Obtaining health information from farmers: interviews versus postal questionnaires in a New Zealand case study.

Morgaine KC, Firth HM, Herbison GP, Feyer AM, McBride DI.

Ann Agric Environ Med. 2005;12(2):223-8.PMID: 16457477 [PubMed - indexed for MEDLINE]Related articlesFree article

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H.

Am J Hum Genet. 2006 Feb;78(2):265-78. Epub 2005 Dec 29. Erratum in: Am J Hum Genet. 2006 May;78(5):897. PMID: 16385466 [PubMed - indexed for MEDLINE]Related articlesFree article

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, Croci GF, Magnani C, Banchini G, Clayton-Smith J, Bocian M, Firth H, Gold JA, Hurst J.

Genet Couns. 2005;16(2):117-28.PMID: 16080291 [PubMed - indexed for MEDLINE]Related articles

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.PMID: 16053902 [PubMed - indexed for MEDLINE]Related articles

Skeletal dysplasias.

Hurst JA, Firth HV, Smithson S.

Semin Fetal Neonatal Med. 2005 Jun;10(3):233-41. Review.PMID: 15878700 [PubMed - indexed for MEDLINE]Related articles

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Borg I, Freude K, Kübart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM.

Eur J Hum Genet. 2005 Aug;13(8):921-7.PMID: 15870826 [PubMed - indexed for MEDLINE]Related articlesFree article

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration.

J Med Genet. 2005 Apr;42(4):307-13.PMID: 15805156 [PubMed - indexed for MEDLINE]Related articlesFree article

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE.

Am J Hum Genet. 2005 May;76(5):865-76. Epub 2005 Mar 30.PMID: 15800846 [PubMed - indexed for MEDLINE]Related articlesFree article

Fetal cardiac anomalies and genetic syndromes.

Pajkrt E, Weisz B, Firth HV, Chitty LS.

Prenat Diagn. 2004 Dec 30;24(13):1104-15. Review.PMID: 15614851 [PubMed - indexed for MEDLINE]Related articles

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S.

Am J Med Genet A. 2005 Jan 1;132A(1):1-7.PMID: 15558842 [PubMed - indexed for MEDLINE]Related articles

Norrie disease and peripheral venous insufficiency.

Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT.

Br J Ophthalmol. 2004 Nov;88(11):1475. No abstract available. Erratum in: Br J Ophthalmol. 2005 May;89(5):645. PMID: 15489496 [PubMed - indexed for MEDLINE]Related articlesFree article

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Méhes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N.

Nat Genet. 2004 Nov;36(11):1159-61. Epub 2004 Oct 10.PMID: 15475955 [PubMed - indexed for MEDLINE]Related articles

Assessing individual employee risk factors for occupational asthma in primary aluminium smelting.

Barnard CG, McBride DI, Firth HM, Herbison GP.

Occup Environ Med. 2004 Jul;61(7):604-8.PMID: 15208376 [PubMed - indexed for MEDLINE]Related articlesFree article

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP.

J Med Genet. 2004 Apr;41(4):241-8.PMID: 15060094 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH.

Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.PMID: 14991055 [PubMed - indexed for MEDLINE]Related articles

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene.

Okubo Y, Siddle K, Firth H, O'Rahilly S, Wilson LC, Willatt L, Fukushima T, Takahashi S, Petry CJ, Saukkonen T, Stanhope R, Dunger DB.

J Clin Endocrinol Metab. 2003 Dec;88(12):5981-8.PMID: 14671200 [PubMed - indexed for MEDLINE]Related articlesFree article

Noise exposure and hearing loss in agriculture: a survey of farmers and farm workers in the Southland region of New Zealand.

McBride DI, Firth HM, Herbison GP.

J Occup Environ Med. 2003 Dec;45(12):1281-8.PMID: 14665814 [PubMed - indexed for MEDLINE]Related articles

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA.

Hum Mol Genet. 2003 Sep 15;12(18):2269-76. Epub 2003 Jul 22.PMID: 12915484 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of SATB2 as the cleft palate gene on 2q32-q33.

FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT.

Hum Mol Genet. 2003 Oct 1;12(19):2491-501. Epub 2003 Jul 29.PMID: 12915443 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital abnormalities of the central nervous system.

Verity C, Firth H, ffrench-Constant C.

J Neurol Neurosurg Psychiatry. 2003 Mar;74 Suppl 1:i3-8. Review. No abstract available. PMID: 12611928 [PubMed - indexed for MEDLINE]Related articlesFree article

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P.

J Med Genet. 2002 Aug;39(8):589-93. No abstract available. PMID: 12161601 [PubMed - indexed for MEDLINE]Related articlesFree article

Health of farmers in southland: an overview.

Firth H, Herbison P, McBride D, Feyer AM.

N Z Med J. 2001 Sep 28;114(1140):426-8.PMID: 11700751 [PubMed - indexed for MEDLINE]Related articles

Psychopathology of sexual abuse in young people with intellectual disability.

Firth H, Balogh R, Berney T, Bretherton K, Graham S, Whibley S.

J Intellect Disabil Res. 2001 Jun;45(Pt 3):244-52.PMID: 11422649 [PubMed - indexed for MEDLINE]Related articles

Sexual abuse in children and adolescents with intellectual disability.

Balogh R, Bretherton K, Whibley S, Berney T, Graham S, Richold P, Worsley C, Firth H.

J Intellect Disabil Res. 2001 Jun;45(Pt 3):194-201.PMID: 11422643 [PubMed - indexed for MEDLINE]Related articles

Assessment of parents' concerns and evaluation of outcomes.

Firth H, Grimes A, Poppleton H, Hall R, Richold P.

J Public Health Med. 2000 Dec;22(4):473-8.PMID: 11192274 [PubMed - indexed for MEDLINE]Related articlesFree article

A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly.

Baralle D, Firth H.

Clin Dysmorphol. 2000 Jul;9(3):209-11.PMID: 10955483 [PubMed - indexed for MEDLINE]Related articles

Molecular analysis of eight mutations in FBN1.

Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA.

Hum Genet. 1999 Dec;105(6):587-97.PMID: 10647894 [PubMed - indexed for MEDLINE]Related articles

Craniomicromelic syndrome: report of a third case.

Baralle D, Firth H.

Am J Med Genet. 1999 Dec 3;87(4):360-1. No abstract available. PMID: 10588845 [PubMed - indexed for MEDLINE]Related articles

Historical cohort study of a New Zealand foundry and heavy engineering plant.

Firth HM, Elwood JM, Cox B, Herbison GP.

Occup Environ Med. 1999 Feb;56(2):134-8.PMID: 10448319 [PubMed - indexed for MEDLINE]Related articlesFree article

Client satisfaction with the New Zealand National Poisons Information Service.

Cameron S, Cheu B, Green J, Nicholson C, Smith K, Sundakov V, Tee A, Tie S, Firth H, Williams S.

Vet Hum Toxicol. 1998 Jun;40(3):163-5.PMID: 9610497 [PubMed - indexed for MEDLINE]Related articles

Chorion villus sampling and limb deficiency--cause or coincidence?

Firth H.

Prenat Diagn. 1997 Dec;17(13):1313-30. Review.PMID: 9509548 [PubMed - indexed for MEDLINE]Related articles

Needle stick injuries in country general practice.

Lum D, Mason Z, Meyer-Rochow G, Neveldsen GB, Siriwardena M, Turner P, Firth H.

N Z Med J. 1997 Apr 11;110(1041):122-5.PMID: 9140413 [PubMed - indexed for MEDLINE]Related articles