Browsing by Author Haan, Eric

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Showing results 1 to 12 of 12
Issue DateTitleAuthor(s)Citation
2006Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceBalleine, Rosemary; Butow, Phyllis; Clarke, Christine; Kirk, Judy; Leary, Jennifer; Mann, Graham; Pupo, Gulietta; Chenevix-Trench, Georgia; Edkins, Edward; Evans, Gerda M.; Fereday, Sian; Gattas, Michael; Giles, Graham; Goldblatt, Jack; Haan, Eric; Hopper, John; Lindeman, Geoffrey J; Niedermayr, Eveline; Phillips, Kelly-Anne; Picken, Sandra; Saunders, Christobel; Scott, Clare L; Spurdle, Amanda B.; Suthers, Graeme; The Kathleen Cuningham Consortium for Research in Familial Breast Cancer, kConFab; Thorne, Heather; Tucker, Katherine M.; Western Clinical School: Medicine (Westmead); Psychology; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead)Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource, Breast Cancer Research, vol.8,(1),2006,pp N/A-N/A
2013C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsLoy, Clement; Sue, Carolyn; Campdelacreu, Jaume; Dobson-Stone, Carol; et al, Various; Gascon, Jordi; Haan, Eric; Hallupp, Marianne; Panegyres, Peter; Razquin, Cristina; Rene, Ramon; Seijo-Martinez, Manuel; Thompson, Elizabeth; School of Public Health: Public Health; Northern Clinical School: MedicineC9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients, PLoS One, vol.8, 2, 2013,pp 1-6
2006Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians' knowledge, attitudes and practice.Elliott, Elizabeth; Bower, Carol; Haan, Eric; Payne, Jan; Children's Hospital Westmead: Paediatrics & Child HealthDiagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians' knowledge, attitudes and practice., Journal of Paediatrics and Child Health 2005, vol.42,(11),2006,pp 698-703
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.Christodoulou, John; Al Raisi, Zahyia; Bayly, Marta; Berkovic, Samuel F.; Brown, Natasha; Desai, Tarishi; Dibbens, Leanne; et al, various; Haan, Eric; Hynes, Kim; Smith, Raffaella; Tarpey, Patrick; Turner, Samantha; Children's Hospital Westmead: Paediatrics & Child HealthEpilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families., Journal of Medical Genetics, vol.47, 3,pp 211-216
2006FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.Ades, Lesley; Bennetts, Bruce; Biggin, Andrew; Brett, M; Holman, K; Sullivan, K; Dixon, J; Haan, Eric; Holmes, A. D.; Robertson, Stephen P.; Rogers, J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead)FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited., American journal of medical genetics Part A, vol.140,(10),2006,pp 1047-1058
2007Fetal alcohol syndrome: a prospective national surveillance studyElliott, Elizabeth; Morris, Anne; Bower, Carol; Haan, Eric; Payne, Janet M; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthFetal alcohol syndrome: a prospective national surveillance study, Archives of Disease in Childhood, vol.doi:10.1136/adc.2007.120220,(N/A),2007,pp N/A-N/A
2013Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsCollins, Felicity; Wilson, Meredith; Colley, Alison; Cox, Timothy; Elakis, George; et al, Various; Gabbett, Michael; Haan, Eric; Hackett, Emma; Kirk, Edwin; Le, Trang; Moon, David; Mowat, David; Roscioli, Tony; Sachdev, Rani; Thompson, Elizabeth; Turner, Anne Marie; Venselaar, Hanka; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGenotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol.163, 4, 2013,pp 259-270
2005Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancy.Elliott, Elizabeth; Bower, Carolyn; D'Antoine, Heather; Haan, Eric; Mahony, Anne; O'Leary, Colleen; Payne, Jan; Children's Hospital Westmead: Paediatrics & Child HealthHealth professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancy., Australian and New Zealand Journal of Public Health, vol.29,(6),2005,pp 558-564
2013NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsyDale, Russell; Ouvrier, Robert; Gardner, Alison; Gecz, Jozef; Haan, Eric; MacLennan, A; McMichael, G.; Thompson, Suzanna; Yap, Tzu Ying; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthNKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy, European Journal of Medical Genetics, vol.56, 9, 2013,pp 506-509
2016A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaBagnall, Richard; Gray, Belinda; Ingles, Jodie; Lam, Lien; Semsarian, Chris; Sy, Raymond; Clancy, Colleen E; Davis, Andrew; Haan, Eric; Turner, Christian; Yang, Pei-Chi; Central Clinical School: Medicine; Central Clinical School: Medicine; Central Clinical School: Centenary Institute; Central Clinical School: Office; Central Clinical School: Centenary Institute; Concord Clinical School: MedicineA novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia, Heart Rhythm, vol.13, 8, 2016,pp 1652-1660
2016A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaBagnall, Richard; Gray, Belinda; Ingles, Jodie; Lam, Lien; Semsarian, Chris; Sy, Raymond; Clancy, Colleen E; Davis, Andrew; Haan, Eric; Turner, Christian; Yang, Pei-Chi; Central Clinical School: Medicine; Central Clinical School: Medicine; Central Clinical School: Centenary Institute; Central Clinical School: Office; Central Clinical School: Centenary Institute; Concord Clinical School: MedicineA novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia, Heart Rhythm, vol.13, 8, 2016,pp 1652-1660
2011TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesAlcausin, Melanie; Sillence, David; Aftimos, Salim; Andreucci, Elena; Haan, Eric; Hunter, Warwick; Kannu, Peter; Kerr, Bronwyn; Lamande, Shireen R.; McGillivray, G; McKinlay Gardner, R J; Patricelli, Maria; Savarirayan, Ravi; Thompson, Elizabeth M.; Zacharin, Margaret R.; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families, Orphanet Journal of Rare Diseases, vol.6, 1, 2011,pp Article number 37-1-Article number 37-8