Browsing by Author Berman, Yemima

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
2015Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experienceBarlow-Stewart, Kristine; Berman, Yemima; Burnett, Leslie; Aizenberg, Harry; Bankier, Agnes; Delatycki, Martin B.; Field, Michael; Fietz, Michael J.; Fleischer, Ronald; Lew, Raelia; Proos, A; Northern Clinical School: Medicine; Northern Clinical School: Medicine; MedicineAshkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience, Journal of Paediatrics and Child Health, vol.51, 3, 2015,pp 271-279
2011The effect of α-actinin-3 deficiency on muscle agingBerman, Yemima; MacArthur, Daniel; North, Kathryn; Quinlan (nee Edwards), Kate; Seto, Jane; Yang, Nan; Chan, Stephen; Cooney, Gregory; Head, Stewart I.; Raftery, Joanna M; Turner, Nigel; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe effect of α-actinin-3 deficiency on muscle aging, Experimental Gerontology, vol.46, 4, 2011,pp 292-302
2017Exploring the relationship between (alpha)-actinin-3 deficiency and obesity in mice and humansBerman, Yemima; Cooney, Gregory; Lek, Monkol; Houwelling, P; MacArthur, Daniel; North, Kathryn N.; Quinlan, Kate; Seto, Jane T; Turner, Nigel; Yang, Nan; Childrens Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: School of Medical Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthExploring the relationship between (alpha)-actinin-3 deficiency and obesity in mice and humans, International Journal of Obesity, vol.41, 7, 2017,pp 1154-1157
2010A Gene for Speed: The Emerging Role of {alpha}-Actinin-3 in Muscle MetabolismBerman, Yemima; North, Kathryn; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA Gene for Speed: The Emerging Role of {alpha}-Actinin-3 in Muscle Metabolism, Physiology, vol.25, 4,pp 250-259
2015The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian AdultsBarton, Belinda; Berman, Yemima; Crawford, Hilda; Wilson, Meredith; McKelvey-Martin, Valerie; Morrison, Patrick J.; North, Kathryn; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults, Journal of Genetic Counseling, vol.24, 6, 2015,pp 931-944
2007Location and type of mutation in the LIS1 gene do not predict phenotypic severityAdes, Lesley; Berman, Yemima; Dey, L; et, al; Gross, C; Klapecki, J; Korenke, G; Martin, P; Morris-Rosendahl, D J; Schreyer, I; Spranger, S; Stiegler, J; Uyanik, G; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthLocation and type of mutation in the LIS1 gene do not predict phenotypic severity, NEUROLOGY 2005, vol.69,(5),2007,pp 442-447
2007Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humansBerman, Yemima; Gunning, Peter; Hardeman, Edna; MacArthur, Daniel; North, Kathryn; Quinlan, Kate; Raftery, Joanna; Seto, Jane; Yang, Nan; Easteal, S; Edwards, Michael R; Hook, J; Huttley, Gavin; Kee, Anthony J.; Lemckert, Frances A.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsLoss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans, Nature Genetics, vol.39,(10),2007,pp 1261-1265
2005Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.Alexander, Stephen; Berman, Yemima; Collins, Felicity; Fletcher, Jeffery; Grigg, John; Hu, Min; McIver, Margot; Juppner, Harald; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Childrens Medical Research Ins; School of Rural Health: MedicineMulticystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2., Journal of the American Society of Nephrology, vol.16,(9),2005,pp 2754-2761
2007Nanophthalmos in a Melanesian populationAdes, Lesley; Martin, Frank; Mitchell, Ronald (Paul); Berman, Yemima; Missotte, Isabelle; Saglibene, Helene; Smith, James; Tay, Tien; Taylor, Dave; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Millennium InstituteNanophthalmos in a Melanesian population, Clinical and Experimental Ophthalmology, vol.35,(4),2007,pp 348-354
2016Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve careBarton, Belinda; Berman, Yemima; Crawford, Hilda; Wilson, Meredith; McKelvey-Martin, Valerie; Morrison, Patrick J; North, Kathryn N.; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care, Clinical Genetics, vol.89, 3, 2016,pp 385-391
2011α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseBerman, Yemima; Hogart, Marshall; Houweling, Peter; Lek, Monkol; Little, David; North, Kathryn; Quinlan (nee Edwards), Kate; Schindeler, Aaron; Seto, Jane; Yang, Nan; Balasuriya, Dominic; Center, Jacqueline R.; Eisman, John A.; MacArthur, Daniel G.; McDonald, Michelle; Morse, Alyson; Nguyen, Tuan V.; Prince, Richard L.; Raftery, Joanna M; Wilson, Scott G; Zhu, Kathy; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; REPROGEN; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Healthα-Actinin-3 deficiency is associated with reduced bone mass in human and mouse, Bone, vol.49, 4, 2011,pp 790-798