Browsing by Author Collins, Felicity

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Issue DateTitleAuthor(s)Citation
201314q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeChristodoulou, John; Collins, Felicity; Ellaway, Carolyn; Ho, Gladys; Peters, Gregory; Bettella, Elise; Darmanian, Artur; Fagan, Kerry; Hackett, A; Knapman, Alisa; McKenzie, Fiona; 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 Health14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype, European Journal of Human Genetics, vol.21, 5, 2013,pp 522-527
2016Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrumCollins, Felicity; Al-Sinani, Siham; Chopra, Maya; Cimbalistiene, Loreta; et al, Various; Haghighi, Alireza; Haghighi, Amirreza; Kavehmanesh, Zohreh M D; Salehzadeh, Farhad; Santos-Simmaro, Fernando; Van Maldergem, Lionel; Childrens Hospital Westmead: Paediatrics & Child HealthCongenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum, Clinical Genetics, vol.89, 4, 2016,pp 434-441
2012Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityCollins, Felicity; Alanay, Yasemin; Bijlsma, Emilia; Cho, Tae-Joon; Cole, Trevor; Daniel, Philip; David, Albert; Devriendt, Koen; et al, various; Faivre, Laurence; Ikegawa, Shiro; Jacquemont, Sebastien; Jesic, Milos; Krakow, Debbie; Liebrecht, Daniela; Maitz, Silvia; Marlin, Sandrine; Morgan, Timothy; Morin, Gilles; Nishikubo, Toshiya; Nishimura, Gen; Prescott, Trine; Scarano, Gioacchino; Shafeghati, Yousef; Skovby, Flemming; Children's Hospital Westmead: Paediatrics & Child HealthDisease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity, Human Mutation, vol.33, 4, 2012,pp 665-673
2008Early diagnosis of Fibrodysplasia Ossificans ProgressivaSillence, David; Collins, Felicity; Connor, Michael; Ganguly, Arupa; Glaser, David L; Kaplan, Frederick S; Kitterman, Joseph; Ravitsky, Vardit; Shore, Eileen M; Xu, Meiqi; Zackai, Elaine; Zasloff, Michael; Children's Hospital Westmead: Paediatrics & Child HealthEarly diagnosis of Fibrodysplasia Ossificans Progressiva, Pediatrics, vol.121,(5),2008,pp e1295-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
2012Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase DeficiencyCollins, Felicity; Dhir, Vivek; et al, Various; Hughes, Beverly; Idkowiak, Jan; Ivison, Hannah; Krone, Nils; O'Neil, Donna; Reisch, Nicole; Rose, Ian; Smith, Matthew; Vijzelaar, Raymon; Children's Hospital Westmead: Paediatrics & Child HealthGenotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency, Journal of Clinical Endocrinology and Metabolism, vol.97, 2, 2012,pp E257-E267
2017Growth charts for Australian children with achondroplasiaBurton, Karen; Collins, Felicity; Das, Sandeep; Tofts, Louise; Western Clinical School: Westmead Institute for Medical Res; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthGrowth charts for Australian children with achondroplasia, American Journal of Medical Genetics, Part A, vol.173A, 8, 2017,pp 2189-2200
2015Joint hypermobility syndrome: A review for cliniciansCollins, Felicity; Tofts, Louise; Pacey, V; Singh-Grewal, Davinder; Wesley, Alison; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthJoint hypermobility syndrome: A review for clinicians, Journal of Paediatrics and Child Health, vol.51, 4, 2015,pp 373-380
2012Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 MutationsCollins, Felicity; Bigot, Karine; Bizet, Albane; Delphin, Nathalie; et al, various; Filhol, Emilie; Gerber, Sylvie; Hanein, Slvein; Perrault, Isabelle; Salih, Mustafa; Saunier, Sophie; Children's Hospital Westmead: Paediatrics & Child HealthMainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations, American Journal of Human Genetics, vol.90, 5, 2012,pp 864-870
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
2011Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumCollins, Felicity; Baujat, Genevieve; Cavalcanti, Denise; Cormier-Daire, Valerie; Dagoneau, Nathalie; Delezoide, Anee-Lise; Huber, Celine; Le Merrer, Martine; Martinovic, Jelena; Mello, Marcos Fernando S; Munnich, Arnold; Sang, Kim-Hanh Le Quan; Vekemans, Michel; Children's Hospital Westmead: Paediatrics & Child HealthMutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum, Journal of Medical Genetics: an international peer-reviewed journal for health professionals and researchers in all areas of genetics, vol.48, 2, 2011,pp 88-92
2017NAD deficiency, congenital malformations, and niacin supplementationCollins, Felicity; Enriquez, Annabelle; Sillence, David; Smith, Janine Margo; Winlaw, David; et al, Various; Hughes, James; Ip, Eddie; Lim, Chai K; Martin, Ella; Moreau, Julie; Rapadas, M; Shi, Hongjun; Sugimoto, Kotaro; Szot, Justin O.; Wang, Roni; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child HealthNAD deficiency, congenital malformations, and niacin supplementation, New England Journal of Medicine, vol.377, 6, 2017,pp 544-552
2012NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesCollins, Felicity; Aziza, Jacqueline; Baujat, Genevieve; Bouvier, Raymonde; Cavalcanti, Denise; Cordier, Marie-Pierre; Cormier-Daire, Valerie; Couve, Adeline; Delezoide, Anee-Lise; Gonzales, Marie; Hokayem, Joyce; Huber, Celine; Johnson, Diana; LeMerrer, Martine; Levy-Mozziconacci, Annie; Loget, Philippe; Martin-Coignard, Dominique; Martinovic, Jelena; Mortier, Geert; Munnich, Arnold; Perez, Marie-Jose; Roume, Joelle; Scarano, Gioacchino; Children's Hospital Westmead: Paediatrics & Child HealthNEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases, Journal of Medical Genetics, vol.49, 4, 2012,pp 227-233
2011Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase DeficiencyCollins, Felicity; Arlt, Wiebke; Dattani, Mehul; Graul-Neumann, Luitgard Margarete; Idkowiak, Jan; Kerstens, Michiel N.; Kohler, Birgit; Krone, Nils; Maiter, Dominique; Malunowicz, Ewa M.; O'Riordan, Stephen; Reisch, Nicole; Shackleton, Cedric H. L.; Szarras-Czapnik, Maria; Children's Hospital Westmead: Paediatrics & Child HealthPubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency, Journal of Clinical Endocrinology and Metabolism, vol.96, 3, 2011,pp E453-E462
2013RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous MalformationCollins, Felicity; Amor, David; Baselga, Eulalia; Boon, Laurence M.; Clapuyt, Philippe; Cordisco, Maria Rosa; Dompmartin, Anne; Dubois, Josee; et al, Various; Hammer, Frank; Irvine, Alan; Mendola, Antonella; Revencu, Nicole; Children's Hospital Westmead: Paediatrics & Child HealthRASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation, Human Mutation, vol.34, 12, 2013,pp 1632-1641
2013Update on the investigation of children with delayed developmentCollins, Felicity; Ellaway, Carolyn; Silove, Natalie; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthUpdate on the investigation of children with delayed development, Journal of Paediatrics and Child Health, vol.49, 7, 2013,pp 519-525