Browsing by Author Ades, Lesley

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Issue DateTitleAuthor(s)Citation
2010Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiencyAdes, Lesley; Baspinar, Osman; Callewaert, B; Coucke, P.; Dasouki, Majed; De Paepe, Anne; Dietz, Harry C; Earing, Michael; Holm, Tammy; Hoyer, Juliane; Loeys, B; Pickart, Angela; Rauch, Anita; Renard, Marjolijn; Sakai, Lynn; Trapane, Pamela; Veith, Regan; Children's Hospital Westmead: Paediatrics & Child HealthAltered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency, European Journal of Human Genetics, vol.18, 8,pp 895-901
2011Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum DisorderAdes, Lesley; Chiang, Colby; et al, various; Gastier-Foster, Julie; Kathiresan, Sekar; Mullegama, Sureni; Repnikova, Elena; Rosenfeld, Jill; Ruderfer, Douglas; Shen, Yiping; Talkowski, Michael; Thrush, Devon; van Bon, Bregje WM; Children's Hospital Westmead: Paediatrics & Child HealthAssessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder, American Journal of Human Genetics, vol.89, N/A, 2011,pp 551-563
2017Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeAdes, Lesley; Sillence, David; Addor, Marie-Claude; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; Daniel, Philip; et al, Various; Jenkins, Z; Morgan, Tim; Wade, Emma M; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAutosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype, American Journal of Medical Genetics, Part A, vol.173, 7, 2017,pp 1739-1746
2010Cardiovascular manifestations in men and women carrying a FBN1 mutationAdes, Lesley; Arbustini, E; Arslan-Kirchner, M.; Binquet, C; Child, Anne; Collod-Beroud, Gwenaelle; Detaint, Delphine; et al, various; Faivre, Laurence; Gautier, E; Loeys, B; Mayer, K; Stheneur, C.; Children's Hospital Westmead: Paediatrics & Child HealthCardiovascular manifestations in men and women carrying a FBN1 mutation, European Heart Journal (English Edition), vol.31, 18,pp 2223-2229
2008Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsAdes, Lesley; Arbustini, E; Arslan-Kirchner, M.; Beroud, C.; Binquet, C; Boileau, C.; Bonithon-Kopp, C.; Callewaert, B; Child,, A; Claustres, M.; Collod-Beroud, G; Comeglio, Paolo; Coucke, P.; De Backer, J.; De Paepe, Anne; Faivre, L; Francke, U.; Gautier, E; Halliday, D.; Jondeau, G.; Kiotsekoglou, A.; Loeys, B; Marziliano, N; Mayer, K; Plauchu, H.; Robinson, P. N.; Stheneur, C.; Children's Hospital Westmead: Paediatrics & Child HealthContribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands, Journal of Medical Genetics, vol.45, 6, 2008,pp 384-390
2004Detection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy.Ades, Lesley; Bennetts, Bruce; Biggin, Andrew; Brett, Maggie S.; Holman, Katerine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDetection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy., Human Mutation, vol.23,(1),2004,pp 99-106
2004Ectopia Lentis Phenotypes And The Fbn1 GeneAdes, Lesley; Bennetts, Bruce; Brett, Maggie S.; Edwards, Matthew J.; Holman, Katherine J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEctopia Lentis Phenotypes And The Fbn1 Gene, American journal of medical genetics Part A, vol.126A,(3),2004,pp 284-289
2007Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International StudyAdes, Lesley; Arbustini, E; Binquet, C; Callewaert, B; Child, Anne; Collod-Beroud, G; et, al; Faivre, L; Gautier, E; Loeys, B; Mayer, K; Children's Hospital Westmead: Paediatrics & Child HealthEffect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study, American Journal of Human Genetics, vol.81,(3),2007,pp 454-466
2004Enamel Defects And Lyonization In Focal Dermal Hypoplasia.Ades, Lesley; Aldred, Michael J; Balmer, Richard; Cameron, Angus C; Children's Hospital Westmead: Paediatrics & Child HealthEnamel Defects And Lyonization In Focal Dermal Hypoplasia., Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology, vol.98,(6),2004,pp 686-691
2013Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutationsAdes, Lesley; Alders, Mariëlle; Al-Gazali, Lihadh I.; Bellini, Carlo; Dallapiccola, Bruno; Edery, Patrick; et al, Various; Frank, Ulrich; Hornshuh, F; Huisman, Sylvia A; Jagadeesh, S; Mendola, Antonella; Children's Hospital Westmead: Paediatrics & Child HealthEvaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations, Molecular Syndromology, vol.4, 3, 2013,pp 107-113
2013Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutationsAdes, Lesley; Alders, Mariëlle; Al-Gazali, Lihadh I.; Bellini, Carlo; Dallapiccola, Bruno; Edery, Patrick; et al, Various; Frank, Ulrich; Hornshuh, F; Huisman, Sylvia A; Jagadeesh, S; Mendola, Antonella; Childrens Hospital Westmead: Paediatrics & Child HealthEvaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations, Molecular Syndromology, vol.4, 3, 2013,pp 107-113
2013Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutationsAdes, Lesley; Alders, Mariëlle; Al-Gazali, Lihadh I.; Bellini, Carlo; Dallapiccola, Bruno; Edery, Patrick; et al, Various; Frank, Ulrich; Hornshuh, F; Huisman, Sylvia A; Jagadeesh, S; Mendola, Antonella; Childrens Hospital Westmead: Paediatrics & Child HealthEvaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations, Molecular Syndromology, vol.4, 3, 2013,pp 107-113
2013Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutationsAdes, Lesley; Alders, Mariëlle; Al-Gazali, Lihadh I.; Bellini, Carlo; Dallapiccola, Bruno; Edery, Patrick; et al, Various; Frank, Ulrich; Hornshuh, F; Huisman, Sylvia A; Jagadeesh, S; Mendola, Antonella; Childrens Hospital Westmead: Paediatrics & Child HealthEvaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations, Molecular Syndromology, vol.4, 3, 2013,pp 107-113
2014Extreme growth failure is a common presentation of ligase IV deficiencyAdes, Lesley; Ma, Alan; Albert, Michael; Bicknell, Louise; Duker, Angela; et al, Various; Haghayegh, Sara; Kayserili, Hulya; Murray, Jennie; Van Kogelenberg, Margriet; Wieczorek, Dagmar; Wise, Carol; Yigit, Gokhan; Childrens Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: PathologyExtreme growth failure is a common presentation of ligase IV deficiency, Human Mutation, vol.35, 1, 2014,pp 76-85
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
2015Frontometaphyseal Dysplasia and Keloid Formation without FLNA MutationsAdes, Lesley; Basart, Hanneke; Carter, Erin; Cho, Tae-Joon; Hennekam, Raoul C; Maas, Saskia M; Robertson, Stephen P; van de Kar, Annekatrien; van der Horst, Chantal M A M; Wade, Emma M; Wilson, Louise C; Childrens Hospital Westmead: Paediatrics & Child HealthFrontometaphyseal Dysplasia and Keloid Formation without FLNA Mutations, American Journal of Medical Genetics. Part A, vol.167, 6, 2015,pp 1215-1222
2006Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.Ades, Lesley; Aftimos, Salim; Boute, Odile; et, al; Fiskerstrand, Torunn; Garcia-Miñaur, Sixto; Green, Andrew; Grix, Arthur; Jenkins, Zandra A.; Morgan, Timothy; Robertson, Stephen P.; Children's Hospital Westmead: Paediatrics & Child HealthFrontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity., American journal of medical genetics Part A, vol.140,(16),2006,pp 1726-1736
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: The results of an X-chromosome exome sequencing studyAdes, Lesley; Craig, Maria; Basehore, Monica J.; Brooks, Susan Sklower; et al, Various; Field, Michael; Friez, M.; Mcgee, Stephen J.; Saxon, Samantha; Sebold, Courtney Drake; Skinner, Cindy; Stevenson, Roger E; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthHUWE1 mutations in Juberg-Marsidi and Brooks syndromes: The results of an X-chromosome exome sequencing study, BMJ Open, vol.6, 4, 2016,pp 1-9
2016International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the Montalcino Aortic ConsortiumAdes, Lesley; Bakshi, Madhura; Jeremy, Richmond; Braverman, Alan; De Backer, J.; et al, Various; Evangelista, Arturo; Jondeau, G.; Muino-Mosquera, Laura; Naudion, Sophie; Regalado, Ellen S.; Ropers, Jacques; Teixedo, Guisela; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineInternational registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the Montalcino Aortic Consortium, Circulation Cardiovascular Genetics, vol.9, 6, 2016,pp 548-558
2004Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism.Ades, Lesley; Daniel, Art; Darmanian, Artur; Kennedy, Craig; Malafiej, Paul; Peters, Gregory; Tembe, Varsha; Wu, Zhanhe; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Western Clinical School: Obstetrics & Gynaecology; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Western Clinical School: Obstetrics & GynaecologyIssues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism., Prenatal diagnosis, vol.24,(7),2004,pp 524-536