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16 results for Ravn,+Kirstine

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ArticlesPeer ReviewedFull Text
MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome
Author / Creator:Signorini, Cinzia ; De Felice, Claudio ; Leoncini, Silvia ; Møller, Rikke S ; Zollo, Gloria ; Buoni, Sabrina ; Cortelazzo, Alessio ; Guerranti, Roberto ; Durand, Thierry ; Ciccoli, Lucia ; D'Esposito, Maurizio ; Ravn, Kirstine ; Hayek, Joussef
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-03, Vol.11 (3), p.e0150101-e0150101
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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
Author / Creator:Henriksen, Mari Wold ; Ravn, Kirstine ; Paus, Benedicte ; von Tetzchner, Stephen ; Skjeldal, Ola H
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2018-10, Vol.19 (1), p.184-184, Article 184
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Analysis of the Phenotypes in the Rett Networked Database
Author / Creator:Frullanti, Elisa ; Papa, Filomena T. ; Grillo, Elisa ; Clarke, Angus ; Ben-Zeev, Bruria ; Pineda, Mercedes ; Bahi-Buisson, Nadia ; Bienvenu, Thierry ; Armstrong, Judith ; Roche Martinez, Ana ; Mari, Francesca ; Nissenkorn, Andreea ; Lo Rizzo, Caterina ; Veneselli, Edvige ; Russo, Silvia ; Vignoli, Aglaia ; Pini, Giorgio ; Djuric, Milena ; Bisgaard, Anne-Marie ; Ravn, Kirstine ; Bosnjak, Vlatka Mejaski ; Hayek, Joussef ; Khajuria, Rajni ; Montomoli, Barbara ; Cogliati, Francesca ; Pintaudi, Maria ; Hadzsiev, Kinga ; Craiu, Dana ; Voinova, Victoria ; Djukic, Aleksandra ; Villard, Laurent ; Renieri, Alessandra
Publisher:New York: Hindawi
Journal title:International journal of genomics, 2019-01, Vol.2019, p.1-9
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Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
Author / Creator:Ravn, Kirstine ; Roende, Gitte ; Duno, Morten ; Fuglsang, Kathrine ; Eiklid, Kristin L ; Tümer, Zeynep ; Nielsen, Jytte B ; Skjeldal, Ola H
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.58-58
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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Author / Creator:Ostergaard, Elsebet ; Weraarpachai, Woranontee ; Ravn, Kirstine ; Born, Alfred Peter ; Jønson, Lars ; Duno, Morten ; Wibrand, Flemming ; Shoubridge, Eric A ; Vissing, John
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-03, Vol.52 (3), p.203-207
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Author / Creator:Carrozzo, Rosalba ; Verrigni, Daniela ; Rasmussen, Magnhild ; de Coo, Rene ; Amartino, Hernan ; Bianchi, Marzia ; Buhas, Daniela ; Mesli, Samir ; Naess, Karin ; Born, Alfred Peter ; Woldseth, Berit ; Prontera, Paolo ; Batbayli, Mustafa ; Ravn, Kirstine ; Joensen, Fróði ; Cordelli, Duccio M. ; Santorelli, Filippo Maria ; Tulinius, Mar ; Darin, Niklas ; Duno, Morten ; Jouvencel, Philippe ; Burlina, Alberto ; Stangoni, Gabriela ; Bertini, Enrico ; Redonnet-Vernhet, Isabelle ; Wibrand, Flemming ; Dionisi-Vici, Carlo ; Uusimaa, Johanna ; Vieira, Paivi ; Osorio, Andrés Nascimento ; McFarland, Robert ; Taylor, Robert W. ; Holme, Elisabeth ; Ostergaard, Elsebet
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.243-252
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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Author / Creator:Ng, Yi Shiau ; Alston, Charlotte L ; Diodato, Daria ; Morris, Andrew A ; Ulrick, Nicole ; Kmoch, Stanislav ; Houštěk, Josef ; Martinelli, Diego ; Haghighi, Alireza ; Atiq, Mehnaz ; Gamero, Montserrat Anton ; Garcia-Martinez, Elena ; Kratochvílová, Hana ; Santra, Saikat ; Brown, Ruth M ; Brown, Garry K ; Ragge, Nicola ; Monavari, Ahmad ; Pysden, Karen ; Ravn, Kirstine ; Casey, Jillian P ; Khan, Arif ; Chakrapani, Anupam ; Vassallo, Grace ; Simons, Cas ; McKeever, Karl ; O'Sullivan, Siobhan ; Childs, Anne-Marie ; Østergaard, Elsebet ; Vanderver, Adeline ; Goldstein, Amy ; Vogt, Julie ; Taylor, Robert W ; McFarland, Robert
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2016-11, Vol.53 (11), p.768-775
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Early onset seizures and Rett-like features associated with mutations in CDKL5
Author / Creator:Evans, Julie C ; Archer, Hayley L ; Colley, James P ; Ravn, Kirstine ; Nielsen, Jytte Bieber ; Kerr, Alison ; Williams, Elizabeth ; Christodoulou, John ; Gécz, Jozef ; Jardine, Philip E ; Wright, Michael J ; Pilz, Daniela T ; Lazarou, Lazarus ; Cooper, David N ; Sampson, Julian R ; Butler, Rachel ; Whatley, Sharon D ; Clarke, Angus J
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1113-1120
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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation
Author / Creator:Grønskov, Karen ; Poole, Rebecca L ; Hahnemann, Johanne M D ; Thomson, Jennifer ; Tümer, Zeynep ; Brøndum-Nielsen, Karen ; Murphy, Rinki ; Ravn, Kirstine ; Melchior, Linea ; Dedic, Alma ; Dolmer, Birgitte ; Temple, I Karen ; Boonen, Susanne E ; Mackay, Deborah J G
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-05, Vol.48 (5), p.308-311
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Large genomic rearrangements in MECP2
Author / Creator:Ravn, Kirstine ; Nielsen, Jytte Bieber ; Skjeldal, Ola Husbeth ; Kerr, Alison ; Hulten, Maj ; Schwartz, Marianne
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-03, Vol.25 (3), p.324-324
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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy: Letter
Author / Creator:Klitten, Laura L ; Møller, Rikke S ; Ravn, Kirstine ; Hjalgrim, Helle ; Tommerup, Niels
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.1-2
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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
Author / Creator:KLITTEN, Laura L ; MØLLER, Rikke S ; RAVN, Kirstine ; HJALGRIM, Helle ; TOMMERUP, Niels
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.1-2
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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver—Russell syndrome and growth retardation : Copy-number variation
Author / Creator:GRØNSKOV, Karen ; POOLE, Rebecca L ; DOLMER, Birgitte ; KAREN TEMPLE, I ; BOONEN, Susanne E ; MACKAY, Deborah J. G ; HAHNEMANN, Johanne M. D ; THOMSON, Jennifer ; TÜMER, Zeynep ; BRØNDUM-NIELSEN, Karen ; MURPHY, Rinki ; RAVN, Kirstine ; MELCHIOR, Linea ; DEDIC, Alma
Publisher:London: BMJ Publishing Group
Journal title:Journal of medical genetics, 2011, Vol.48 (5), p.308-311
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An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
Author / Creator:Ravn, K ; Wibrand, F ; Hansen, F J ; Horn, N ; Rosenberg, T ; Schwartz, M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2001-10, Vol.9 (10), p.805-809
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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome
Author / Creator:Charman, Tony ; Neilson, Tracey C S ; Mash, Veronica ; Archer, Hayley ; Gardiner, Mary T ; Knudsen, Gun P S ; McDonnell, Aoibhinn ; Perry, Jacqueline ; Whatley, Sharon D ; Bunyan, David J ; Ravn, Kirstine ; Mount, Rebecca H ; Hastings, Richard P ; Hulten, Maj ; Ørstavik, Karen Helene ; Reilly, Sheena ; Cass, Hilary ; Clarke, Angus ; Kerr, Alison M ; Bailey, Mark E S
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1121-1130
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An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
Author / Creator:Ravn, Kirstine ; Wibrand, Flemming ; Hansen, Flemming Juul ; Horn, Nina ; Rosenberg, Thomas ; Schwartz, Marianne
Journal title:European journal of human genetics : EJHG, 2001-10, Vol.9 (10), p.805-809
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MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome

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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

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Analysis of the Phenotypes in the Rett Networked Database

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Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

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Early onset seizures and Rett-like features associated with mutations in CDKL5

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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver–Russell syndrome and growth retardation

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Large genomic rearrangements in MECP2

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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy: Letter

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Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy

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Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver—Russell syndrome and growth retardation : Copy-number variation

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An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

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An mtDNA mutation, 14453G1A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

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