The Fanconi anaemia group G gene FANCG is identical with XRCC9

Autor: Martin Digweed, Madeleine Carreau, Bender O, Jan C. Pronk, de Winter Jp, Quinten Waisfisz, van Berkel Cg, Fré Arwert, Detlev Schindler, Bosnoyan-Collins L, Holger Hoehn, Ilja Demuth, Martin A. Rooimans, Hans Joenje, Noa Alon, Manuel Buchwald

Publikováno v: Nature Genetics, 20(3), 281-283. Nature Publishing Group
de Winter, JP, Waisfisz, Q, Rooimans, MA, van Berkel, CGM, Bosnoyan-Collins, L, Alon, N, Carreau, M, Bender, O, Demuth, I, Schindler, D, Pronk, JC, Arwert, F, Hoehn, H, Digweed, M, Buchwald, M & Joenje, H 1998, ' The Fanconi anaemia group G gene FANCG is identical with XRCC9 ', Nature Genetics, vol. 20, no. 3, pp. 281-283 . https://doi.org/10.1038/3093

Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms including developmental anomalies, bone marrow failure and early occurrence of malignancies1. In addition to spontaneous chromosome instability, FA cells exhibit cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c241ee99f4ade884358a7356eb185f5f
https://research.vumc.nl/en/publications/33c634b6-54b3-4a03-bac0-a0febcaa1485

Genotype-phenotype correlation in vanishing white matter disease.

Autor: van der Lei HD, van Berkel CG, van Wieringen WN, Brenner C, Feigenbaum A, Mercimek-Mahmutoglu S, Philippart M, Tatli B, Wassmer E, Scheper GC, van der Knaap MS

Publikováno v: Neurology; 10/26/2010, Vol. 75 Issue 17, p1555-1559, 5p

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

Autor: Martin A. Rooimans, Hans Joenje, Noa Alon, Maureen E. Hoatlin, de Groot J, Bosnoyan-Collins L, de Winter Jp, Fré Arwert, Christopher G. Mathew, Quinten Waisfisz, Jan C. Pronk, Yu Zhi, van Berkel Cg, Rik J. Scheper, van Der Weel L, Manuel Buchwald

Publikováno v: King's College London
de Winter, JP, Rooimans, MA, van der Weel, L, van Berkel, CGM, Alon, N, Bosnoyan-Collins, L, de Groot, J, Zhi, Y, Waisfisz, Q, Pronk, JC, Arwert, F, Mathew, CG, Scheper, RJ, Hoatlin, ME, Buchwald, M & Joenje, H 2000, ' The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM ', Nature Genetics, vol. 24, no. 1, pp. 15-16 . https://doi.org/10.1038/71626
Nature Genetics, 24(1), 15-16. Nature Publishing Group

Fanconi anaemia (FA) is a chromosomal instability syndrome with autosomal recessive inheritance. We have identified the gene mutated in Fanconi anaemia group F patients by complementation cloning. FANCF has no introns and encodes a polypeptide with h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf27e721a9e0b1228408600c902ff667
https://kclpure.kcl.ac.uk/portal/en/publications/the-fanconi-anaemia-gene-fancf-encodes-a-novel-protein-with-homology-to-rom(e3a1936a-c9a6-4bd4-a913-fd04841534c9).html

O22 – 1585 New insights into the spectrum of phenotypes and genotypes in Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL).

Autor: Hamilton, EM, van Berge, L, Steenweg, ME, Linnankivi, T, Uziel, G, Krägeloh-Mann, I, Brautaset, NJ, Andrews, I, de Coo, IF, van Berkel, CG, Polder, E, Scheper, GC

Publikováno v: European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS7-S7, 1p

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Autor: Dallabona C; 1 Department of Life Sciences, University of Parma, Parma, Italy., Abbink TE; 2 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands., Carrozzo R; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Torraco A; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Legati A; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy., van Berkel CG; 2 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands., Niceta M; 5 Molecular Genetics and Genomics Unit, Division of Genetics and Rare Diseases, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Langella T; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy., Verrigni D; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Rizza T; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Diodato D; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Piemonte F; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Lamantea E; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy., Fang M; 6 BGI-Shenzhen, Shenzhen 518083, China 7 Shenzhen Key Laboratory of Neurogenomics, BGI-Shenzhen, Shenzhen 518083, China., Zhang J; 6 BGI-Shenzhen, Shenzhen 518083, China 7 Shenzhen Key Laboratory of Neurogenomics, BGI-Shenzhen, Shenzhen 518083, China., Martinelli D; 8 Division of Metabolism, 'Bambino Gesù' Children's Hospital, Rome, Italy., Bevivino E; 8 Division of Metabolism, 'Bambino Gesù' Children's Hospital, Rome, Italy., Dionisi-Vici C; 8 Division of Metabolism, 'Bambino Gesù' Children's Hospital, Rome, Italy., Vanderver A; 9 Department of Neurology, Children's National Medical Center, Washington, USA., Philip SG; 10 Department of Pediatric Neurology, Birmingham Children's Hospital, Birmingham, UK., Kurian MA; 11 Department of Neurology, Great Ormond Street Hospital, London, UK 12 Developmental Neurosciences, UCL-Institute of Child Health, London, UK., Verma IC; 13 Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India., Bijarnia-Mahay S; 13 Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India., Jacinto S; 14 Paediatric Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal., Furtado F; 15 Paediatric Department, Unidade Local de Saúde do Baixo Alentejo, Beja, Portugal., Accorsi P; 16 Child Neuropsychiatry Unit, Spedali Civili, Brescia, Italy., Ardissone A; 17 Child Neurology Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy., Moroni I; 17 Child Neurology Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy., Ferrero I; 1 Department of Life Sciences, University of Parma, Parma, Italy., Tartaglia M; 5 Molecular Genetics and Genomics Unit, Division of Genetics and Rare Diseases, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy., Goffrini P; 1 Department of Life Sciences, University of Parma, Parma, Italy., Ghezzi D; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy enricosilvio.bertini@opbg.net ms.vanderknaap@vumc.nl dghezzi@istituto-besta.it., van der Knaap MS; 2 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands enricosilvio.bertini@opbg.net ms.vanderknaap@vumc.nl dghezzi@istituto-besta.it., Bertini E; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy enricosilvio.bertini@opbg.net ms.vanderknaap@vumc.nl dghezzi@istituto-besta.it.

Publikováno v: Brain : a journal of neurology [Brain] 2016 Mar; Vol. 139 (Pt 3), pp. 782-94. Date of Electronic Publication: 2016 Jan 29.