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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
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Document type | Article de périodique (Journal article) – Article de recherche |
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Access type | Accès restreint |
Publication date | 2015 |
Language | Anglais |
Journal information | "Clinical Genetics : an international journal of genetics and molecular medicine" - Vol. 87, no. 3, p. 244-251 (2015) |
Peer reviewed | yes |
Publisher | Munksgaard ((Denmark) Copenhagen) |
issn | 0009-9163 |
e-issn | 1399-0004 |
Publication status | Publié |
Affiliations |
UCL
- (SLuc) Centre de génétique médicale UCL UCL - SSS/IREC - Institut de recherche expérimentale et clinique |
Links |
- Larizza Lidia, Roversi Gaia, Volpi Ludovica, Rothmund-Thomson syndrome, 10.1186/1750-1172-5-2
- Wang LL Plon SE. TM
- Van Maldergem L, Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene, 10.1136/jmg.2005.031781
- Quarrell Oliver W.J., Maltby Edna L., Harrison Christine J., Baller Gerold syndrome and Fanconi anaemia, 10.1002/(sici)1096-8628(19980113)75:2<228::aid-ajmg25>3.0.co;2-q
- Seto Marianne L., Lee Samson J., Sze Raymond W., Cunningham Michael L., AnotherTWIST on Baller-Gerold syndrome, 10.1002/ajmg.10065
- Piard Juliette, Holder-Espinasse Muriel, Aral Bernard, Gigot Nadège, Rio Marlène, Tardieu Marc, Puzenat Eve, Goldenberg Alice, Toutain Annick, Franques Jerôme, MacDermot Kay, Bessis Didier, Boute Odile, Callier Patrick, Gueneau Lucie, Huet Frédéric, Vabres Pierre, Catteau Benoît, Faivre Laurence, Thauvin-Robinet Christel, Systematic search for neutropenia should be part of the first screening in patients with poikiloderma, 10.1016/j.ejmg.2011.07.004
- Mercier, Am J Med Genet, 93, 1100 (2013)
- Larizza Lidia, Roversi Gaia, Verloes Alain, Clinical utility gene card for: Rothmund–Thomson syndrome, 10.1038/ejhg.2012.260
- Khumalo N.P., Pillay K., Beighton P., Wainwright H., Walker B., Saxe N., Mayosi B.M., Bateman E.D., Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?, 10.1111/j.1365-2133.2006.07473.x
- Mendoza-Londono, Am J Med Genet, 77, 161 (2005)
Bibliographic reference | Piard, J. ; Aral, B. ; Vabres, P. ; Holder-Espinasse, M. ; Mégarbané, A. ; et. al. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. In: Clinical Genetics : an international journal of genetics and molecular medicine, Vol. 87, no. 3, p. 244-251 (2015) |
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Permanent URL | http://hdl.handle.net/2078.1/164340 |