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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: linglart a. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.
Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M, Maghnie M, Ghizzoni L, de Sanctis L, Lania AG, Beck-Peccoz P, Spada A. Mantovani G, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2010 Nov;95(11):5011-7. doi: 10.1210/jc.2010-1649. Epub 2010 Aug 18. J Clin Endocrinol Metab. 2010. PMID: 20719837 Clinical Trial.
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Maupetit-Méhouas S, Azzi S, Steunou V, Sakakini N, Silve C, Reynes C, Perez de Nanclares G, Keren B, Chantot S, Barlier A, Linglart A, Netchine I. Maupetit-Méhouas S, et al. Among authors: linglart a. Hum Mutat. 2013 Aug;34(8):1172-80. doi: 10.1002/humu.22352. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649963
Multilocus methylation defects in imprinting disorders.
Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP. Mackay DJ, et al. Among authors: linglart a. Biomol Concepts. 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037. Biomol Concepts. 2015. PMID: 25581766 Free article. Review.
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I. Eggermann T, et al. Among authors: linglart a. Clin Epigenetics. 2015 Nov 14;7:123. doi: 10.1186/s13148-015-0143-8. eCollection 2015. Clin Epigenetics. 2015. PMID: 26583054 Free PMC article. Review.
Recent Advances in Imprinting Disorders.
Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T. Soellner L, et al. Among authors: linglart a. Clin Genet. 2017 Jan;91(1):3-13. doi: 10.1111/cge.12827. Epub 2016 Aug 4. Clin Genet. 2017. PMID: 27363536 Review.
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
245 results