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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
Gonadotrophic status in adolescents with pituitary stalk interruption syndrome.
Rottembourg D, Linglart A, Adamsbaum C, Lahlou N, Teinturier C, Bougnères P, Carel JC. Rottembourg D, et al. Among authors: linglart a. Clin Endocrinol (Oxf). 2008 Jul;69(1):105-11. doi: 10.1111/j.1365-2265.2007.03155.x. Epub 2008 Jul 1. Clin Endocrinol (Oxf). 2008. PMID: 18088398
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.
Maupetit-Méhouas S, Mariot V, Reynès C, Bertrand G, Feillet F, Carel JC, Simon D, Bihan H, Gajdos V, Devouge E, Shenoy S, Agbo-Kpati P, Ronan A, Naud-Saudreau C, Lienhardt A, Silve C, Linglart A. Maupetit-Méhouas S, et al. Among authors: linglart a. J Med Genet. 2011 Jan;48(1):55-63. doi: 10.1136/jmg.2010.081356. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972248 Free article.
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
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
Lambert AS, Grybek V, Francou B, Esterle L, Bertrand G, Bouligand J, Guiochon-Mantel A, Hieronimus S, Voitel D, Soskin S, Magdelaine C, Lienhardt A, Silve C, Linglart A. Lambert AS, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2014 Mar;99(3):E469-73. doi: 10.1210/jc.2013-3136. Epub 2014 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423332
265 results