Abeguilé G - Search Results

1

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

Lebrun M, Richard N, Abeguilé G, David A, Coëslier Dieux A, Journel H, Lacombe D, Pinto G, Odent S, Salles JP, Taieb A, Gandon-Laloum S, Kottler ML. Lebrun M, et al. Among authors: abeguile g. J Clin Endocrinol Metab. 2010 Jun;95(6):3028-38. doi: 10.1210/jc.2009-1451. Epub 2010 Apr 28. J Clin Endocrinol Metab. 2010. PMID: 20427508

2

[Epigenetics and pseudohypoparathyroidism].

Richard N, Abéguilé G, Coudray N, Kottler ML. Richard N, et al. Among authors: abeguile g. Pathol Biol (Paris). 2010 Oct;58(5):367-71. doi: 10.1016/j.patbio.2009.09.007. Epub 2009 Nov 25. Pathol Biol (Paris). 2010. PMID: 19942373 Review. French.

3

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

Richard N, Abeguilé G, Coudray N, Mittre H, Gruchy N, Andrieux J, Cathebras P, Kottler ML. Richard N, et al. Among authors: abeguile g. J Clin Endocrinol Metab. 2012 May;97(5):E863-7. doi: 10.1210/jc.2011-2804. Epub 2012 Feb 29. J Clin Endocrinol Metab. 2012. PMID: 22378814

4

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.

Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Geneviève D, et al. Among authors: abeguile g. Eur J Hum Genet. 2005 Sep;13(9):1033-9. doi: 10.1038/sj.ejhg.5201448. Eur J Hum Genet. 2005. PMID: 15915160

5

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Molin A, Wiedemann A, Demers N, Kaufmann M, Do Cao J, Mainard L, Dousset B, Journeau P, Abeguile G, Coudray N, Mittre H, Richard N, Weryha G, Sorlin A, Jones G, Kottler ML, Feillet F. Molin A, et al. Among authors: abeguile g. J Bone Miner Res. 2017 Sep;32(9):1893-1899. doi: 10.1002/jbmr.3181. Epub 2017 Jul 13. J Bone Miner Res. 2017. PMID: 28548312 Free article.

6

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.

Molin A, Nowoczyn M, Coudray N, Ballandone C, Abéguilé G, Mittre H, Richard N, Eckart P, Castanet M, Kottler ML. Molin A, et al. Among authors: abeguile g. Eur J Med Genet. 2019 Nov;62(11):103577. doi: 10.1016/j.ejmg.2018.11.011. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423445

7

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse.

Zbucka-Kretowska M, Marcus-Braun N, Eboue C, Abeguile G, Wolczynski S, Kottler ML, Von Theobald P. Zbucka-Kretowska M, et al. Among authors: abeguile g. Folia Histochem Cytobiol. 2011;49(3):521-7. doi: 10.5603/fhc.2011.0073. Folia Histochem Cytobiol. 2011. PMID: 22038234 Free article.

8

Correcting for different amplification rates of internal standard and template when measuring cDNA by competitive PCR.

Delarue B, Breard E, Abeguile G, Lemaire M, Mittre H, Leymarie P. Delarue B, et al. Among authors: abeguile g. Biotechniques. 2000 Mar;28(3):396-8. doi: 10.2144/00283bm01. Biotechniques. 2000. PMID: 10723547 Free article. No abstract available.

9

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Mittre H, Duhamel JF, Abeguile G, Lemaire M, Leymarie P. Mittre H, et al. Among authors: abeguile g. Hum Mutat. 2000 Jan;15(1):121. doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU34>3.0.CO;2-2. Hum Mutat. 2000. PMID: 10612849 No abstract available.

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