Linglart A - Search Results

1

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.

Turan S, Ignatius J, Moilanen JS, Kuismin O, Stewart H, Mann NP, Linglart A, Bastepe M, Jüppner H. Turan S, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2012 Dec;97(12):E2314-9. doi: 10.1210/jc.2012-2920. Epub 2012 Oct 18. J Clin Endocrinol Metab. 2012. PMID: 23087324 Free PMC article.

2

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. Bastepe M, et al. Among authors: linglart a. Nat Genet. 2005 Jan;37(1):25-7. doi: 10.1038/ng1487. Epub 2004 Dec 12. Nat Genet. 2005. PMID: 15592469

3

Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia.

Mahmud FH, Linglart A, Bastepe M, Jüppner H, Lteif AN. Mahmud FH, et al. Among authors: linglart a. Pediatrics. 2005 Feb;115(2):e242-4. doi: 10.1542/peds.2004-1878. Epub 2005 Jan 3. Pediatrics. 2005. PMID: 15629959

4

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M. Linglart A, et al. Am J Hum Genet. 2005 May;76(5):804-14. doi: 10.1086/429932. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800843 Free PMC article.

5

Mechanisms of ligand binding to the parathyroid hormone (PTH)/PTH-related protein receptor: selectivity of a modified PTH(1-15) radioligand for GalphaS-coupled receptor conformations.

Dean T, Linglart A, Mahon MJ, Bastepe M, Jüppner H, Potts JT Jr, Gardella TJ. Dean T, et al. Among authors: linglart a. Mol Endocrinol. 2006 Apr;20(4):931-43. doi: 10.1210/me.2005-0349. Epub 2005 Dec 8. Mol Endocrinol. 2006. PMID: 16339275 Free PMC article.

6

Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, Bastepe M. Linglart A, et al. Endocrinology. 2006 May;147(5):2253-62. doi: 10.1210/en.2005-1487. Epub 2006 Feb 16. Endocrinology. 2006. PMID: 16484323

7

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.

Jüppner H, Linglart A, Fröhlich LF, Bastepe M. Jüppner H, et al. Among authors: linglart a. Ann N Y Acad Sci. 2006 Apr;1068:250-5. doi: 10.1196/annals.1346.029. Ann N Y Acad Sci. 2006. PMID: 16831926

8

Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.

Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A. Mantovani G, et al. Among authors: linglart a. J Clin Endocrinol Metab. 2007 Sep;92(9):3738-42. doi: 10.1210/jc.2007-0869. Epub 2007 Jun 26. J Clin Endocrinol Metab. 2007. PMID: 17595244 Clinical Trial.

9

Linglart A, Bastepe M, Jüppner H. Linglart A, et al. Clin Endocrinol (Oxf). 2007 Dec;67(6):822-31. doi: 10.1111/j.1365-2265.2007.02969.x. Epub 2007 Jul 25. Clin Endocrinol (Oxf). 2007. PMID: 17651445

10

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Among authors: linglart a. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.

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