Turan S - Search Results

1

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H. Mäkitie O, et al. Among authors: turan s. J Bone Miner Res. 2010 Oct;25(10):2165-74. doi: 10.1002/jbmr.105. J Bone Miner Res. 2010. PMID: 20499351 Free PMC article.

2

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Turan S, Aydin C, Bereket A, Akcay T, Güran T, Yaralioglu BA, Bastepe M, Jüppner H. Turan S, et al. Bone. 2010 Feb;46(2):402-9. doi: 10.1016/j.bone.2009.09.016. Epub 2009 Sep 29. Bone. 2010. PMID: 19796717 Free PMC article.

3

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis.

Chillambhi S, Turan S, Hwang DY, Chen HC, Jüppner H, Bastepe M. Chillambhi S, et al. Among authors: turan s. J Clin Endocrinol Metab. 2010 Aug;95(8):3993-4002. doi: 10.1210/jc.2009-2205. Epub 2010 May 5. J Clin Endocrinol Metab. 2010. PMID: 20444925 Free PMC article.

4

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Turan S, Akin L, Akcay T, Adal E, Sarikaya S, Bastepe M, Jüppner H. Turan S, et al. Eur J Endocrinol. 2010 Sep;163(3):489-93. doi: 10.1530/EJE-10-0348. Epub 2010 Jun 10. Eur J Endocrinol. 2010. PMID: 20538864 Free PMC article.

5

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

Fernández-Rebollo E, Pérez de Nanclares G, Lecumberri B, Turan S, Anda E, Pérez-Nanclares G, Feig D, Nik-Zainal S, Bastepe M, Jüppner H. Fernández-Rebollo E, et al. Among authors: turan s. J Bone Miner Res. 2011 Aug;26(8):1854-63. doi: 10.1002/jbmr.408. J Bone Miner Res. 2011. PMID: 21523828 Free PMC article.

6

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.

Fernández-Rebollo E, Maeda A, Reyes M, Turan S, Fröhlich LF, Plagge A, Kelsey G, Jüppner H, Bastepe M. Fernández-Rebollo E, et al. Among authors: turan s. Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6638-43. doi: 10.1073/pnas.1117608109. Epub 2012 Apr 10. Proc Natl Acad Sci U S A. 2012. PMID: 22496590 Free PMC article.

7

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. 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.

8

Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

Turan S, Fernandez-Rebollo E, Aydin C, Zoto T, Reyes M, Bounoutas G, Chen M, Weinstein LS, Erben RG, Marshansky V, Bastepe M. Turan S, et al. J Bone Miner Res. 2014 Mar;29(3):749-60. doi: 10.1002/jbmr.2070. J Bone Miner Res. 2014. PMID: 23956044 Free PMC article.

9

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene.

Turan S, Bastepe M. Turan S, et al. Horm Res Paediatr. 2013;80(4):229-41. doi: 10.1159/000355384. Epub 2013 Oct 3. Horm Res Paediatr. 2013. PMID: 24107509 Free PMC article. Review.

10

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.

Turan S, Thiele S, Tafaj O, Brix B, Atay Z, Abali S, Haliloglu B, Bereket A, Bastepe M. Turan S, et al. Bone. 2015 Feb;71:53-7. doi: 10.1016/j.bone.2014.10.006. Epub 2014 Oct 18. Bone. 2015. PMID: 25464124 Free PMC article.

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