Fryssira H - Search Results

1

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, Fortunati D, Ballanti P, Iacobini M, Luciani M, Devito R, Pinto R, Caniglia M, Lanino E, Messina C, Cesaro S, Letizia C, Bianchini G, Fryssira H, Grabowski P, Shaw N, Bishop N, Hughes D, Kapur RP, Datta HK, Taranta A, Fornari R, Migliaccio S, Teti A. Del Fattore A, et al. Among authors: fryssira h. J Med Genet. 2006 Apr;43(4):315-25. doi: 10.1136/jmg.2005.036673. Epub 2005 Aug 23. J Med Genet. 2006. PMID: 16118345 Free PMC article.

2

A novel large deletion of the ICR1 region including H19 and putative enhancer elements.

Fryssira H, Amenta S, Kanber D, Sofocleous C, Lykopoulou E, Kanaka-Gantenbein C, Cerrato F, Lüdecke HJ, Bens S, Riccio A, Buiting K. Fryssira H, et al. BMC Med Genet. 2015 May 6;16:30. doi: 10.1186/s12881-015-0173-2. BMC Med Genet. 2015. PMID: 25943194 Free PMC article.

3

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR. Hoornaert KP, et al. Among authors: fryssira h. J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155195 Free PMC article.

4

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

Howald C, Merla G, Digilio MC, Amenta S, Lyle R, Deutsch S, Choudhury U, Bottani A, Antonarakis SE, Fryssira H, Dallapiccola B, Reymond A. Howald C, et al. Among authors: fryssira h. J Med Genet. 2006 Mar;43(3):266-73. doi: 10.1136/jmg.2005.034009. Epub 2005 Jul 1. J Med Genet. 2006. PMID: 15994861 Free PMC article.

5

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Marinakis NM, et al. Among authors: fryssira h. Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008892

6

Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene.

Fryssira H, Kakourou T, Valari M, Stefanaki K, Amenta S, Kanavakis E. Fryssira H, et al. Acta Paediatr. 2011 Jan;100(1):128-33. doi: 10.1111/j.1651-2227.2010.01921.x. Acta Paediatr. 2011. PMID: 20586999

7

A rare case of a male with 45, XO, SRY+, ZFY+ with short stature and mild Turner stigmata.

Ntali G, Sofocleous C, Kouvidi E, Tsagaraki G, Dolianiti M, Kaimara-Papathanasiou A, Fryssira H. Ntali G, et al. Among authors: fryssira h. Horm Res Paediatr. 2012;78(2):127-34. doi: 10.1159/000339157. Epub 2012 Jul 25. Horm Res Paediatr. 2012. PMID: 22832081

8

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.

Settas N, Anapliotou M, Kanavakis E, Fryssira H, Sofocleous C, Dacou-Voutetakis C, Chrousos GP, Voutetakis A. Settas N, et al. Among authors: fryssira h. Menopause. 2015 Nov;22(11):1264-8. doi: 10.1097/GME.0000000000000473. Menopause. 2015. PMID: 25988799

9

Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia.

Kanaka-Gantenbein C, Fryssira H, Kakavakis K, Bouzas E, Thomaidis L, Chrousos G, Mastorakos G. Kanaka-Gantenbein C, et al. Among authors: fryssira h. J Pediatr Endocrinol Metab. 2006 Sep;19(9):1179-83. doi: 10.1515/jpem.2006.19.9.1179. J Pediatr Endocrinol Metab. 2006. PMID: 17128568

10

Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings.

Kanaka-Gantenbein C, Fryssira H, Chrousos G, Mastorakos G. Kanaka-Gantenbein C, et al. Among authors: fryssira h. Am J Med Genet A. 2004 Sep 1;129A(3):330. doi: 10.1002/ajmg.a.30151. Am J Med Genet A. 2004. PMID: 15326640 No abstract available.

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