Patócs A - Search Results

1

Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.

Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A. Pálla S, et al. Among authors: patocs a. Sci Rep. 2023 Sep 5;13(1):14658. doi: 10.1038/s41598-023-41878-9. Sci Rep. 2023. PMID: 37670105 Free PMC article.

2

Gene symbol: CYP17A1. Disease: Steroid 17-alpha-hydrolylase deficiency.

Patocs AP, Liko I, Racz K. Patocs AP, et al. Hum Genet. 2005 May;116(6):539. Hum Genet. 2005. PMID: 15991317 No abstract available.

3

Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.

Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K. Patocs A, et al. J Steroid Biochem Mol Biol. 2005 Nov;97(3):257-65. doi: 10.1016/j.jsbmb.2005.06.035. Epub 2005 Sep 19. J Steroid Biochem Mol Biol. 2005. PMID: 16176874

4

[Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients].

Balogh K, Hunyady L, Patócs A, Valkusz Z, Bertalan R, Gergics P, Majnik J, Toke J, Tóth M, Szucs N, Gláz E, Futo L, Horányi J, Rácz K, Tulassay Z. Balogh K, et al. Among authors: patocs a. Orv Hetil. 2005 Oct 23;146(43):2191-7. Orv Hetil. 2005. PMID: 16323565 Review. Hungarian.

5

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

Tõke J, Czirják G, Patócs A, Enyedi B, Gergics P, Csákváry V, Enyedi P, Tóth M. Tõke J, et al. Among authors: patocs a. Clin Endocrinol (Oxf). 2007 Sep;67(3):385-92. doi: 10.1111/j.1365-2265.2007.02896.x. Epub 2007 Jun 7. Clin Endocrinol (Oxf). 2007. PMID: 17555508

6

Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy.

Boyle B, Korányi K, Patocs A, Liko I, Szappanos A, Bertalan R, Racz K, Balazs C. Boyle B, et al. Among authors: patocs a. Br J Ophthalmol. 2008 Jan;92(1):131-4. doi: 10.1136/bjo.2007.126789. Br J Ophthalmol. 2008. PMID: 18156379

7

Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.

Patocs A, Gergics P, Balogh K, Toth M, Fazakas F, Liko I, Racz K. Patocs A, et al. BMC Med Genet. 2008 Apr 16;9:29. doi: 10.1186/1471-2350-9-29. BMC Med Genet. 2008. PMID: 18416845 Free PMC article.

8

BclI polymorphism of the glucocorticoid receptor gene is associated with decreased bone mineral density in patients with endogenous hypercortisolism.

Szappanos A, Patócs A, Tõke J, Boyle B, Sereg M, Majnik J, Borgulya G, Varga I, Likó I, Rácz K, Tóth M. Szappanos A, et al. Among authors: patocs a. Clin Endocrinol (Oxf). 2009 Nov;71(5):636-43. doi: 10.1111/j.1365-2265.2009.03528.x. Epub 2009 Jan 22. Clin Endocrinol (Oxf). 2009. PMID: 19207316

9

[Extracellular calcium sensing under normal and pathological conditions].

Toke J, Patócs A, Gergics P, Bertalan R, Tóth M, Rácz K, Tulassay Z. Toke J, et al. Among authors: patocs a. Orv Hetil. 2009 Apr 26;150(17):781-90. doi: 10.1556/OH.2009.28602. Orv Hetil. 2009. PMID: 19362934 Review. Hungarian.

10

Bone turnover in patients with endogenous Cushing's syndrome before and after successful treatment.

Szappanos A, Toke J, Lippai D, Patócs A, Igaz P, Szücs N, Füto L, Gláz E, Rácz K, Tóth M. Szappanos A, et al. Among authors: patocs a. Osteoporos Int. 2010 Apr;21(4):637-45. doi: 10.1007/s00198-009-0978-y. Epub 2009 Jun 10. Osteoporos Int. 2010. PMID: 19513576

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