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Rita Bertalan, Ph.D. - Publications

Affiliations: 
2009 Semmelweis Egyetem, Hungary 
Area:
Obstetrics and Gynecology
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26 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Beniczky NJ, Szücs N, Gellén B, Bertalan RÁ. [Genetic advances and multidisciplinary patient care in Turner syndrome]. Orvosi Hetilap. 165: 416-423. PMID 38493425 DOI: 10.1556/650.2024.32998  0.695
2022 Kovács ÁF, Beniczky NJ, Bertalan RÁ, Sallai Á. [Diagnostics and follow-up strategy for Silver–Russell syndrome based on a case report showing familial accumulation]. Orvosi Hetilap. 163: 1775-1781. PMID 36335483 DOI: 10.1556/650.2022.32616  0.758
2020 Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, ... ... Bertalan R, et al. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 () gene. Proceedings of the National Academy of Sciences of the United States of America. PMID 32493750 DOI: 10.1073/Pnas.1921676117  0.424
2020 Rakover YT, Admoni O, Assad GE, London S, Barhoum MN, Ludar H, Almagor T, Bertalan R, Bashamboo A, McElreavey K. OR15-07 Novel Genes Involved in Sex Differentiation Identified by Whole-Exome Sequencing in a Cohort of Children with Disorders of Sex Development Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.280  0.376
2019 Nagy O, Kárteszi J, Hartwig M, Bertalan R, Jávorszky E, Erhardt É, Patócs A, Tornóczky T, Balogh I, Ujfalusi A. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development. Molecular Biology Reports. PMID 31338750 DOI: 10.1007/S11033-019-04980-8  0.696
2019 McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, ... ... Bertalan R, et al. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31337883 DOI: 10.1038/S41436-019-0606-Y  0.776
2019 Bertalan R, Bencsik Z, Mezei P, Vajda Z, Butz H, Patócs A. Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. Molecular Biology Reports. PMID 31280422 DOI: 10.1007/S11033-019-04688-9  0.758
2018 Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, et al. Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. American Journal of Human Genetics. 102: 487-493. PMID 29478779 DOI: 10.1016/J.Ajhg.2018.01.021  0.766
2018 Tőke J, Bertalan R, Gergics P, Halász Z. [Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency]. Orvosi Hetilap. 159: 278-284. PMID 29429351 DOI: 10.1556/650.2018.31029  0.747
2017 Dávid A, Butz H, Halász Z, Török D, Nyirő G, Muzsnai Á, Csákváry V, Luczay A, Sallai Á, Hosszú É, Felszeghy E, Tar A, Szántó Z, Fekete GL, Kun I, ... ... Bertalan R, et al. [The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study]. Orvosi Hetilap. 158: 1351-1356. PMID 28823207 DOI: 10.1556/650.2017.30829  0.745
2017 Bertalan R, Admoni O, Bashamboo A, Tenenbaum-Rakover Y, McElreavey K. A Novel HSD17B3 Gene Mutation in a 46,XY Female Phenotype Newborn Identified by Whole Exome Sequencing. Clinical Endocrinology. PMID 28617986 DOI: 10.1111/Cen.13396  0.449
2011 Szappanos A, Patócs A, Gergics P, Bertalan R, Kerti A, Acs B, Feldmann K, Rácz K, Tóth M. The 83,557insA variant of the gene coding 11β-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome. The Journal of Steroid Biochemistry and Molecular Biology. 123: 79-84. PMID 21111044 DOI: 10.1016/J.Jsbmb.2010.11.009  0.621
2010 Bertalan R, Sallai A, Sólyom J, Lotz G, Szabó I, Kovács B, Szabó E, Patócs A, Rácz K. Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy. Thyroid : Official Journal of the American Thyroid Association. 20: 327-32. PMID 20146656 DOI: 10.1089/Thy.2009.0182  0.794
2010 Sallai A, Sólyom J, Dobos M, Szabó J, Halász Z, Ságodi L, Niederland T, Kozári A, Bertalan R, Ugocsai P, Fekete G. Y-chromosome markers in Turner syndrome: Screening of 130 patients. Journal of Endocrinological Investigation. 33: 222-7. PMID 19625757 DOI: 10.1007/Bf03345783  0.726
2009 Toke J, Patócs A, Gergics P, Bertalan R, Tóth M, Rácz K, Tulassay Z. [Extracellular calcium sensing under normal and pathological conditions]. Orvosi Hetilap. 150: 781-90. PMID 19362934 DOI: 10.1556/Oh.2009.28602  0.566
2009 Bertalan R, Patocs A, Nagy B, Derzsy Z, Gullai N, Szappanos A, Rigo J, Racz K. Overrepresentation of BclI polymorphism of the glucocorticoid receptor gene in pregnant women with HELLP syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry. 405: 148-52. PMID 19336230 DOI: 10.1016/J.Cca.2009.03.046  0.702
2009 Bertalan R, Patócs A, Boyle B, Rigó J, Rácz K. The protective effect of the ER22/23EK polymorphism against an excessive weight gain during pregnancy. Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology. 25: 379-82. PMID 19241242 DOI: 10.1080/09513590902730762  0.518
2008 Bertalan R, Patocs A, Vasarhelyi B, Treszl A, Varga I, Szabo E, Tamas J, Toke J, Boyle B, Nobilis A, Rigo J, Racz K. Association between birth weight in preterm neonates and the BclI polymorphism of the glucocorticoid receptor gene. The Journal of Steroid Biochemistry and Molecular Biology. 111: 91-4. PMID 18595687 DOI: 10.1016/J.Jsbmb.2008.05.002  0.667
2008 Halász Z, Bertalan R, Toke J, Patócs A, Tóth M, Fekete G, Gláz E, Rácz K. Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency. Journal of Endocrinological Investigation. 31: 74-8. PMID 18296909 DOI: 10.1007/Bf03345570  0.809
2008 Boyle B, Korányi K, Patocs A, Liko I, Szappanos A, Bertalan R, Racz K, Balazs C. Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy. The British Journal of Ophthalmology. 92: 131-4. PMID 18156379 DOI: 10.1136/Bjo.2007.126789  0.678
2007 Luczay A, Bertalan R, Racz K. The 9th European congress of endocrinology. Pediatric Endocrinology Reviews : Per. 5: 686-7. PMID 18084164  0.393
2007 Bertalan R, Csabay L, Blazovics A, Rigo J, Varga I, Halasz Z, Toldy E, Boyle B, Racz K. Maternal hyperandrogenism beginning from early pregnancy and progressing until delivery does not produce virilization of a female newborn. Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology. 23: 581-3. PMID 17852424 DOI: 10.1080/09513590701553571  0.747
2006 Halász Z, Toke J, Patócs A, Bertalan R, Tömböl Z, Sallai A, Hosszú E, Muzsnai A, Kovács L, Sólyom J, Fekete G, Rácz K. High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. Endocrine. 30: 255-60. PMID 17526936 DOI: 10.1007/S12020-006-0002-7  0.77
2006 Majnik J, Patócs A, Balogh K, Luczay A, Török D, Szabó V, Borgulya G, Gergics P, Szappanos A, Bertalan R, Belema B, Toke J, Sereg M, Nagy ZZ, Sólyom J, et al. [Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity]. Orvosi Hetilap. 147: 2107-15. PMID 17209299  0.555
2005 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. [Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients]. Orvosi Hetilap. 146: 2191-7. PMID 16323565  0.773
2005 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. 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. The Journal of Steroid Biochemistry and Molecular Biology. 97: 257-65. PMID 16176874 DOI: 10.1016/J.Jsbmb.2005.06.035  0.725
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