R. Bertalan

发表

Y-chromosome markers in Turner syndrome: Screening of 130 patients.

J. Sólyom, G. Fekete, P. Ugocsai, 2010, Journal of endocrinological investigation.

[Extracellular calcium sensing under normal and pathological conditions].

Z. Tulassay, K. Rácz, M. Tóth, 2009, Orvosi hetilap.

Association between birth weight in preterm neonates and the BclI polymorphism of the glucocorticoid receptor gene

K. Rácz, I. Varga, B. Vásárhelyi, 2008, The Journal of Steroid Biochemistry and Molecular Biology.

Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy

K. Rácz, A. Patócs, C. Balázs, 2007, British Journal of Ophthalmology.

Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.

E. Szabo, K. Rácz, A. Patócs, 2010, Thyroid : official journal of the American Thyroid Association.

Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency

K. Rácz, M. Tóth, E. Gláz, 2008, Journal of endocrinological investigation.

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

K. Rácz, M. Tóth, A. Patócs, 2011, The Journal of Steroid Biochemistry and Molecular Biology.

Overrepresentation of BclI polymorphism of the glucocorticoid receptor gene in pregnant women with HELLP syndrome.

K. Rácz, A. Patócs, B. Nagy, 2009, Clinica chimica acta; international journal of clinical chemistry.

The protective effect of the ER22/23EK polymorphism against an excessive weight gain during pregnancy

K. Rácz, A. Patócs, J. Rigo, 2009, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

R. Lovell-Badge, A. Rajkovic, K. McElreavey, 2020, Proceedings of the National Academy of Sciences.

Y-chromosome markers in Turner syndrome: Screening of 130 patients

J. Sólyom, G. Fekete, P. Ugocsai, 2010 .

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

E. Rajpert-De Meyts, K. McElreavey, J. Achermann, 2018, American journal of human genetics.

The evolving role of whole-exome sequencing in the management of disorders of sex development

K. McElreavey, C. Sultan, A. Bashamboo, 2021, Endocrine connections.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

G. Conway, K. McElreavey, S. Nef, 2019, Genetics in Medicine.

New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

K. Hlinkova, A. Hlavatá, L. Kovács, 2016, Annals of human genetics.

[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].

Anna L. David, A. Patócs, H. Butz, 2017, Orvosi hetilap.

Detecting diabetes complications in children

J. Gregory, R. Bertalan, JW Gregory, 2011 .

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

A. Patócs, I. Balogh, T. Tornóczky, 2019, Molecular Biology Reports.

Y-chromosomemarkersinTurnersyndrome: Screeningof130patients

J. Sólyom, G. Fekete, P. Ugocsai, 2010 .

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

K. Rácz, M. Tóth, I. Varga, 2005, The Journal of Steroid Biochemistry and Molecular Biology.

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

A. Patócs, H. Butz, Z. Vajda, 2019, Molecular Biology Reports.

High prevalence of PROP1 gene mutations in hungarian patients with childhood-onset combined anterior pituitary hormone deficiency

K. Rácz, L. Kovács, Z. Tömböl, 2006, Endocrine.

Maternal hyperandrogenism beginning from early pregnancy and progressing until delivery does not produce virilization of a female newborn

K. Rácz, A. Blázovics, Z. Halász, 2007, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

K. Hlinkova, A. Hlavatá, D. Ilencikova, 2016, Annals of human genetics.