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Rita Ágnes Bertalan
Observed names:
Bertalan R,
Bertalan, Rita,
R Bertalan,
R. Bertalan,
Rita Bertalan
Institution:
Semmelweis University
Observed institutions:
Semmelweis University,
Institut Pasteur,
Bács-Kiskun Megyei Kórház,
Baranya Megyei Kórház,
Fukuoka Sanno Hospital
ORCID:
0000-0003-4700-4167
Observed ORCID:
0000-0003-4700-4167
OpenAlex ID:
A5081619071
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
2018
·
Anu Bashamboo
, Caroline Eozenou
, et al.
·
The American Journal of Human Genetics
·
96
PDF
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene
2020
·
Caroline Eozenou
, Nitzan Gonen
, et al.
·
Proceedings of the National Academy of Sciences
·
87
PDF
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
2019
·
Ken McElreavey
, Anne Jorgensen
, et al.
·
Genetics in Medicine
·
70
PDF
Y-chromosome markers in Turner syndrome: Screening of 130 patients
2009
·
Á. Sallai
, J. Sólyom
, et al.
·
Journal of Endocrinological Investigation
·
52
10th European Congress of Endocrinology
2007
·
Andrea Luczay
, Rita Bertalan
, et al.
·
Journal of Endocrinological Investigation
·
42
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
2005
·
Attila Patocs
, István Liko
, et al.
·
The Journal of Steroid Biochemistry and Molecular Biology
·
36
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations
2015
·
M. Čizmárová
, K. Hlinková
, et al.
·
Annals of Human Genetics
·
33
High prevalence of PROP1 gene mutations in hungarian patients with childhood-onset combined anterior pituitary hormone deficiency
2006
·
Zita Halász
, Judit Tőke
, et al.
·
Endocrine
·
24
The evolving role of whole-exome sequencing in the management of disorders of sex development
2021
·
Yardena Tenenbaum-Rakover
, Osnat Admoni
, et al.
·
Endocrine Connections
·
23
PDF
Association between birth weight in preterm neonates and the BclI polymorphism of the glucocorticoid receptor gene
2008
·
Rita Bertalan
, Attila Patocs
, et al.
·
The Journal of Steroid Biochemistry and Molecular Biology
·
22
Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy
2007
·
B Boyle
, K Koranyi
, et al.
·
British Journal of Ophthalmology
·
22
Hyperthyroidism Caused by a Germline Activating Mutation of the Thyrotropin Receptor Gene: Difficulties in Diagnosis and Therapy
2010
·
Rita Bertalan
, Ágnes Sallai
, et al.
·
Thyroid
·
16
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
2010
·
Ágnes Szappanos
, Attila Patócs
, et al.
·
The Journal of Steroid Biochemistry and Molecular Biology
·
13
Maternal hyperandrogenism beginning from early pregnancy and progressing until delivery does not produce virilization of a female newborn
2007
·
Rita Bertalan
, Laszlo Csabay
, et al.
·
Gynecological Endocrinology
·
12
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
2019
·
Rita Bertalan
, Zsuzsa Bencsik
, et al.
·
Molecular Biology Reports
·
11
PDF
Overrepresentation of BclI polymorphism of the glucocorticoid receptor gene in pregnant women with HELLP syndrome
2009
·
Rita Bertalan
, Attila Patocs
, et al.
·
Clinica Chimica Acta
·
11
The protective effect of the ER22/23EK polymorphism against an excessive weight gain during pregnancy
2009
·
Rita Bertalan
, Attila Patócs
, et al.
·
Gynecological Endocrinology
·
10
Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”
2018
·
R. Bertalan
, A. Lucas-Herald
, et al.
·
Orphanet Journal of Rare Diseases
·
8
PDF
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
2019
·
Orsolya Nagy
, Judit Kárteszi
, et al.
·
Molecular Biology Reports
·
7
PDF
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
2018
·
Bashamboo A
, Eozenou C
, et al.
·
Yearbook of pediatric endocrinology
·
5
A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány
2017
·
Anna Dávid
, Henriett Butz
, et al.
·
Orvosi Hetilap
·
5
Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency
2008
·
Z. Halász
, R. Bertalan
, et al.
·
Journal of Endocrinological Investigation
·
5
A novel HSD17B3 gene mutation in a 46,XY female‐phenotype newborn identified by whole‐exome sequencing
2017
·
Rita Bertalan
, Osnat Admoni
, et al.
·
Clinical Endocrinology
·
2
Detecting diabetes complications in children
2011
·
R Bertalan
, JW Gregory
·
Practical Diabetes
·
2
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
2020
·
McElreavey K
, Jorgensen A
, et al.
·
Yearbook of pediatric endocrinology
·
1
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Works count:
49
Citation count:
617
H-index:
13
I10-index:
17
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