J. Sólyom

发表

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13.

M. Fellous, K. McElreavey, A. Tar, 1997, American journal of medical genetics.

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

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

Genetic homogeneity of autoimmune polyglandular disease type I.

L. Peltonen, G. Romeo, J. Perheentupa, 1996, American journal of human genetics.

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.

T. Battelino, F. Waldhauser, S. Baumgartner-Parzer, 2005, European journal of endocrinology.

K. Samuelsson, O. Ayeni, J. Sólyom, 2017, JB & JS open access.

Procedure for Neonatal Screening for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

M. Knip, G. Schackert, A. Ruokonen, 2001, Hormone Research in Paediatrics.

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

T. Battelino, F. Waldhauser, S. Baumgartner-Parzer, 2005, European journal of endocrinology.

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.

Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies

E. Gláz, C. Shackleton, J. Sólyom, 2005, European Journal of Pediatrics.

Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents

J. Sólyom, W. Teller, J. Homoki, 1988, European Journal of Pediatrics.

Serum Osteocalcin and Insulin-Like Growth Factor I Levels in Children with Congenital Adrenal Hyperplasia

J. Sólyom, Z. Halász, É. Hosszu, 1999, Hormone Research in Paediatrics.

Clinical, Hormonal and Molecular Genetic Characterization of Hungarian Patients with 11β-Hydroxylase Deficiency

K. Rácz, J. Sólyom, W. Sippell, 2001 .

Mutational Analysis of Hungarian Patients with Androgen Insensitivity Syndrome

K. Rácz, O. Hiort, C. Barta, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

ANTERIOR PITUITARY AND ALDOSTERONE SECRETION

J. Sólyom, 1974 .

Stability of 17alpha-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage.

G. Heinze, F. Waldhauser, S. Stöckler‐Ipsiroglu, 2002, Clinical chemistry.

Congenital Adrenal Hyperplasia: Lessons from a Multinational Study

T. Battelino, F. Waldhauser, J. Sólyom, 2002, Hormone Research in Paediatrics.

Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries.

G. Heinze, T. Battelino, F. Waldhauser, 2001, The Journal of clinical endocrinology and metabolism.

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.

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion

E. Vilain, M. Fellous, K. McElreavey, 1995, Human Genetics.

Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by Allele-Specific Amplification

M. Theodoropoulou, A. Guttman, C. Barta, 2001, Fetal Diagnosis and Therapy.

Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.

M. Garami, C. Barta, J. Sólyom, 1999, The Journal of clinical endocrinology and metabolism.

Value of selective screening for congenital adrenal hyperplasia in Hungary.

I. Hughes, J. Sólyom, 1989, Archives of disease in childhood.

Potential advantage of N 363 S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency

J. Sólyom, G. Fekete, A. Ferenczi, 2006 .

A method for identification and follow-up of patients with a steroid-21-hydroxylase deficiency.

G. Hammond, R. Vihko, J. Sólyom, 1979, Clinica chimica acta; international journal of clinical chemistry.

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

R. Kiss, P. Igaz, M. Tóth, 2018 .

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.

J. Sólyom, G. Fekete, A. Ferenczi, 2006, European journal of endocrinology.

Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary

J. Sólyom, D. Török, G. Eckhardt, 2003, European Journal of Pediatrics.

EFFECT OF ALDOSTERONE ON THE INTESTINAL TRANSPORT OF SODIUM AND POTASSIUM IN RATS.

J. Sólyom, A. Spaet, M. Saliga, 1964, Acta physiologica Academiae Scientiarum Hungaricae.

[Presence of antibodies to human herpesvirus type 6 and 7 in Hungarian children].

A. Csiszar, J. Sólyom, A. Horváth, 1999, Orvosi hetilap.

Y-chromosomemarkersinTurnersyndrome: Screeningof130patients

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

‘DOT‐17α‐HYDROXYPROGESTERONE’ RADIOIMMUNOASSAY FOR IDENTIFICATION OF CONGENITAL ADRENAL HYPERPLASIA IN YOUNG INFANTS

J. Sólyom, E. Sólyom, SAROLTA HERVEI, 1981, Acta paediatrica Scandinavica.

[Screening for congenital adrenal hyperplasia in Hungary].

J. Sólyom, 1989, Orvosi hetilap.

Growth Patterns and Final Height in Congenital Adrenal Hyperplasia due to Classical 21-Hydroxylase Deficiency

T. Battelino, F. Waldhauser, R. Hauspie, 2001, Hormone Research in Paediatrics.

Correlation of Blood-Spot 17-Hydroxyprogesterone Daily Profiles and Urinary Steroid Profiles in Congenital Adrenal Hyperplasia

G. Soltész, J. Sólyom, J. Homoki, 2000, Journal of pediatric endocrinology & metabolism : JPEM.

Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia.

J. Sólyom, 1984, Archives of disease in childhood.

BLOOD‐SPOT 17α‐HYDROXYPROGESTERONE RADIOIMMUNOASSAY IN THE FOLLOW‐UP OF CONGENITAL ADRENAL HYPERPLASIA

J. Sólyom, 1981, Clinical endocrinology.

Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper.

R. Vihko, O. Mäentausta, J. Sólyom, 1990, Clinical chemistry.

Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency.

M. Garami, J. Sólyom, G. Fekete, 2003, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Detection of late-onset adrenal hyperplasia in girls with peripubertal virilization.

J. Sólyom, L. Ságodi, I. Petheö, 1987, Acta endocrinologica.

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.

Aldosteronotropic effect of the pituitary incubation medium in the rat.

J. Sólyom, A. Vajda, E. Ludwig, 1971, Acta physiologica Academiae Scientiarum Hungaricae.

Management of congenital adrenal hyperplasia.

J. Sólyom, 1984, Lancet.

Appropriate Sampling Times for Growth Hormone (GH) Measurement during Insulin Tolerance Testing (ITT) in Children

J. Sólyom, F. Péter, I. Ilyés, 2007, Hormone Research in Paediatrics.

Blood-Spot 17-Hydroxyprogesterone Daily Profiles in Infants with Congenital Adrenal Hyperplasia

J. Sólyom, É. Hosszu, G. Gács, 1990, Experimental and clinical endocrinology.