M. Szarras-Czapnik

发表

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

I. Hughes, C. Shackleton, N. Krone, 2010, The Journal of clinical endocrinology and metabolism.

at Adrenarche Genes Presenting with 46,XY Disordered Sex Development and Androgenization Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor

I. Hughes, N. Krone, W. Arlt, 2010 .

Genes Presenting with 46 , XY Disordered Sex Development and Androgenization Concomitant Mutations in the P 450 Oxidoreductase and Androgen Receptor

I. Hughes, N. Krone, W. Arlt, 2010 .

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients.

K. Kula, J. Słowikowska-Hilczer, B. Kałużewski, 2015, Folia histochemica et cytobiologica.

Correlation of Adipocytokines Levels to Insulin Resistance and Dyslipidaemia in Obese Children and Adolescents in Relation to Puberty Stage

M. Szalecki, J. Książyk, M. Szarras-Czapnik, 2010 .

Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men

Lee B. Smith, K. Kula, J. Słowikowska-Hilczer, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

N. Murphy, R. Hopkin, J. Marcos, 2004, American journal of medical genetics. Part A.

Growth hormone-releasing hormone reverses secondary somatotroph unresponsiveness.

L. Sagnard, M. Olivier, M. Szarras-Czapnik, 1991, The Journal of clinical endocrinology and metabolism.

Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.

S. Lumbroso, J. Lobaccaro, C. Sultan, 1995, The Journal of clinical endocrinology and metabolism.

Familial X/Y translocations associated with variable sexual phenotype

P. Jacobs, A. Sharp, J. Jaruzelska, 2004, Journal of Medical Genetics.

Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

J. Martens, H. Brunner, A. Themmen, 2002, The Journal of clinical endocrinology and metabolism.

A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis.

K. Zucker, Z. Lew-starowicz, M. Szarras-Czapnik, 2007, Journal of pediatric and adolescent gynecology.

Zaburzenia rozwoju płci — nowa nomenklatura oraz wytyczne w postępowaniu terapeutycznym Disorders of sex development — new terminology and new recommendations for therapeutic management

J. Słowikowska-Hilczer, M. Szarras-Czapnik, Katarzyna Bajszczak, 2014 .

The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome.

J. Słowikowska-Hilczer, R. Walczak-Jędrzejowska, M. Szarras-Czapnik, 2020, Endokrynologia Polska.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, B. Köhler, L. Graul-Neumann, 2010, The Journal of clinical endocrinology and metabolism.

Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE).

J. Słowikowska-Hilczer, A. Nordenström, B. Kreukels, 2020, Journal of pediatric urology.

Testicular pathology in 46,XY dysgenetic male pseudohermaphroditism: an approach to pathogenesis of testis cancer.

K. Kula, J. Słowikowska-Hilczer, M. Szarras-Czapnik, 2001, Journal of andrology.

Risk of gonadal neoplasia in patients with disorders/differences of sex development.

J. Słowikowska-Hilczer, L. Duranteau, R. Walczak-Jędrzejowska, 2020, Cancer epidemiology.

Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome

A. Latos-Bieleńska, M. Kotecki, J. Jaruzelska, 1999, Journal of medical genetics.

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study.

B. Cukrowska, K. Chrzanowska, M. Syczewska, 2010, The Journal of clinical endocrinology and metabolism.

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects

W. Tapper, P. Jacobs, A. Sharp, 2005, Journal of Medical Genetics.

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

J. Słowikowska-Hilczer, S. Nef, A. Spik, 2018, Sexual Development.

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.

A. Jezela-Stanek, J. Słowikowska-Hilczer, C. Fisher, 2009, Clinical dysmorphology.

Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency.

P. Chanson, G. Conway, M. Zacharin, 2009, European journal of endocrinology.

[Estimation of the correlation of insulin resistance and selected adipocytokines in children with simple obesity--preliminary study].

M. Szarras-Czapnik, M. Ginalska-Malinowska, Agnieszka Rudzka-Kocjan, 2006, Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego : organ Polskiego Towarzystwa Endokrynologow Dzieciecych.

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

A. Gach, L. Jakubowski, A. Sakowicz, 2020, Reproductive Biology and Endocrinology.

Endocrine disorders in a patient with a suspicion of a mitochondrial disease, MELAS syndrome – a case report and literature review

M. Szalecki, E. Moszczyńska, M. Wysocka-Mincewicz, 2021, Pediatric endocrinology, diabetes, and metabolism.

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

A. Gach, L. Jakubowski, A. Sakowicz, 2020, Archives of medical science : AMS.

Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease

A. Gach, A. Sakowicz, M. Szarras-Czapnik, 2020, Molecular and Cellular Endocrinology.

Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men

Lee B. Smith, K. Kula, J. Słowikowska-Hilczer, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

J. Słowikowska-Hilczer, A. Nordenström, B. Köhler, 2017, BMC Endocrine Disorders.

Combined deficiency of 17 alpha-hydroxylase and 21-hydroxylase in an 8 years old girl.

Z. Mielniczuk, E. Małunowicz, M. Szarras-Czapnik, 1987, Endokrynologia Polska.

Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency.

G. Conway, M. Zacharin, M. Tauber, 2009, European journal of endocrinology.

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, B. Köhler, L. Graul-Neumann, 2010, The Journal of clinical endocrinology and metabolism.

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

I. Hughes, C. Shackleton, N. Krone, 2010, The Journal of clinical endocrinology and metabolism.

Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature

M. Szalecki, A. Malinowska, M. Danko, 2020, Journal of pediatric endocrinology & metabolism : JPEM.