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The ICET-A Survey on Current Criteria Used by Clinicians for the Assessment of Central Adrenal Insufficiency in Thalassemia: Analysis of Results and Recommendations.
- Published in:
- Mediterranean Journal of Hematology & Infectious Diseases, 2016, v. 8, p. 1, doi. 10.4084/MJHID.2016.034
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- Publication type:
- Article
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
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- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205298
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- Publication type:
- Article
Combined effect of glutamine at position 70 of HLA-DRB1 and alanine at position 57 of HLA-DQB1 in type 1 diabetes: An epitope analysis.
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- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193684
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- Publication type:
- Article
Evaluation of the Auxological and Metabolic Status in Prepubertal Children Born Small for Gestational Age.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 7, p. 677, doi. 10.1515/jpem.2005.18.7.677
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- Publication type:
- Article
High Prevalence of Congenital Hypothyroidism in the Greek Cypriot Population: Results of the Neonatal Screening Program 1990-2000.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 5, p. 453, doi. 10.1515/jpem.2005.18.5.453
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- Publication type:
- Article
Complete Androgen Insensitivity Syndrome Caused by the R855H Mutation in the Androgen Receptor Gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 3, p. 309, doi. 10.1515/jpem.2005.18.3.309
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- Publication type:
- Article
5α-Reductase 2 Gene Mutations in Three Unrelated Patients of Greek Cypriot Origin: Identification of an Ancestral Founder Effect.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 3, p. 241, doi. 10.1515/jpem.2005.18.3.241
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- Publication type:
- Article
Incidence of Insulin Dependent Diabetes Mellitus in Greek Cypriot Children and Adolescents, 1990 - 1994.
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- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 2, p. 203, doi. 10.1515/jpem.1997.10.2.203
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- Publication type:
- Article
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074
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- Publication type:
- Article
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
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- Indian Journal of Endocrinology & Metabolism, 2014, v. 18, p. 572, doi. 10.4103/2230-8210.145077
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- Publication type:
- Article
Endocrine check-up in adolescents and indications for referral: A guide for health care providers.
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- Indian Journal of Endocrinology & Metabolism, 2014, v. 18, p. 526, doi. 10.4103/2230-8210.145055
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- Publication type:
- Article
Growth and endocrine disorders in thalassemia: The international network on endocrine complications in thalassemia (I-CET) position statement and guidelines.
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- Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. 1, p. 8, doi. 10.4103/2230-8210.107808
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- Publication type:
- Article
Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
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- International Journal of Endocrinology, 2017, p. 1, doi. 10.1155/2017/8984365
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- Publication type:
- Article
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15965, doi. 10.3390/ijms242115965
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- Publication type:
- Article
Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00677
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- Publication type:
- Article
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.745048
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- Publication type:
- Article
Stress and Growth in Children and Adolescents.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 1, p. 25, doi. 10.1159/000521074
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- Publication type:
- Article
ESPE and PES International Survey of Centers and Clinicians Delivering Specialist Care for Children and Adolescents with Gender Dysphoria.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 326, doi. 10.1159/000496115
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- Publication type:
- Article
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia.
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- Hormone Research in Paediatrics, 2011, v. 75, n. 3, p. 180, doi. 10.1159/000320040
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- Publication type:
- Article
Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms.
- Published in:
- Genes, 2017, v. 8, n. 1, p. 16, doi. 10.3390/genes8010016
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- Publication type:
- Article
Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients.
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- Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12087
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- Publication type:
- Article
Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 131, doi. 10.1515/jpem-2020-0245
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- Publication type:
- Article
Expensive therapies in children: benefit versus cost of combined treatment of recombinant human growth hormone and gonadotropin-releasing hormone analogue in girls with poor height potential.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 3/4, p. 311, doi. 10.1515/jpem-2013-0210
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- Publication type:
- Article
A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1189, doi. 10.1515/jpem-2013-0150
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- Publication type:
- Article
A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands.
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- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 9/10, p. 987, doi. 10.1515/jpem-2013-0019
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- Publication type:
- Article
The Rise of Insulin and the Fall of Ghrelin.
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- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 10, p. 1081, doi. 10.1515/jpem.2007.20.10.1081
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- Publication type:
- Article
Osteoporosis syndrome in thalassaemia major: an overview.
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- 2010
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- Publication type:
- journal article
The labyrinth of bone disease in thalassaemia: the search for Ariadne’s thread continues.
- Published in:
- European Journal of Haematology, 2009, v. 82, n. 1, p. 13, doi. 10.1111/j.1600-0609.2008.01168.x
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- Publication type:
- Article
The impact of genotype on endocrine complications in thalassaemia major.
- Published in:
- European Journal of Haematology, 2006, v. 77, n. 2, p. 150, doi. 10.1111/j.1600-0609.2006.00681.x
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- Publication type:
- Article
Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.
- Published in:
- International Journal of Molecular Medicine, 2022, v. 49, n. 1, p. N.PAG
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- Publication type:
- Article
A novel MKRN3 nonsense mutation causing familial central precocious puberty.
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- 2017
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- Publication type:
- Letter
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
- Published in:
- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1156616
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- Publication type:
- Article
Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. 296, doi. 10.1210/jc.2010-1024
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- Publication type:
- Article
Obesogens in Adolescence: Challenging Aspects and Prevention Strategies.
- Published in:
- Children, 2024, v. 11, n. 5, p. 602, doi. 10.3390/children11050602
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- Publication type:
- Article
Gonadal function and fertility issues in Thalassaemia.
- Published in:
- Thalassemia Reports, 2013, v. 3, n. 1s, p. 54, doi. 10.4081/thal.2013.s1.e19
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- Publication type:
- Article
Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 380, doi. 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU11>3.0.CO;2-T
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- Publication type:
- Article
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
- Published in:
- Pediatric Diabetes, 2011, v. 12, n. 2, p. 133, doi. 10.1111/j.1399-5448.2010.00743.x
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- Publication type:
- Article
Rising incidence of type 1 diabetes mellitus in children and adolescents in Cyprus in 2000–2004.
- Published in:
- Pediatric Diabetes, 2007, v. 8, n. 6, p. 374, doi. 10.1111/j.1399-5448.2007.00262.x
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- Publication type:
- Article
The incidence of type 1 diabetes mellitus in Greek-Cypriot children and adolescents in 1990-2000.
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- Pediatric Diabetes, 2002, v. 3, n. 4, p. 200, doi. 10.1034/j.1399-5448.2002.30406.x
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- Publication type:
- Article
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
- Published in:
- Journal of Genetics, 2016, v. 95, n. 4, p. 839, doi. 10.1007/s12041-016-0698-y
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- Publication type:
- Article
RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.
- Published in:
- Life (2075-1729), 2023, v. 13, n. 6, p. 1332, doi. 10.3390/life13061332
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- Publication type:
- Article
Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 249, doi. 10.1111/j.1399-0004.1998.tb02691.x
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- Publication type:
- Article
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 3, p. 184, doi. 10.1111/j.1399-0004.1997.tb02450.x
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- Publication type:
- Article
Immunosuppressive Therapy in Insulin Dependent Diabetes.
- Published in:
- Pediatrics International, 1987, v. 29, n. 3, p. 349, doi. 10.1111/j.1442-200X.1987.tb00329.x
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- Publication type:
- Article
In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
- Published in:
- Clinical Endocrinology, 2016, v. 84, n. 1, p. 80, doi. 10.1111/cen.12854
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- Publication type:
- Article
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of the Literature.
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.00626
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- Publication type:
- Article
Estrogen receptor signaling and targets: Bones, breasts and brain (Review).
- Published in:
- Molecular Medicine Reports, 2024, v. 30, n. 2, p. N.PAG, doi. 10.3892/mmr.2024.13268
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- Publication type:
- Article
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 1, p. 74, doi. 10.4274/jcrpe.4829
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- Publication type:
- Article