| Nome |
# |
|
Hypogonadism in male and female: which is the best treatment?, file e27ce435-34f3-2581-e053-d805fe0acbaa
|
263
|
|
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: Characterization of the underlying mechanisms, file e27ce42a-323b-2581-e053-d805fe0acbaa
|
235
|
|
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations., file e27ce42a-3a0c-2581-e053-d805fe0acbaa
|
225
|
|
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study, file e27ce431-78db-2581-e053-d805fe0acbaa
|
208
|
|
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients, file e27ce431-8b75-2581-e053-d805fe0acbaa
|
199
|
|
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations, file e27ce431-95a2-2581-e053-d805fe0acbaa
|
199
|
|
Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy in two siblings: Same mutations but very different phenotypes, file e27ce432-5036-2581-e053-d805fe0acbaa
|
198
|
|
Clinical approach to sodium homeostasis disorders in children with pituitary-suprasellar tumors, file e27ce42f-a9ff-2581-e053-d805fe0acbaa
|
168
|
|
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption, file e27ce42a-a548-2581-e053-d805fe0acbaa
|
132
|
|
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: A case report, file e27ce42c-86fd-2581-e053-d805fe0acbaa
|
125
|
|
Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study, file e27ce432-93b8-2581-e053-d805fe0acbaa
|
121
|
|
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup ofpseudohypoparathyroidism affecting selectively Gsα-receptor interaction., file e27ce42a-3853-2581-e053-d805fe0acbaa
|
115
|
|
Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism, file e27ce42f-aa00-2581-e053-d805fe0acbaa
|
102
|
|
X-linked hypophosphatemic rickets: An Italian experts' opinion survey, file e27ce42f-1265-2581-e053-d805fe0acbaa
|
93
|
|
Autosomal Dominant Pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR., file e27ce42a-3a11-2581-e053-d805fe0acbaa
|
92
|
|
2q37 deletions in patients with an albright hereditary osteodystrophy phenotype and PTH resistance, file e27ce42f-1415-2581-e053-d805fe0acbaa
|
90
|
|
Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology, file e27ce431-bc6a-2581-e053-d805fe0acbaa
|
89
|
|
Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology, file e27ce430-fbfb-2581-e053-d805fe0acbaa
|
88
|
|
SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators, file e27ce430-7f63-2581-e053-d805fe0acbaa
|
80
|
|
Distribution of plasma copeptin levels and influence of obesity in children and adolescents, file e27ce431-b3a7-2581-e053-d805fe0acbaa
|
80
|
|
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3, file e27ce42e-e09b-2581-e053-d805fe0acbaa
|
77
|
|
Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement, file e27ce42d-337f-2581-e053-d805fe0acbaa
|
73
|
|
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network, file e27ce42a-e152-2581-e053-d805fe0acbaa
|
59
|
|
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study, file e27ce42e-d007-2581-e053-d805fe0acbaa
|
48
|
|
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3, file e27ce430-5657-2581-e053-d805fe0acbaa
|
46
|
|
Biological clock and heredity in pubertal timing: what is new?, file bf7cb0ba-ffda-4f37-b02a-b6f0f9dbde01
|
41
|
|
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with Pseudohypoparathyroidism type I and GNAS epigenetic alterations., file e27ce42a-519d-2581-e053-d805fe0acbaa
|
40
|
|
Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up, file e27ce432-38b6-2581-e053-d805fe0acbaa
|
40
|
|
Jaffe-Campanacci syndrome or neurofibromatosis type 1: A case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma, file e27ce432-5033-2581-e053-d805fe0acbaa
|
40
|
|
Diagnostic re-evaluation and potential predictor factors of transient and permanent congenital hypothyroidism in eutopic thyroid gland, file e27ce434-4a85-2581-e053-d805fe0acbaa
|
40
|
|
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients, file e27ce431-b10d-2581-e053-d805fe0acbaa
|
38
|
|
Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in down syndrome children, file e27ce432-78fa-2581-e053-d805fe0acbaa
|
37
|
|
Growth assessment in preterm children from birth to preschool age, file e27ce432-8ab5-2581-e053-d805fe0acbaa
|
37
|
|
"primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature", file e27ce432-38ba-2581-e053-d805fe0acbaa
|
35
|
|
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study, file e27ce430-fbf9-2581-e053-d805fe0acbaa
|
27
|
|
Comparison Among Two Liquid Formulations of L-thyroxine in the Treatment of Congenital Hypothyroidism in the First Month of Life: A Pilot Study, file e27ce435-649f-2581-e053-d805fe0acbaa
|
27
|
|
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome, file 0896349a-a018-4638-86d7-8bf5c47ffcac
|
24
|
|
Oestrogenic activity in girls with signs of precocious puberty as exposure biomarker to endocrine disrupting chemicals: a pilot study, file 98aa0b81-3347-4e88-b12e-ddd65eeecd49
|
23
|
|
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients, file e27ce430-fae2-2581-e053-d805fe0acbaa
|
23
|
|
differences of sex development in the newborn: from clinical scenario to molecular diagnosis, file 26f1bb9a-11ae-44b2-8462-eb4f9bd922a5
|
22
|
|
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity, file e27ce42d-3ce0-2581-e053-d805fe0acbaa
|
22
|
|
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients, file e27ce431-1fd6-2581-e053-d805fe0acbaa
|
22
|
|
Predictive factors of malignancy in pediatric patients with thyroid nodules and performance of the Italian classification (SIAPEC 2014) in the outcome of the cytological FNA categories, file e27ce435-7be5-2581-e053-d805fe0acbaa
|
20
|
|
Evaluation of the efficacy of EU-TIRADS and ACR-TIRADS in risk stratification of pediatric patients with thyroid nodules, file d1ebd6eb-bf30-4ecc-843a-f10efeb0812a
|
18
|
|
Papillary thyroid microcarcinoma in a boy with Graves' disease: a case report., file e27ce434-8b6f-2581-e053-d805fe0acbaa
|
17
|
|
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce435-a0d0-2581-e053-d805fe0acbaa
|
15
|
|
differences of sex development in the newborn: from clinical scenario to molecular diagnosis, file e27ce435-754d-2581-e053-d805fe0acbaa
|
14
|
|
Pediatric Myxedema Due to Autoimmune Hypothyroidism: A Rare Complication of a Common Disorder, file 94fd113b-2c8d-400f-b0fe-c9e8d1ef0248
|
13
|
|
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients, file e27ce435-829c-2581-e053-d805fe0acbaa
|
13
|
|
Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR, file e27ce432-4ad6-2581-e053-d805fe0acbaa
|
12
|
|
The Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome, file e27ce435-42c2-2581-e053-d805fe0acbaa
|
12
|
|
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity, file e27ce42d-3381-2581-e053-d805fe0acbaa
|
11
|
|
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations, file e27ce430-ebda-2581-e053-d805fe0acbaa
|
11
|
|
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism, file e27ce433-75cf-2581-e053-d805fe0acbaa
|
11
|
|
Clinical features of thyroid cancer in paediatric age. Experience of a tertiary centre in the 2000-2020 period, file 20cd86a1-e086-4de8-bea2-4a57bfc55176
|
10
|
|
The Italian registry for patients with Prader-Willi syndrome, file 83902521-5b2b-41bd-af74-dad6a798dbed
|
10
|
|
Distribution of plasma copeptin levels and influence of obesity in children and adolescents, file e27ce430-ebd8-2581-e053-d805fe0acbaa
|
9
|
|
Pediatric thyroid surgery: Retrospective analysis on the first 25 pediatric thyroidectomies performed in a reference center for adult thyroid diseases, file 56bb2cd6-60f2-48b3-b978-fe9656a140ca
|
8
|
|
Skeptical Look at the Clinical Implication of Metabolic Syndrome in Childhood Obesity, file ac2ae434-a4ea-43e1-8b3f-81252e6a8ecf
|
7
|
|
Autosomal Dominant Pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes Loss of Imprinting at the A/B DMR., file e27ce428-2cbe-2581-e053-d805fe0acbaa
|
7
|
|
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with Pseudohypoparathyroidism type I and GNAS epigenetic alterations., file e27ce428-2a42-2581-e053-d805fe0acbaa
|
6
|
|
Increase in newly diagnosed type 1 diabetes and serological evidence of recent SARS-CoV-2 infection: Is there a connection?, file 77887c51-81c1-4228-ac91-5a46587818a3
|
5
|
|
The Silent Epidemic of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Children and Adolescents in Italy During the COVID-19 Pandemic in 2020, file 9c22a84c-cbdc-4283-b1f6-d8ea576a05fc
|
5
|
|
Mediterranean Dietary Treatment in Hyperlipidemic Children: Should It Be an Option?, file e27ce435-2d49-2581-e053-d805fe0acbaa
|
5
|
|
Has air pollution any role in the incidence of congenital hypothyroidism?, file 82ec07d4-4115-42c4-98f7-3cbd29c3b811
|
4
|
|
COVID-19 forced restrictions did not affect metabolic control in youth with T2D in Italy, file cc324b8e-daf7-4150-ac9b-e2f548a75441
|
4
|
|
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup ofpseudohypoparathyroidism affecting selectively Gsα-receptor interaction., file e27ce428-34b6-2581-e053-d805fe0acbaa
|
4
|
|
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism, file e27ce42a-aa70-2581-e053-d805fe0acbaa
|
4
|
|
Trends and cyclic variation in the incidence of childhood type 1 diabetes in two Italian regions over 33 years and during the COVID-19 pandemic, file 822f829d-6151-4a85-a06b-8ad40f993a9a
|
3
|
|
Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development, file 40414880-02c3-4730-95e5-d09e79b9e91c
|
2
|
|
Perinatal asphyxia and hypothermic treatment from the endocrine perspective, file 421780ff-493d-4be3-913d-1263e5728a3b
|
2
|
|
Case Report: Role of Ketone Monitoring in Diabetic Ketoacidosis With Acute Kidney Injury: Better Safe Than Sorry, file 7877439e-8e95-4429-9190-4e4825689b3e
|
2
|
|
Editorial: Thyroid nodules and tumors in childhood, file dc2bdf71-57a6-4667-a0a5-1d67ac759ca5
|
2
|
|
SOX2 anophthalmia syndrome, file e27ce426-b240-2581-e053-d805fe0acbaa
|
2
|
|
Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches., file e27ce42a-9d61-2581-e053-d805fe0acbaa
|
2
|
|
Dihydropteridine reductase deficiency in man: from biology to treatment., file e27ce42a-cd23-2581-e053-d805fe0acbaa
|
2
|
|
Combining Real-Time COLD-and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndromeâ, file e27ce42d-8a51-2581-e053-d805fe0acbaa
|
2
|
|
Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism, file e27ce42e-e099-2581-e053-d805fe0acbaa
|
2
|
|
Biological clock and heredity in pubertal timing: what is new?, file e27ce435-4fc3-2581-e053-d805fe0acbaa
|
2
|
|
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability, file e27ce426-ae24-2581-e053-d805fe0acbaa
|
1
|
|
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth., file e27ce426-cec3-2581-e053-d805fe0acbaa
|
1
|
|
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1., file e27ce42a-8de0-2581-e053-d805fe0acbaa
|
1
|
|
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification., file e27ce42a-9d60-2581-e053-d805fe0acbaa
|
1
|
|
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria., file e27ce42a-a632-2581-e053-d805fe0acbaa
|
1
|
|
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome., file e27ce42a-a7e8-2581-e053-d805fe0acbaa
|
1
|
|
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients., file e27ce42a-b38c-2581-e053-d805fe0acbaa
|
1
|
|
New insights into cystinuria: 40 New mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype, file e27ce42a-be92-2581-e053-d805fe0acbaa
|
1
|
|
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism., file e27ce42a-e9c1-2581-e053-d805fe0acbaa
|
1
|
|
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients, file e27ce42a-ea06-2581-e053-d805fe0acbaa
|
1
|
|
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis., file e27ce42a-f4dd-2581-e053-d805fe0acbaa
|
1
|
|
Copeptin role in polyuria-polydipsia syndrome differential diagnosis and reference range in paediatric age, file e27ce42c-c8f9-2581-e053-d805fe0acbaa
|
1
|
|
Growth hormone—Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome, file e27ce42d-3383-2581-e053-d805fe0acbaa
|
1
|
|
Tolvaptan treatment in children with chronic hyponatremia due to inappropriate antidiuretic hormone secretion: A report of three cases, file e27ce42d-7af2-2581-e053-d805fe0acbaa
|
1
|
|
Clinical approach to sodium homeostasis disorders in children with pituitary-suprasellar tumors, file e27ce42f-1273-2581-e053-d805fe0acbaa
|
1
|
|
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3, file e27ce42f-2a8b-2581-e053-d805fe0acbaa
|
1
|
|
Impact of lockdown during COVID-19 emergency on glucose metrics of children and adolescents with type 1 diabetes in Piedmont, Italy, file e27ce432-38b8-2581-e053-d805fe0acbaa
|
1
|
|
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: Characterization of the underlying mechanisms, file e27ce432-4640-2581-e053-d805fe0acbaa
|
1
|
|
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients, file e27ce432-5226-2581-e053-d805fe0acbaa
|
1
|
|
Predictive factors of malignancy in pediatric patients with thyroid nodules and performance of the Italian classification (SIAPEC 2014) in the outcome of the cytological FNA categories, file e27ce432-5228-2581-e053-d805fe0acbaa
|
1
|
|
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce432-7166-2581-e053-d805fe0acbaa
|
1
|
| Totale |
4.042 |