Luisa de Sanctis Selected Research

Pseudohypoparathyroidism

2/2021	Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
1/2020	Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
1/2019	2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.
1/2018	Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
1/2018	Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
10/2016	The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
1/2016	Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
4/2014	Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.
3/2014	Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
1/2014	Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism.

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Luisa de Sanctis Research Topics

Disease

14	Pseudohypoparathyroidism 02/2021 - 04/2004
4	Obesity 02/2021 - 01/2018
4	Polyostotic Fibrous Dysplasia (McCune Albright Syndrome) 04/2015 - 01/2002
2	Rare Diseases (Rare Disease) 02/2021 - 01/2002
2	Wasting Syndrome (Wasting Disease) 01/2020 - 11/2006
2	Neoplasms (Cancer) 01/2020 - 11/2011
2	Brachydactyly 01/2020 - 04/2004
2	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2020 - 01/2018
2	Hypocalcemia 01/2020 - 01/2014
2	Type 2 Diabetes Mellitus (MODY) 01/2020 - 01/2018
2	Precocious Puberty 06/2008 - 05/2006
1	Hyperlipidemias (Hyperlipidemia) 03/2022
1	Congenital Hypothyroidism (Cretinism) 01/2022
1	Hyperthyroidism 01/2022
1	Cognitive Dysfunction 03/2021
1	Delayed Puberty 03/2021
1	Type E Brachydactyly 02/2021
1	Diabetes Insipidus 01/2021
1	Hydrocephalus (Hydrocephaly) 01/2020
1	Hypoparathyroidism 01/2020
1	Hypothyroidism 01/2020
1	Neurogenic Diabetes Insipidus (Central Diabetes Insipidus) 01/2020
1	Hyperphosphatemia 01/2020
1	Pseudopseudohypoparathyroidism 01/2019
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2019
1	Chromosome 2q37 deletion syndrome 01/2019
1	Hypertension (High Blood Pressure) 01/2018
1	Glucose Intolerance 01/2018
1	Weight Gain 01/2018
1	Overweight 01/2018
1	Congenital Abnormalities (Deformity) 01/2018
1	Laron Syndrome (Syndrome, Laron) 10/2017
1	Vitamin D Deficiency 04/2014
1	Imprinting Disorders 04/2014
1	Pancreatitis 01/2014
1	Vomiting 01/2014
1	Abdominal Pain (Pain, Abdominal) 01/2014
1	Hypercalcemia (Milk Alkali Syndrome) 01/2014
1	Hepatoblastoma 11/2011
1	Fetal Alcohol Spectrum Disorders 10/2011
1	Pseudohypoaldosteronism 11/2006
1	Ovarian Cysts (Ovarian Cyst) 05/2006
1	Thyroid Dysgenesis (Thyroid Agenesis) 11/2004
1	Phenylketonurias (Phenylketonuria) 03/2004

Drug/Important Bio-Agent (IBA)

7	Parathyroid Hormone (Parathormone)IBA 01/2020 - 01/2014
4	Proteins (Proteins, Gene)FDA Link 02/2021 - 01/2002
4	GTP-Binding Proteins (G-Protein)IBA 01/2016 - 04/2004
3	Hormones (Hormone)IBA 01/2019 - 02/2010
3	GonadotropinsIBA 03/2014 - 05/2006
2	SaltsIBA 01/2020 - 11/2006
2	Growth Hormone (Somatotropin)IBA 01/2020 - 01/2018
2	CalciumIBA 01/2020 - 01/2014
2	5-phenylpent-4-enyl-1-hydroperoxideIBA 01/2019 - 01/2018
2	Carrier Proteins (Binding Protein)IBA 04/2014 - 03/2014
2	Guanine NucleotidesIBA 04/2014 - 03/2014
2	Peptides (Polypeptides)IBA 04/2014 - 03/2014
2	Codon (Codons)IBA 05/2006 - 11/2004
1	oxidized low density lipoproteinIBA 03/2022
1	HDL LipoproteinsIBA 03/2022
1	LipidsIBA 03/2022
1	LDL Lipoproteins (beta Lipoproteins)IBA 03/2022
1	Thyroxine (Levothyroxine)FDA LinkGeneric 01/2022
1	Methimazole (Thiamazole)FDA LinkGeneric 01/2022
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 03/2021
1	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 03/2021
1	MineralsIBA 03/2021
1	Ectopic HormonesIBA 02/2021
1	Vasopressins (Vasopressin)IBA 01/2021
1	CreatinineIBA 01/2020
1	Phosphates (Orthophosphate)IBA 01/2020
1	Alkaline PhosphataseIBA 01/2020
1	SodiumIBA 01/2020
1	Teriparatide (Parathar)FDA Link 01/2020
1	calcium phosphateIBA 01/2020
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2019
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2019
1	Somatotropin Receptors (Growth Hormone Receptor)IBA 10/2017
1	Ketoconazole (Nizoral)FDA LinkGeneric 04/2015
1	Cyproterone AcetateIBA 04/2015
1	Leuprolide (Lupron)FDA LinkGeneric 04/2015
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 04/2014
1	LigandsIBA 04/2014
1	Vitamin D FDA LinkGeneric 01/2014
1	Lipase (Acid Lipase)FDA Link 01/2014
1	Amylases FDA Link 01/2014
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 11/2011
1	diethyl sulfateIBA 10/2011
1	Ethanol (Ethyl Alcohol)IBA 10/2011
1	ethyl glucuronideIBA 10/2011
1	Biomarkers (Surrogate Marker)IBA 10/2011
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 06/2011
1	Testosterone (Sustanon)FDA Link 06/2008
1	Estrogens (Estrogen)FDA Link 05/2006
1	Nonsense Codon (Nonsense Mutation)IBA 11/2004
1	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 03/2004
1	sapropterin (tetrahydrobiopterin)FDA Link 03/2004

Therapy/Procedure

2	Therapeutics 01/2020 - 11/2010
1	Mediterranean Diet 03/2022
1	Thyroidectomy 01/2022
1	Total Parenteral Nutrition 01/2020