Lista de obras - Luisa de Sanctis - Dominio Público Uruguay

Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches

scientific article published on 01 October 2001

Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.

artículo científico publicado en 2014

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

artículo científico publicado en 2002

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

artículo científico publicado en 2004

Fetal alcohol syndrome: new perspectives for an ancient and underestimated problem ⬇️

artículo científico publicado el 1 de octubre de 2011

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

artículo científico publicado en 2016

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction ⬇️

artículo científico publicado el 12 de abril de 2011

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

artículo científico publicado en 2018

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

artículo científico publicado en 1995

Genotype-phenotype correlation in dihydropteridine reductase deficiency

artículo científico publicado en 2000

Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism

scientific article published on 01 January 2014

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

artículo científico publicado en 2020

McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation

artículo científico publicado en 2006

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

article

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

scientific article published on 01 January 1996

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

artículo científico publicado en 2011

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

artículo científico publicado en 2015

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

artículo científico publicado en 1995

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors

artículo científico publicado en 2004

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients

scientific article published on 01 January 1996

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

article

Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.

artículo científico publicado en 2013

Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth

artículo científico publicado en 2010

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

artículo científico publicado en 2020

Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up

artículo científico publicado en 2008

Relationship between gastro-oesophageal reflux and gastric activity in newborns assessed by combined intraluminal impedance, pH metry and epigastric impedance

artículo científico publicado en 2006

SOX2 anophthalmia syndrome

artículo científico publicado en 2005

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

artículo científico publicado en 2016

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

artículo científico publicado en 2016

Thyroid abnormalities in children and adolescents with McCune-Albright syndrome.

artículo científico publicado en 2012

Lista de obras de Luisa de Sanctis

Accuracy of fine needle aspiration biopsy of thyroid nodules in detecting malignancy in childhood: comparison with conventional clinical, laboratory, and imaging approaches

Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

Fetal alcohol syndrome: new perspectives for an ancient and underestimated problem ⬇️

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction ⬇️

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

Genotype-phenotype correlation in dihydropteridine reductase deficiency

Iatrogenic acute pancreatitis due to hypercalcemia in a child with pseudohypoparathyroidism

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.

Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up

Relationship between gastro-oesophageal reflux and gastric activity in newborns assessed by combined intraluminal impedance, pH metry and epigastric impedance

SOX2 anophthalmia syndrome

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.

Thyroid abnormalities in children and adolescents with McCune-Albright syndrome.