List of works by 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

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.

scientific article published on 17 January 2014

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

scientific article published in October 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

scientific article published on 01 November 2004

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

scientific article

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

scientific article published on 25 April 2018

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

scientific article

Genotype-phenotype correlation in dihydropteridine reductase deficiency

scientific article published on 01 June 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

scientific article published on 01 December 2020

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

scientific article published on 2 February 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

scientific article published on 30 March 2011

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

scientific article published on 16 January 2015

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

scientific article published on 01 January 1995

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

scientific article published in June 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.

scientific article published in January 2013

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

scientific article published on 18 August 2010

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

scientific article published on 05 August 2020

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

scientific article published in June 2008

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

scientific article published on 01 May 2006

SOX2 anophthalmia syndrome.

scientific article published in May 2005

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

scientific article

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

scientific article published on 18 July 2016

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

scientific article published on 20 September 2012

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