Luisa de Sanctis

Summary

Affiliation: University of Turin
Country: Italy

Publications

  1. ncbi request reprint Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome
    Luisa de Sanctis
    Department of Pediatrics, University of Torino, Regina Margherita Children s Hospital, Italy
    J Pediatr Endocrinol Metab 15:883-9. 2002
  2. ncbi request reprint Genetics of McCune-Albright syndrome
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Pediatr Endocrinol Metab 19:577-82. 2006
  3. doi request reprint Fetal alcohol syndrome: new perspectives for an ancient and underestimated problem
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Matern Fetal Neonatal Med 24:34-7. 2011
  4. ncbi request reprint Pseudohypoparathyroidism: history of the disease
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Pediatr Endocrinol Metab 19:627-33. 2006
  5. ncbi request reprint GH secretion in a cohort of children with pseudohypoparathyroidism type Ia
    L de Sanctis
    Department of Pediatrics, University of Turin, Piazza Polonia 94, 10126 Turin, Italy
    J Endocrinol Invest 30:97-103. 2007
  6. ncbi request reprint Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability
    Luisa de Sanctis
    Centro Neonati a Rischio, Department of Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy
    J Clin Endocrinol Metab 89:5669-74. 2004
  7. doi request reprint Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up
    Filippo De Luca
    Department of Pediatrics, University of Messina, 01924 Messina, Italy
    Eur J Endocrinol 158:921-7. 2008
  8. ncbi request reprint Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
    Luisa de Sanctis
    Department of Pediatric Sciences, 94, Piazza Polonia, 10126 Torino, Italy
    Pediatr Res 53:749-55. 2003
  9. ncbi request reprint Laparoscopic management of ovarian cysts in peripheral precocious puberty of McCune-Albright syndrome
    Roberto Gesmundo
    B Division of Pediatric Surgery, University of Turin, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:571-5. 2006
  10. ncbi request reprint Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Torino, Italy
    J Clin Endocrinol Metab 89:1650-5. 2004

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome
    Luisa de Sanctis
    Department of Pediatrics, University of Torino, Regina Margherita Children s Hospital, Italy
    J Pediatr Endocrinol Metab 15:883-9. 2002
    ....
  2. ncbi request reprint Genetics of McCune-Albright syndrome
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Pediatr Endocrinol Metab 19:577-82. 2006
    ....
  3. doi request reprint Fetal alcohol syndrome: new perspectives for an ancient and underestimated problem
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Matern Fetal Neonatal Med 24:34-7. 2011
    ....
  4. ncbi request reprint Pseudohypoparathyroidism: history of the disease
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Italy
    J Pediatr Endocrinol Metab 19:627-33. 2006
  5. ncbi request reprint GH secretion in a cohort of children with pseudohypoparathyroidism type Ia
    L de Sanctis
    Department of Pediatrics, University of Turin, Piazza Polonia 94, 10126 Turin, Italy
    J Endocrinol Invest 30:97-103. 2007
    ....
  6. ncbi request reprint Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability
    Luisa de Sanctis
    Centro Neonati a Rischio, Department of Pediatric Sciences, University of Torino, Piazza Polonia 94, 10126 Torino, Italy
    J Clin Endocrinol Metab 89:5669-74. 2004
    ..Thus, it is associated with thyroid dysgenesis in the proband and both euthyroidism and compensated hypothyroidism in her family. This suggests that other factors/genes may modulate phenotypic expression...
  7. doi request reprint Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up
    Filippo De Luca
    Department of Pediatrics, University of Messina, 01924 Messina, Italy
    Eur J Endocrinol 158:921-7. 2008
    ..Sexual precocity, common in girls, has been reported in only 15% of boys, and little is known on the long-term evolution of MAS in males...
  8. ncbi request reprint Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
    Luisa de Sanctis
    Department of Pediatric Sciences, 94, Piazza Polonia, 10126 Torino, Italy
    Pediatr Res 53:749-55. 2003
    ..Our results stress the usefulness of this approach to obtain a complete diagnosis, expand the GNAS1 mutation spectrum, and illustrate the wide mutation heterogeneity of PHP and PHP-Ia...
  9. ncbi request reprint Laparoscopic management of ovarian cysts in peripheral precocious puberty of McCune-Albright syndrome
    Roberto Gesmundo
    B Division of Pediatric Surgery, University of Turin, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:571-5. 2006
    ..It can be conducted with trans-umbilical laparoscopic ovarian cystectomy (TULOC) before 3 years of age and with traditional techniques afterwards...
  10. ncbi request reprint Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
    Luisa de Sanctis
    Department of Pediatric Sciences, University of Torino, Torino, Italy
    J Clin Endocrinol Metab 89:1650-5. 2004
    ..Further studies in PHP-Ia subjects without GNAS mutations and in other brachydactyly syndromes will determine whether the pattern described is also specific...
  11. ncbi request reprint Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations
    Francesca M Elli
    Department of Clinical Sciences and Community Health F M E, M F, A M B, E P, P B P, A s, G M, Endocrinology and Diabetology Unit, University of Milan, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca Granda Ospedale Maggiore Policlinico, and Center of Molecular and Genetic Epidemiology V B, L T, Department of Clinical Sciences and Community Health, Università di Milano and Fondazione Cà Granda Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Maggiore Policlinico, 20122 Milan, Italy and Department of Public Health and Pediatrics L d S, University of Turin, and Regina Margherita Children s Hospital, 10126 Turin, Italy
    J Clin Endocrinol Metab 99:E508-17. 2014
    ..Recently methylation defects have been detected also in patients with PHP and different degrees of AHO, indicating a molecular overlap between the two forms...
  12. ncbi request reprint Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR
    Francesca M Elli
    Department of Clinical Sciences and Community Health F M E, E P, P B, P B P, A s, G Ma, Endocrinology and Diabetology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda Ospedale Maggiore Policlinico, University of Milan, 20122 Milan, Italy Department of Public Health and Pediatrics L d S, University of Turin, Regina Margherita Children s Hospital, 10126 Turin, Italy and Department of Laboratory Medicine B P, G Mi, Cytogenetics and Molecular Biology Unit, Santa Maria degli Angeli Hospital, 33085 Pordenone, Italy
    J Clin Endocrinol Metab 99:E724-8. 2014
    ....
  13. ncbi request reprint Dihydropteridine reductase deficiency in man: from biology to treatment
    Alberto Ponzone
    Department of Pediatrics, University of Torino, Italy
    Med Res Rev 24:127-50. 2004
    ..Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article...
  14. ncbi request reprint McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation
    Teresa Arrigo
    Department of Pediatrics, University of Messina, Messina, Italy
    Horm Res 65:114-9. 2006
    ..Testis enlargement in McCune-Albright syndrome (MAS) is generally bilateral and associated with clinical and biochemical manifestations of sexual precocity...
  15. doi request reprint Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome
    Alessandro Mussa
    Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy
    Eur J Pediatr 170:1407-11. 2011
    ..We suggest monitoring neonatal αFP every 20 days in such cases...
  16. ncbi request reprint Adult height in patients treated for isolated growth hormone deficiency: role of birth weight
    Alessandra Di Cesare Merlone
    Department of Pediatrics, University of Pavia, Piazzale C Golgi 2, IT 27100 Pavia, Italy
    Horm Res 63:102-6. 2005
    ..25), GH dosage (p = 0.34) and therapy duration (p = 0.52). GH treatment with a standard dose in short IGHD children leads to a normalization of AH without any significant difference between SGA and AGA patients...
  17. ncbi request reprint Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors
    Giovanna Mantovani
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, 20122 Milan, Italy
    J Clin Endocrinol Metab 89:3007-9. 2004
    ..These data confirm the importance of Gsalpha imprinting in the pituitary gland and point out the high degree of tissue specificity of this phenomenon...
  18. ncbi request reprint SOX2 anophthalmia syndrome
    Nicola K Ragge
    Adnexal Service, Moorfields Eye Hospital, London, United Kingdom
    Am J Med Genet A 135:1-7; discussion 8. 2005
    ....
  19. ncbi request reprint Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1
    Felix G Riepe
    Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig Holstein, Schwanenweg 20, D 24105 Kiel, Germany
    J Clin Endocrinol Metab 91:4552-61. 2006
    ..Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting syndrome. Mutations in the NR3C2 gene coding for the mineralocorticoid receptor (MR) cause autosomal dominant PHA1...
  20. ncbi request reprint McCune-Albright syndrome: persistence of autonomous ovarian hyperfunction during adolescence and early adult age
    Patrizia Matarazzo
    Department of Pediatric Endocrinology, Regina Margherita Children s Hospital, Turin, Italy
    J Pediatr Endocrinol Metab 19:607-17. 2006
    ..We demonstrated the persistence of some ovarian autonomy, documented by hyperestrogenism and/or low or absent gonadotropin secretion and/or ovarian cysts...
  21. ncbi request reprint Gene symbol: SLC3A1. Disease: Cystinuria
    V Nunes
    Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Barcelona, Spain
    Hum Genet 116:541. 2005
  22. ncbi request reprint Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification
    Luca Dello Strologo
    Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
    J Am Soc Nephrol 13:2547-53. 2002
    ..Stone events do not correlate with amino acid urinary excretion. Renal function was clearly impaired in 17% of the patients...