Sacco MC - Search Results

1

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Palumbo P, Petracca A, Maggi R, Biagini T, Nardella G, Sacco MC, Di Schiavi E, Carella M, Micale L, Castori M. Palumbo P, et al. Among authors: sacco mc. Eur J Hum Genet. 2019 Jul;27(7):1113-1120. doi: 10.1038/s41431-019-0350-4. Epub 2019 Feb 20. Eur J Hum Genet. 2019. PMID: 30787447 Free PMC article.

2

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M. Delvecchio M, et al. Clin Genet. 2013 Jan;83(1):83-7. doi: 10.1111/j.1399-0004.2012.01856.x. Epub 2012 Mar 26. Clin Genet. 2013. PMID: 22335469

3

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Di Stolfo G, Accadia M, Mastroianno S, Leone MP, Palumbo O, Palumbo P, Potenza D, Maccarone P, Sacco M, Russo A, Carella M. Di Stolfo G, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e855. doi: 10.1002/mgg3.855. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347270 Free PMC article.

4

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E. Castori M, et al. Am J Med Genet A. 2019 Feb;179(2):317-321. doi: 10.1002/ajmg.a.61006. Epub 2018 Dec 18. Am J Med Genet A. 2019. PMID: 30561154

5

Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype.

Zelante L, Germano M, Sacco M, Calvano S. Zelante L, et al. Am J Med Genet A. 2006 Feb 15;140(4):383-4. doi: 10.1002/ajmg.a.31064. Am J Med Genet A. 2006. PMID: 16411191

6

Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.

Delvecchio M, Di Paola R, Mangiacotti D, Sacco M, Menzaghi C, Trischitta V. Delvecchio M, et al. Ital J Pediatr. 2014 Jun 19;40:58. doi: 10.1186/1824-7288-40-58. Ital J Pediatr. 2014. PMID: 24947580 Free PMC article. No abstract available.

7

Early Signs of Autonomic Nervous System Imbalance in Children with High Cardiometabolic Risk.

Rutigliano I, Cringoli S, Verrotti di Pianella V, Maccarone P, Pettoello-Mantovani M, Sacco M. Rutigliano I, et al. Turk Arch Pediatr. 2022 Sep;57(5):498-505. doi: 10.5152/TurkArchPediatr.XXX. Turk Arch Pediatr. 2022. PMID: 36062439 Free PMC article.

8

EEG Patterns in Patients with Prader-Willi Syndrome.

Elia M, Rutigliano I, Sacco M, Madeo SF, Wasniewska M, Li Pomi A, Trifirò G, Di Bella P, De Lucia S, Vetri L, Iughetti L, Delvecchio M. Elia M, et al. Brain Sci. 2021 Aug 6;11(8):1045. doi: 10.3390/brainsci11081045. Brain Sci. 2021. PMID: 34439664 Free PMC article.

9

The Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome.

Licenziati MR, Bacchini D, Crinò A, Grugni G, Fintini D, Osimani S, Ragusa L, Sacco M, Iughetti L, De Sanctis L, Franzese A, Wasniewska MG, Faienza MF, Delvecchio M, Esposito C, Valerio G. Licenziati MR, et al. Front Pediatr. 2022 Feb 14;10:829486. doi: 10.3389/fped.2022.829486. eCollection 2022. Front Pediatr. 2022. PMID: 35237541 Free PMC article.

10

Metabolic syndrome in children with Prader-Willi syndrome: the effect of obesity.

Brambilla P, Crinò A, Bedogni G, Bosio L, Cappa M, Corrias A, Delvecchio M, Di Candia S, Gargantini L, Grechi E, Iughetti L, Mussa A, Ragusa L, Sacco M, Salvatoni A, Chiumello G, Grugni G; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Brambilla P, et al. Nutr Metab Cardiovasc Dis. 2011 Apr;21(4):269-76. doi: 10.1016/j.numecd.2009.10.004. Epub 2010 Jan 20. Nutr Metab Cardiovasc Dis. 2011. PMID: 20089384

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