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119 results

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Page 1
In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N. Ranieri C, et al. Among authors: lerone m. Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16. Neurogenetics. 2018. PMID: 29549527 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Ectodermal abnormalities in Kabuki syndrome.
Lerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC. Lerone M, et al. Am J Med Genet. 1997 Dec 19;73(3):263-6. doi: 10.1002/(sici)1096-8628(19971219)73:3<263::aid-ajmg6>3.0.co;2-t. Am J Med Genet. 1997. PMID: 9415681 Review.
Ectodermal dysplasias: not only 'skin' deep.
Priolo M, Silengo M, Lerone M, Ravazzolo R. Priolo M, et al. Among authors: lerone m. Clin Genet. 2000 Dec;58(6):415-30. doi: 10.1034/j.1399-0004.2000.580601.x. Clin Genet. 2000. PMID: 11149610 Review.
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R. Marini M, et al. Among authors: lerone m. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. Genet Med. 2010. PMID: 20531206 Free article.
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. Seri M, et al. Among authors: lerone m. Hum Mutat. 1997;9(3):243-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8. Hum Mutat. 1997. PMID: 9090527
New clinical findings in oculo-ectodermal syndrome.
Silengo M, Lerone M, Seri M, Priolo M, Jarre L. Silengo M, et al. Among authors: lerone m. Clin Dysmorphol. 2000 Jan;9(1):39-41. doi: 10.1097/00019605-200009010-00008. Clin Dysmorphol. 2000. PMID: 10649796
119 results