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31 results

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Page 1
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G. Guanciali-Franchi P, et al. Among authors: rinaldi mm. Am J Med Genet A. 2004 Jun 1;127A(2):144-8. doi: 10.1002/ajmg.a.20691. Am J Med Genet A. 2004. PMID: 15108201
Deletion of the SHOX gene in patients with short stature of unknown cause.
Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G. Morizio E, et al. Among authors: rinaldi mm. Am J Med Genet A. 2003 Jun 15;119A(3):293-6. doi: 10.1002/ajmg.a.20198. Am J Med Genet A. 2003. PMID: 12784295
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Petreschi F, Anzellotti MT, Pomilio M, Chiarelli F, Tumini S, Palka G. Stuppia L, et al. Among authors: rinaldi mm. J Med Genet. 2003 Feb;40(2):E11. doi: 10.1136/jmg.40.2.e11. J Med Genet. 2003. PMID: 12566529 Free PMC article. No abstract available.
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: rinaldi mm. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.
Pharmacological inhibition of N-Acylethanolamine acid amidase (NAAA) mitigates intestinal fibrosis through modulation of macrophage activity.
Nanì MF, Pagano E, De Cicco P, Lucariello G, Cattaneo F, Tropeano FP, Cicia D, Amico R, Raucci F, Ercolano G, Maione F, Rinaldi MM, Esposito F, Ammendola R, Luglio G, Capasso R, Makriyannis A, Petrosino S, Borrelli F, Romano B, Izzo AA. Nanì MF, et al. Among authors: rinaldi mm. J Crohns Colitis. 2024 Aug 30:jjae132. doi: 10.1093/ecco-jcc/jjae132. Online ahead of print. J Crohns Colitis. 2024. PMID: 39211986
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.
A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs.
Crinò A, Di Giorgio G, Livieri C, Grugni G, Beccaria L, Bosio L, Corrias A, Chiumello G, Trifirò G, Salvatoni A, Tonini G, Gargantini L, de Toni T, Valerio G, Ragusa L, Franzese A, Rinaldi MM, Spera S, Gattinara GC, Villani S, Iughetti L; Genetic Obesity Study Group; Italian Society of Pediatric Endocrinology and Diabetology. Crinò A, et al. Among authors: rinaldi mm. J Pediatr Endocrinol Metab. 2009 Oct;22(10):883-93. doi: 10.1515/jpem.2009.22.10.883. J Pediatr Endocrinol Metab. 2009. PMID: 20020576
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Among authors: rinaldi mm. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.
31 results