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Page 1
Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties.
Descatoire M, Weller S, Irtan S, Sarnacki S, Feuillard J, Storck S, Guiochon-Mantel A, Bouligand J, Morali A, Cohen J, Jacquemin E, Iascone M, Bole-Feysot C, Cagnard N, Weill JC, Reynaud CA. Descatoire M, et al. Among authors: iascone m. J Exp Med. 2014 May 5;211(5):987-1000. doi: 10.1084/jem.20132203. Epub 2014 Apr 14. J Exp Med. 2014. PMID: 24733829 Free PMC article.
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.
Rodari G, Villa R, Porro M, Gangi S, Iascone M, Elli F, Giacchetti F, Profka E, Collini V, Dall'Antonia A, Arosio M, Mantovani G, Bedeschi MF, Giavoli C. Rodari G, et al. Among authors: iascone m. Eur J Hum Genet. 2023 Feb;31(2):195-201. doi: 10.1038/s41431-022-01220-9. Epub 2022 Nov 9. Eur J Hum Genet. 2023. PMID: 36348013 Free PMC article.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Among authors: iascone m. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: iascone m. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L. Coccia E, et al. Among authors: iascone m. Genes (Basel). 2023 Feb 22;14(3):549. doi: 10.3390/genes14030549. Genes (Basel). 2023. PMID: 36980822 Free PMC article.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: iascone m. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577 Free PMC article.
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore JB, Bhuiyan ZA, Coviello DA, du Sart D, Edwards M, Iascone M, Morris-Rosendahl DJ, Sheils K, van Slegtenhorst M, Thomson KL. Hayesmoore JB, et al. Among authors: iascone m. Eur J Hum Genet. 2023 Sep;31(9):1003-1009. doi: 10.1038/s41431-023-01421-w. Epub 2023 Jul 13. Eur J Hum Genet. 2023. PMID: 37443332 Free PMC article. Review.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ. Crotti L, et al. Among authors: iascone m. Eur Heart J. 2023 Sep 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418. Eur Heart J. 2023. PMID: 37528649 Free PMC article.
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C. Mauri A, et al. Among authors: iascone m. Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023. Front Genet. 2023. PMID: 36936426 Free PMC article.
190 results