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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160.
Genes (Basel). 2023.
PMID: 36672900
Free PMC article.
Review.
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype.
Buonuomo PS, Mastrogiorgio G, Alfieri P, Terracciano A, Cesario C, Rana I, Macchiaiolo M, Veronika Gonfiantini M, Vecchio D, Cristina Digilio M, Lisa Dentici M, Cumbo F, Novelli A, Bartuli A.
Buonuomo PS, et al. Among authors: cristina digilio m.
Clin Dysmorphol. 2022 Apr 1;31(2):74-78. doi: 10.1097/MCD.0000000000000408.
Clin Dysmorphol. 2022.
PMID: 35238837
No abstract available.
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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M.
Flex E, et al. Among authors: cristina digilio m.
Hum Mol Genet. 2014 Aug 15;23(16):4315-27. doi: 10.1093/hmg/ddu148. Epub 2014 Apr 4.
Hum Mol Genet. 2014.
PMID: 24705357
Free PMC article.
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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.
Fusco C, et al. Among authors: cristina digilio m.
Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.
Eur J Hum Genet. 2014.
PMID: 23756441
Free PMC article.
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A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A.
Guida V, et al. Among authors: cristina digilio m.
Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20.
Eur J Hum Genet. 2013.
PMID: 22713807
Free PMC article.
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