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Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review. Orphanet J Rare Dis. 2025 Sep 02; 20(1):473.
Boeri S, Piai M, Russo S, Alari V, Cogliati F, Simonetta D, Benke TA, Nobili L, Prato G. PMID: 40898246; PMCID: PMC12406456.
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PubMed Mentions: Fields:
Translation:
Humans
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Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080). Am J Med Genet A. 2025 Jul 18; e64188.
Leone P, Nisco A, de Gennaro L, Tolomeo M, Lorefice E, Petrosillo G, Russo S, De Giovanni D, Catacchio CR, Lepri FR, Ventura M, Simonetti S, Tummolo A, Barile M. PMID: 40678848.
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PubMed Mentions: Fields:
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Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):e932-e944.
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S. PMID: 39412159; PMCID: PMC11913091.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Dysfunctional mitochondrial bioenergetics sustains drug resistance in cancer cells. Am J Physiol Cell Physiol. 2025 Apr 01; 328(4):C1150-C1159.
Gnocchi D, Nikolic D, Russo S, Matrella ML, Paparella RR, Kumar S, Karki SS, Sabbà C, Cocco T, Lobasso S, Mazzocca A. PMID: 39853268.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data. Hum Genomics. 2024 11 05; 18(1):120.
Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genet, Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M. PMID: 39501379; PMCID: PMC11536923.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843.
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. PMID: 39205479; PMCID: PMC11637933.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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High OXPHOS efficiency in RA-FUdr-differentiated SH-SY5Y cells: involvement of cAMP signalling and respiratory supercomplexes. Sci Rep. 2024 03 28; 14(1):7411.
Matrella ML, Valletti A, Gigante I, De Rasmo D, Signorile A, Russo S, Lobasso S, Lobraico D, Dibattista M, Pacelli C, Cocco T. PMID: 38548913; PMCID: PMC10978939.
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Translation:
HumansCells
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Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep; 195(6):e32976.
Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF. PMID: 38385826.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome. Front Pediatr. 2023; 11:1250772.
Tovaglieri N, Russo S, Micaglio E, Corcelli A, Lobasso S. PMID: 37654687; PMCID: PMC10467424.
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PubMed Mentions:
4
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Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum. Front Genet. 2023; 14:1198821.
Vimercati A, Tannorella P, Orlandini E, Calzari L, Moro M, Guzzetti S, Selicorni A, Crippa M, Larizza L, Bonati MT, Russo S. PMID: 37529781; PMCID: PMC10387531.
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PubMed Mentions:
1
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Prenatal testing for imprinting disorders: A laboratory perspective. Prenat Diagn. 2023 07; 43(8):973-982.
Beygo J, Russo S, Tannorella P, Santen GWE, Dufke A, Schlaich E, Eggermann T. PMID: 37340544.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age. Front Endocrinol (Lausanne). 2023; 14:1172736.
Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N. PMID: 37008915; PMCID: PMC10050878.
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PubMed Mentions: Fields:
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Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age. Front Endocrinol (Lausanne). 2022; 13:975511.
Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N. PMID: 36093089; PMCID: PMC9451521.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay. J Pediatr Genet. 2024 Mar; 13(1):15-21.
Belghiti HD, Abbassi M, Sayel H, Ahakoud M, El Makhzen BE, Lee N, Russo S, Chaouki S, Bouguenouch L. PMID: 38567176; PMCID: PMC10984711.
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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele. Eur J Hum Genet. 2022 11; 30(11):1233-1238.
Sironi A, Bestetti I, Masciadri M, Tumiatti F, Crippa M, Pantaleoni C, Russo S, D'Arrigo S, Milani D, Larizza L, Finelli P. PMID: 35821519; PMCID: PMC9626456.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny. Clin Epigenetics. 2022 03 22; 14(1):43.
Tannorella P, Calzari L, Daolio C, Mainini E, Vimercati A, Gentilini D, Soli F, Pedrolli A, Bonati MT, Larizza L, Russo S. PMID: 35317853; PMCID: PMC8941822.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022 03 16; 14(1):41.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. PMID: 35296332; PMCID: PMC8928698.
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PubMed Mentions:
22 Fields:
Translation:
HumansCells
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SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features. Brain Sci. 2021 Dec 24; 12(1).
Epifanio R, Giorda R, Merlano MC, Zanotta N, Romaniello R, Marelli S, Russo S, Cogliati F, Bassi MT, Zucca C. PMID: 35053762; PMCID: PMC8773615.
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PubMed Mentions:
5
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Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series. Children (Basel). 2021 Dec 07; 8(12).
De Pellegrin M, Brogioni L, Laskow G, Barera G, Pajno R, Osimani S, Russo S, Marcucci L. PMID: 34943348; PMCID: PMC8700625.
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PubMed Mentions:
2
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Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders. Front Neurol. 2021; 12:711288.
Cogliati F, Forzano F, Russo S. PMID: 34367058; PMCID: PMC8341807.
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PubMed Mentions:
1
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Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients. Int J Mol Sci. 2021 May 28; 22(11).
Alari V, Scalmani P, Ajmone PF, Perego S, Avignone S, Catusi I, Lonati PA, Borghi MO, Finelli P, Terragni B, Mantegazza M, Russo S, Larizza L. PMID: 34071322; PMCID: PMC8197986.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes (Basel). 2021 04 17; 12(4).
Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S. PMID: 33920573; PMCID: PMC8073552.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation. Am J Med Genet A. 2020 12; 182(12):2982-2987.
Cacciatori E, Lelii M, Russo S, Alari V, Masciadri M, Guez S, Patria MF, Marchisio P, Milani D. PMID: 32954625.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. Clin Epigenetics. 2020 09 14; 12(1):139.
Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A. PMID: 32928291; PMCID: PMC7489023.
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PubMed Mentions:
36 Fields:
Translation:
HumansCells
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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation. Mol Neurobiol. 2020 Sep; 57(9):3685-3701.
Calzari L, Barcella M, Alari V, Braga D, Muñoz-Viana R, Barlassina C, Finelli P, Gervasini C, Barco A, Russo S, Larizza L. PMID: 32562237; PMCID: PMC7399686.
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PubMed Mentions:
13 Fields:
Translation:
HumansAnimalsCells
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Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome. J Clin Endocrinol Metab. 2020 04 01; 105(4).
Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S, Napoli F, Confalonieri L, Schiavone M, Thiabat HF, Casalini E, Morana G, Rossi A, Ramenghi LA, Maghnie M, Di Iorgi N. PMID: 31665337.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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DNA Methylation in the Diagnosis of Monogenic Diseases. Genes (Basel). 2020 03 26; 11(4).
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. PMID: 32224912; PMCID: PMC7231024.
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PubMed Mentions:
20 Fields:
Translation:
HumansCells
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Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis. Int J Mol Sci. 2019 Dec 26; 21(1).
De Rasmo D, Signorile A, De Leo E, Polishchuk EV, Ferretta A, Raso R, Russo S, Polishchuk R, Emma F, Bellomo F. PMID: 31888107; PMCID: PMC6982165.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation. Genome Med. 2019 12 17; 11(1):84.
Demond H, Anvar Z, Jahromi BN, Sparago A, Verma A, Davari M, Calzari L, Russo S, Jahromi MA, Monk D, Andrews S, Riccio A, Kelsey G. PMID: 31847873; PMCID: PMC6918611.
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PubMed Mentions:
37 Fields:
Translation:
HumansCells
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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. Clin Epigenetics. 2019 12 11; 11(1):190.
Sparago A, Verma A, Patricelli MG, Pignata L, Russo S, Calzari L, De Francesco N, Del Prete R, Palumbo O, Carella M, Mackay DJG, Rezwan FI, Angelini C, Cerrato F, Cubellis MV, Riccio A. PMID: 31829238; PMCID: PMC6907351.
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PubMed Mentions:
19 Fields:
Translation:
Humans
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Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes. Front Genet. 2019; 10:955.
Crippa M, Bonati MT, Calzari L, Picinelli C, Gervasini C, Sironi A, Bestetti I, Guzzetti S, Bellone S, Selicorni A, Mussa A, Riccio A, Ferrero GB, Russo S, Larizza L, Finelli P. PMID: 31749829; PMCID: PMC6843062.
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PubMed Mentions:
11
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Human Ovarian Cancer Tissue Exhibits Increase of Mitochondrial Biogenesis and Cristae Remodeling. Cancers (Basel). 2019 Sep 12; 11(9).
Signorile A, De Rasmo D, Cormio A, Musicco C, Rossi R, Fortarezza F, Palese LL, Loizzi V, Resta L, Scillitani G, Cicinelli E, Simonetti F, Ferretta A, Russo S, Tufaro A, Cormio G. PMID: 31547300; PMCID: PMC6770021.
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PubMed Mentions:
38
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Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations. Stem Cell Res. 2019 10; 40:101553.
Alari V, Russo S, Rovina D, Garzo M, Crippa M, Calzari L, Scalera C, Concolino D, Castiglioni E, Giardino D, Prosperi E, Finelli P, Gervasini C, Gowran A, Larizza L. PMID: 31491690.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes. Int J Mol Sci. 2019 Jul 24; 20(15).
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. PMID: 31344879; PMCID: PMC6696386.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. Pathobiology. 2019; 86(4):217-224.
Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB. PMID: 31238307.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. Genet Res (Camb). 2019 03 04; 101:e3.
Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T. PMID: 30829192; PMCID: PMC7044970.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype. Eur J Med Genet. 2020 Jan; 63(1):103620.
Dorval S, Masciadri M, Mathot M, Russo S, Revencu N, Larizza L. PMID: 30716475.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features. Front Genet. 2018; 9:600.
Cirello V, Giorgini V, Castronovo C, Marelli S, Mainini E, Sironi A, Recalcati MP, Pessina M, Giardino D, Larizza L, Persani L, Finelli P, Russo S, Fugazzola L. PMID: 30555519; PMCID: PMC6284021.
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PubMed Mentions:
4
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Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS. Front Neurol. 2018; 9:967.
Masciadri M, Ficcadenti A, Milani D, Cogliati F, Divizia MT, Larizza L, Russo S. PMID: 30538663; PMCID: PMC6277459.
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PubMed Mentions:
3
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Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. Acta Neuropathol. 2019 01; 137(1):71-88.
Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS. PMID: 30382371; PMCID: PMC6371791.
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PubMed Mentions:
22 Fields:
Translation:
HumansCells
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Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort. Am J Med Genet A. 2018 09; 176(9):1865-1871.
Decimi V, Parma B, Panceri R, Fossati C, Mariani M, Russo S, Gervasini CC, Cheli M, Cereda A, Selicorni A. PMID: 30240081.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*). Stem Cell Res. 2018 07; 30:175-179.
Alari V, Russo S, Rovina D, Gowran A, Garzo M, Crippa M, Mazzanti L, Scalera C, Prosperi E, Giardino D, Gervasini C, Finelli P, Pompilio G, Larizza L. PMID: 29944992.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability. Stem Cell Res. 2018 07; 30:130-140.
Alari V, Russo S, Terragni B, Ajmone PF, Sironi A, Catusi I, Calzari L, Concolino D, Marotta R, Milani D, Giardino D, Mantegazza M, Gervasini C, Finelli P, Larizza L. PMID: 29883886.
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PubMed Mentions:
17 Fields:
Translation:
HumansCells
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Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers. Ann Clin Transl Neurol. 2018 May; 5(5):583-597.
Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Öijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE. PMID: 29761121; PMCID: PMC5945959.
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PubMed Mentions:
36 Fields:
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Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model. Int J Mol Sci. 2018 Apr 05; 19(4).
Guzzetti S, Calzari L, Buccarello L, Cesari V, Toschi I, Cattaldo S, Mauro A, Pregnolato F, Mazzola SM, Russo S. PMID: 29621152; PMCID: PMC5979575.
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PubMed Mentions:
10 Fields:
Translation:
Animals
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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Epigenetics. 2018; 13(2):117-121.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z, Nomenclature group of the European Network for Human Congenital Imprinting Disorders. PMID: 27911167; PMCID: PMC5873357.
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PubMed Mentions:
45 Fields:
Translation:
HumansAnimalsCells
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Ab initio calculation of energy levels for phosphorus donors in silicon. Sci Rep. 2017 07 20; 7(1):6010.
Smith JS, Budi A, Per MC, Vogt N, Drumm DW, Hollenberg LCL, Cole JH, Russo SP. PMID: 28729674; PMCID: PMC5519722.
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PubMed Mentions:
1 Fields:
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Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis. Neurology. 2017 01 31; 88(5):e38-e41.
Russo SP, Fossati B, Toffetti M, Lanzone J, Cardani R, Meola G. PMID: 28138086.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability. J Hum Genet. 2016 Apr; 61(4):283-93.
Moncini S, Castronovo P, Murgia A, Russo S, Bedeschi MF, Lunghi M, Selicorni A, Bonati MT, Riva P, Venturin M. PMID: 26657932.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors. Sci Rep. 2015 Oct 20; 5:15454.
Roversi G, Picinelli C, Bestetti I, Crippa M, Perotti D, Ciceri S, Saccheri F, Collini P, Poliani PL, Catania S, Peissel B, Pagni F, Russo S, Peterlongo P, Manoukian S, Finelli P. PMID: 26482194; PMCID: PMC4612309.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma? Am J Med Genet A. 2016 Jan; 170A(1):130-4.
Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M, Gervasini C, Russo S, Biondi A, Jankovic M, Selicorni A. PMID: 26437745.
View in:
PubMed Mentions:
3 Fields:
Translation:
Humans
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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2016 Feb; 24(2):183-90.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. PMID: 25898929; PMCID: PMC4717210.
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PubMed Mentions:
68 Fields:
Translation:
HumansCells
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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. Mol Cytogenet. 2015; 8:20.
Crippa M, Rusconi D, Castronovo C, Bestetti I, Russo S, Cereda A, Selicorni A, Larizza L, Finelli P. PMID: 25838844; PMCID: PMC4383199.
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PubMed Mentions:
13
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Antiepileptic drugs in Rett Syndrome. Eur J Paediatr Neurol. 2015 Jul; 19(4):446-52.
Pintaudi M, Calevo MG, Vignoli A, Baglietto MG, Hayek Y, Traverso M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E. PMID: 25814391.
View in:
PubMed Mentions:
11 Fields:
Translation:
Humans
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The drop that spilled the cup: acute myocardial infarction in a young woman with underlying thrombophilic polymorphisms and oral contraceptive use. Case Rep Cardiol. 2014; 2014:249715.
Russo N, Franzì E, Capilli G, Patané AA, Russo SP, Evola R. PMID: 25587456; PMCID: PMC4284985.
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PubMed Mentions:
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Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale. Res Dev Disabil. 2014 Nov; 35(11):2976-86.
Fabio RA, Colombo B, Russo S, Cogliati F, Masciadri M, Foglia S, Antonietti A, Tavian D. PMID: 25124696.
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15 Fields:
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Humans
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Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls. Epigenetics. 2014 Jul; 9(7):973-9.
Parenti I, Rovina D, Masciadri M, Cereda A, Azzollini J, Picinelli C, Limongelli G, Finelli P, Selicorni A, Russo S, Gervasini C, Larizza L. PMID: 24756084; PMCID: PMC4143412.
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PubMed Mentions:
2 Fields:
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HumansCells
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Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Epigenetics. 2013 Oct; 8(10):1053-60.
Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M. PMID: 23917791; PMCID: PMC3891686.
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PubMed Mentions:
26 Fields:
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HumansCells
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Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype. Eur J Med Genet. 2013 Mar; 56(3):138-43.
Gervasini C, Parenti I, Picinelli C, Azzollini J, Masciadri M, Cereda A, Selicorni A, Russo S, Finelli P, Larizza L. PMID: 23313159.
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PubMed Mentions:
10 Fields:
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HumansCells
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Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res. 2009; 17(6):763-71.
Castronovo P, Gervasini C, Cereda A, Masciadri M, Milani D, Russo S, Selicorni A, Larizza L. PMID: 19690971.
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PubMed Mentions:
34 Fields:
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HumansCells
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Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. Genet Med. 2007 Mar; 9(3):188-94.
Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L. PMID: 17413424.
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PubMed Mentions:
4 Fields:
Translation:
Humans