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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346.
Genes (Basel). 2024.
PMID: 38540405
Free PMC article.
Review.
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Saracino A, Totaro M, Politano D, DE Giorgis V, Gana S, Papalia G, Pichiecchio A, Plumari M, Rognone E, Varesio C, Orcesi S.
Saracino A, et al. Among authors: politano d.
Neuropediatrics. 2024 Apr;55(2):129-134. doi: 10.1055/s-0044-1779613. Epub 2024 Feb 16.
Neuropediatrics. 2024.
PMID: 38365198
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Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Carrara A, Mangiarotti C, Pasca L, Politano D, Abrusco FD', Barbero VC, Carpani A, Borgatti R, Pichiecchio A, Valente EM, Romaniello R.
Carrara A, et al. Among authors: politano d.
Cerebellum. 2024 Feb 9. doi: 10.1007/s12311-024-01661-6. Online ahead of print.
Cerebellum. 2024.
PMID: 38334877
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Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Politano D, D'Abrusco F, Pasca L, Ferraro F, Gana S, Garau J, Zanaboni MP, Rognone E, Pichiecchio A, Borgatti R, Valente EM, De Giorgis V, Romaniello R.
Politano D, et al.
Am J Med Genet A. 2024 Jun;194(6):e63555. doi: 10.1002/ajmg.a.63555. Epub 2024 Feb 7.
Am J Med Genet A. 2024.
PMID: 38326731
Review.
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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ.
David C, et al. Among authors: politano d.
J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6.
J Clin Immunol. 2024.
PMID: 38324161
Free PMC article.
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Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
Politano D, Catalano G, Pezzotti E, Varesio C, Sirchia F, Casella A, Rognone E, Pichiecchio A, Borgatti R, Orcesi S.
Politano D, et al.
Genes (Basel). 2023 Sep 19;14(9):1817. doi: 10.3390/genes14091817.
Genes (Basel). 2023.
PMID: 37761957
Free PMC article.
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A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R.
Pasca L, et al. Among authors: politano d.
Neuropediatrics. 2024 Jun;55(3):191-195. doi: 10.1055/a-2114-4387. Epub 2023 Jun 21.
Neuropediatrics. 2024.
PMID: 37343586
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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
Politano D, Gana S, Pezzotti E, Berardinelli A, Pasca L, Carmen Barbero V, Pichiecchio A, Maria Valente E, Errichiello E.
Politano D, et al.
Brain Dev. 2023 Mar;45(3):179-184. doi: 10.1016/j.braindev.2022.11.004. Epub 2022 Nov 26.
Brain Dev. 2023.
PMID: 36446697
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