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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Baga M, Ivanovski I, Contrò G, Caraffi SG, Spagnoli C, Cesaroni CA, Neri A, Peluso F, Pollazzon M, Garavelli L, Fusco C. Baga M, et al. Among authors: pollazzon m. Mol Syndromol. 2024 Feb;15(1):63-70. doi: 10.1159/000530410. Epub 2023 Sep 8. Mol Syndromol. 2024. PMID: 38357260 Free PMC article.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: pollazzon m. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.
Bonasoni MP, Comitini G, Pati M, Bizzarri V, Barbieri V, Marinelli M, Caraffi SG, Zuntini R, Pollazzon M, Palicelli A, Garavelli L. Bonasoni MP, et al. Among authors: pollazzon m. Fetal Pediatr Pathol. 2023 Dec;42(6):979-989. doi: 10.1080/15513815.2023.2261043. Epub 2023 Nov 22. Fetal Pediatr Pathol. 2023. PMID: 37747279
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: pollazzon m. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. Review.
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
Cesaroni CA, Pollazzon M, Mancini C, Rizzi S, Cappelletti C, Pizzi S, Frattini D, Spagnoli C, Caraffi SG, Zuntini R, Trimarchi G, Niceta M, Radio FC, Tartaglia M, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: pollazzon m. Front Neurol. 2023 Jul 14;14:1207176. doi: 10.3389/fneur.2023.1207176. eCollection 2023. Front Neurol. 2023. PMID: 37521304 Free PMC article.
50 results