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110 results

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Page 1
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.
Liu D, Mervis CB, Levin MD, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Osgood S, Freeman JA, Raja N, Merla G, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: bedeschi mf. medRxiv [Preprint]. 2024 Sep 18:2024.09.17.24313555. doi: 10.1101/2024.09.17.24313555. medRxiv. 2024. PMID: 39371121 Free PMC article. Preprint.
A long way to syndromic short stature.
Gaudioso F, Meossi C, Pezzani L, Grilli F, Silipigni R, Russo S, Masciadri M, Vimercati A, Marchisio PG, Bedeschi MF, Milani D. Gaudioso F, et al. Among authors: bedeschi mf. Ital J Pediatr. 2024 Sep 27;50(1):192. doi: 10.1186/s13052-024-01737-3. Ital J Pediatr. 2024. PMID: 39334216 Free PMC article.
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.
Picciolli I, Ratti A, Rinaldi B, Baban A, Iascone M, Francescato G, Cappelleri A, Magliozzi M, Novelli A, Parlapiano G, Colli AM, Persico N, Carugo S, Mosca F, Bedeschi MF. Picciolli I, et al. Among authors: bedeschi mf. Ital J Pediatr. 2024 Aug 26;50(1):156. doi: 10.1186/s13052-024-01678-x. Ital J Pediatr. 2024. PMID: 39183344 Free PMC article. Review.
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF. Cogliati F, et al. Among authors: bedeschi mf. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32976. doi: 10.1002/ajmg.b.32976. Epub 2024 Feb 22. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38385826
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: bedeschi mf. J Am Heart Assoc. 2024 Feb 6;13(3):e031377. doi: 10.1161/JAHA.123.031377. Epub 2024 Jan 31. J Am Heart Assoc. 2024. PMID: 38293922 Free PMC article.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: bedeschi mf. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: bedeschi mf. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
110 results