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143 results

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An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C. Zhu Z, et al. Among authors: molin a. Kidney Int. 2024 May;105(5):1058-1076. doi: 10.1016/j.kint.2024.01.031. Epub 2024 Feb 15. Kidney Int. 2024. PMID: 38364990
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: molin a. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion.
Tretti Parenzan C, Molin AD, Longo G, Gaffo E, Buratin A, Cani A, Boldrin E, Serafin V, Guglielmelli P, Vannucchi AM, Cazzaniga G, Biondi A, Locatelli F, Meyer LH, Buldini B, Te Kronnie G, Bresolin S, Bortoluzzi S. Tretti Parenzan C, et al. Among authors: molin ad. Blood Adv. 2024 Mar 12;8(5):1305-1319. doi: 10.1182/bloodadvances.2023011291. Blood Adv. 2024. PMID: 38029383 Free PMC article.
Postoperative pulmonary complications and mortality after major abdominal surgery. An observational multicenter prospective study.
Piccioni F, Spagnesi L, Pelosi P, Bignami E, Guarnieri M, Fumagalli L, Polati E, Schweiger V, Comi D, D'Andrea R, DI Marco P, Spadaro S, Antonelli S, Sollazzi L, Mirabella L, Schiavoni M, Laici C, Marelli JA, Fabiani F, Ball L, Roasio A, Servillo G, Franchi M, Murino P, Irone M, Parrini V, DE Cosmo G, Cornara G, Ruberto F, Pasta G, Ferrari L, Greco M, Cecconi M, Della Rocca G; PPCs Investigators Group. Piccioni F, et al. Minerva Anestesiol. 2023 Nov;89(11):964-976. doi: 10.23736/S0375-9393.23.17382-2. Epub 2023 Sep 5. Minerva Anestesiol. 2023. PMID: 37671537
143 results