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Page 1
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 Jul;194(7):e63531. doi: 10.1002/ajmg.a.63531. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421086 Review.
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
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 Free PMC article.
Erratum to "An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)." Kidney International 2023;105:1058-1076.
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 Jul;106(1):159. doi: 10.1016/j.kint.2024.05.005. Kidney Int. 2024. PMID: 38906648 Free article. No abstract available.
Associations of intraoperative end-tidal CO2 levels with postoperative outcome-secondary analysis of a worldwide observational study.
Nasa P, van Meenen DMP, Paulus F, de Abreu MG, Bossers SM, Schober P, Schultz MJ, Neto AS, Hemmes SNT; LAS VEGAS-investigators; PROVE Network; ESAIC CTN; LAS VEGAS collaborators. Nasa P, et al. J Clin Anesth. 2024 Dec 19;101:111728. doi: 10.1016/j.jclinane.2024.111728. Online ahead of print. J Clin Anesth. 2024. PMID: 39705739 Free article.
Sex dependence of postoperative pulmonary complications - A post hoc unmatched and matched analysis of LAS VEGAS.
Vermeulen TD, Hol L, Swart P, Hiesmayr M, Mills GH, Putensen C, Schmid W, Serpa Neto A, Severgnini P, Vidal Melo MF, Wrigge H, Hollmann MW, Gama de Abreu M, Schultz MJ, Hemmes SN, van Meenen DM; LAS VEGAS Collaborators group; PROVEnet; Clinical Trial Network of the European Society of Anaesthesiology. Vermeulen TD, et al. J Clin Anesth. 2024 Dec;99:111565. doi: 10.1016/j.jclinane.2024.111565. Epub 2024 Sep 23. J Clin Anesth. 2024. PMID: 39316931 Free article.
151 results