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Page 1
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B. Tornovsky S, et al. Among authors: de vries l. J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34. doi: 10.1210/jc.2004-1233. J Clin Endocrinol Metab. 2004. PMID: 15579781
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, de Vries L, Rubio-Cabezas O, Houghton JA, Edghill EL, Patch AM, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: de franco e, de vries l. Cell Metab. 2014 Jan 7;19(1):146-54. doi: 10.1016/j.cmet.2013.11.021. Cell Metab. 2014. PMID: 24411943 Free PMC article.
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
Pode-Shakked N, Blau A, Pode-Shakked B, Tiosano D, Weintrob N, Eyal O, Zung A, Levy-Khademi F, Tenenbaum-Rakover Y, Zangen D, Gillis D, Pinhas-Hamiel O, Loewenthal N, de Vries L, Landau Z, Rachmiel M, Abu-Libdeh A, Eliakim A, Strich D, Koren I, German A, Sack J, Almashanu S. Pode-Shakked N, et al. Among authors: de vries l. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3172-3180. doi: 10.1210/jc.2018-02468. J Clin Endocrinol Metab. 2019. PMID: 30865229
Primary Ovarian Insufficiency Nationwide Incidence Rate and Etiology Among Israeli Adolescents.
Gruber N, Kugler S, de Vries L, Brener A, Zung A, Eyal O, Rachmiel M, Koren I, Tenenbaum-Rakover Y, Hershkovitz E, Landau Z, Oren M, Eliakim A, Zangen D, German A, Majdoub H, Mazor-Aronovitch K, Modan-Moses D, Yeshayahu Y, Naugolni L, Levy-Shraga Y, Ben-Ami M, Brill G, Zuckerman-Levin N, Levy-Khademi F, Avnon-Ziv C, Tiosano D, Harel S, Kedem E, Segev-Becker A, Shoenfeld Y, Pinhas-Hamiel O. Gruber N, et al. Among authors: de vries l. J Adolesc Health. 2020 May;66(5):603-609. doi: 10.1016/j.jadohealth.2019.11.315. Epub 2020 Jan 25. J Adolesc Health. 2020. PMID: 31987720
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group. Busiah K, et al. Among authors: de kerdanet m, de vries l. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Lancet Diabetes Endocrinol. 2013. PMID: 24622368
997 results