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Page 1
[The treatment of hypomagnesemia].
Cornelissen EA, Knoers NV. Cornelissen EA, et al. Ned Tijdschr Geneeskd. 2002 Dec 7;146(49):2387; author reply 2387-8. Ned Tijdschr Geneeskd. 2002. PMID: 12510410 Dutch. No abstract available.
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: cornelissen ea. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. Arts HH, et al. Among authors: cornelissen ea. J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378380
AGORA, a data- and biobank for birth defects and childhood cancer.
van Rooij IA, van der Zanden LF, Bongers EM, Renkema KY, Wijers CH, Thonissen M, Dokter EM, Marcelis CL, de Blaauw I, Wijnen MH, Hoogerbrugge PM, Bokkerink JP, Schreuder MF, Koster-Kamphuis L, Cornelissen EA, Kapusta L, van Heijst AF, Liem KD, de Gier RP, Kuijpers-Jagtman AM, Admiraal RJ, Bergé SJ, van der Biezen JJ, Verdonck A, Vander Poorten V, Hens G, Roosenboom J, Lilien MR, de Jong TP, Broens P, Wijnen R, Brooks A, Franke B, Brunner HG, Carels CE, Knoers NV, Feitz WF, Roeleveld N. van Rooij IA, et al. Among authors: cornelissen ea. Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):675-84. doi: 10.1002/bdra.23512. Epub 2016 May 6. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27150573
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY. Nicolaou N, et al. Among authors: cornelissen ea. Kidney Int. 2016 Feb;89(2):476-86. doi: 10.1038/ki.2015.319. Kidney Int. 2016. PMID: 26489027 Free article.
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.
Bongers EMHF, Shelton LM, Milatz S, Verkaart S, Bech AP, Schoots J, Cornelissen EAM, Bleich M, Hoenderop JGJ, Wetzels JFM, Lugtenberg D, Nijenhuis T. Bongers EMHF, et al. J Am Soc Nephrol. 2017 Oct;28(10):3118-3128. doi: 10.1681/ASN.2016080881. Epub 2017 Jul 3. J Am Soc Nephrol. 2017. PMID: 28674042 Free PMC article.
74 results