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A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus.
Hinrichs GR, Baltzer S, Pallien T, Svenningsen P, Dalgaard EB, Hertz JM, Bistrup C, Jensen BL, Klussmann E. Hinrichs GR, et al. Among authors: hertz jm. Kidney Int Rep. 2022 Jul 12;7(10):2289-2294. doi: 10.1016/j.ekir.2022.07.001. eCollection 2022 Oct. Kidney Int Rep. 2022. PMID: 36217530 Free PMC article. No abstract available.
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL. Rasmussen M, et al. Among authors: hertz jm. Clin Genet. 2018 Apr;93(4):860-869. doi: 10.1111/cge.13185. Epub 2018 Feb 23. Clin Genet. 2018. PMID: 29194579
Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM, Campeau PM, Ghoumid J, Kibaek M, Larsen MJ, Smol T, Albaba S, Hertz JM, Balasubramanian M. Yates TM, et al. Among authors: hertz jm. Clin Genet. 2020 Dec;98(6):622-625. doi: 10.1111/cge.13841. Epub 2020 Sep 20. Clin Genet. 2020. PMID: 32954510 Free article. No abstract available.
[Genome sequencing--clinical use].
Hertz JM, Gerdes AM, Grønskov K, Thomassen M, Vogel I. Hertz JM, et al. Ugeskr Laeger. 2013 Mar 18;175(12):818. Ugeskr Laeger. 2013. PMID: 23582824 Danish. No abstract available.
A novel splicing mutation in the V2 vasopressin receptor.
Kamperis K, Siggaard C, Herlin T, Nathan E, Hertz JM, Rittig S. Kamperis K, et al. Among authors: hertz jm. Pediatr Nephrol. 2000 Nov;15(1-2):43-9. doi: 10.1007/s004670000431. Pediatr Nephrol. 2000. PMID: 11095010
157 results