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Konrad J. M. paris
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Konrad J. M. Papis
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Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4.
J Am Soc Nephrol. 2022.
PMID: 34607911
Free PMC article.
RESULTS: Genetic investigations revealed four mtDNA variants in 13 families: m.591C>T (n=7), m.616T>C (n=1), m.643A>G (n=1) (all in MT-TF), and m.4291T>C (n=4, in MT-TI). Variants were near homoplasmic in affected individuals. All variants …
RESULTS: Genetic investigations revealed four mtDNA variants in 13 families: m.591C>T (n=7), m.616T>C (n=1), m.64 …
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Viering DHHM, Hureaux M, Neveling K, Latta F, Kwint M, Blanchard A, Konrad M, Bindels RJM, Schlingmann KP, Vargas-Poussou R, de Baaij JHF.
Viering DHHM, et al.
J Am Soc Nephrol. 2023 Feb 1;34(2):333-345. doi: 10.1681/ASN.2022050627. Epub 2022 Nov 9.
J Am Soc Nephrol. 2023.
PMID: 36302598
Free PMC article.
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Female Sex and Angiotensin-Converting Enzyme (ACE) Insertion/Deletion Polymorphism Amplify the Effects of Adiposity on Blood Pressure.
Chiriacò M, Tricò D, Leonetti S, Petrie JR, Balkau B, Højlund K, Pataky Z, Nilsson PM, Natali A; RISC Investigators*.
Chiriacò M, et al.
Hypertension. 2022 Jan;79(1):36-46. doi: 10.1161/HYPERTENSIONAHA.121.18048. Epub 2021 Oct 25.
Hypertension. 2022.
PMID: 34689596
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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.
Laghmani K, et al.
N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.
N Engl J Med. 2016.
PMID: 27120771
Free article.
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