Müller D - Search Results

1

[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel].

García Nieto V, Müller D, van der Vliet W, Claverie-Martín F. García Nieto V, et al. Among authors: muller d. Nefrologia. 2001 Sep-Oct;21(5):448-55. Nefrologia. 2001. PMID: 11795013 Free article. Spanish.

2

[Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter].

García Nieto V, Cantabrana A, Müller D, Claverie-Martín F. García Nieto V, et al. Among authors: muller d. Nefrologia. 2003 Nov-Dec;23(6):504-9. Nefrologia. 2003. PMID: 15002785 Free article. Spanish.

3

Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.

Claverie-Martín F, Vargas-Poussou R, Müller D, García-Nieto V. Claverie-Martín F, et al. Among authors: muller d. Eur J Hum Genet. 2015 Jun;23(6):889-. doi: 10.1038/ejhg.2014.176. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182135 Free PMC article. No abstract available.

4

Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria.

Müller D, Hoenderop JG, Vennekens R, Eggert P, Harangi F, Méhes K, Garcia-Nieto V, Claverie-Martin F, Os CH, Nilius B, J M Bindels R. Müller D, et al. Nephrol Dial Transplant. 2002 Sep;17(9):1614-20. doi: 10.1093/ndt/17.9.1614. Nephrol Dial Transplant. 2002. PMID: 12198212

5

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W. Müller D, et al. Am J Hum Genet. 2003 Dec;73(6):1293-301. doi: 10.1086/380418. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628289 Free PMC article.

6

Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).

Müller D, Hoenderop JG, Meij IC, van den Heuvel LP, Knoers NV, den Hollander AI, Eggert P, García-Nieto V, Claverie-Martín F, Bindels RJ. Müller D, et al. Genomics. 2000 Jul 1;67(1):48-53. doi: 10.1006/geno.2000.6203. Genomics. 2000. PMID: 10945469

7

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Among authors: muller d. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.

8

Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".

de Baaij JHF, Bockenhauer D, Claverie-Martin F, Hoenderop JGJ, Hoorn EJ, Houillier P, Knoers NVAM, Konrad M, Müller D, Nijenhuis T, Schlingmann KP, Vargas Poussou R. de Baaij JHF, et al. Among authors: muller d. Eur J Nutr. 2022 Dec;61(8):4231-4233. doi: 10.1007/s00394-022-03004-9. Epub 2022 Sep 27. Eur J Nutr. 2022. PMID: 36168067 No abstract available.

9

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.

Giménez-Mascarell P, Oyenarte I, Hardy S, Breiderhoff T, Stuiver M, Kostantin E, Diercks T, Pey AL, Ereño-Orbea J, Martínez-Chantar ML, Khalaf-Nazzal R, Claverie-Martin F, Müller D, Tremblay ML, Martínez-Cruz LA. Giménez-Mascarell P, et al. Among authors: muller d. J Biol Chem. 2017 Jan 20;292(3):786-801. doi: 10.1074/jbc.M116.759944. Epub 2016 Nov 29. J Biol Chem. 2017. PMID: 27899452 Free PMC article.

10

Structural, Compositional, and Morphological Interrelationships in Rocksalt (FeCoMnMgZn)O High Entropy Oxide Nanocrystals for Oxygen Evolution Electrocatalysis.

Dey GR, Teklu S, Shi Z, Hu M, Thompson KL, Soliman SS, Lord RW, Abruña HD, Muller DA, Schaak RE. Dey GR, et al. Among authors: muller da. J Am Chem Soc. 2025 Jul 4. doi: 10.1021/jacs.5c06732. Online ahead of print. J Am Chem Soc. 2025. PMID: 40614092

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