PMC Articles for MedGen (Select 1675904) - PMC

Select item 82480581.

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

Gijs A. C. Franken, Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, María‐Isabel Tejada, Hester Y. Kroes, Rutger A. J. Nievelstein, Elise Brimble, Maria Ruzhnikov, Felix Claverie‐Martin, Maria Szczepańska, Martin Ćuk, Femke Latta, Martin Konrad, Luis A. Martínez‐Cruz, René J. M. Bindels, Joost G. J. Hoenderop, Karl‐Peter Schlingmann, Jeroen H. F. de Baaij

Hum Mutat. 2021 Apr; 42(4): 473–486. Published online 2021 Mar 1. doi: 10.1002/humu.24182

PMCID:: PMC8248058

Abstract Article PDF–1.7M

Select item 80502522.

Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects

Gijs A. C. Franken, Murat Seker, Caro Bos, Laura A. H. Siemons, Bram C. J. van der Eerden, Annabel Christ, Joost G. J. Hoenderop, René J. M. Bindels, Dominik Müller, Tilman Breiderhoff, Jeroen H. F. de Baaij

Sci Rep. 2021; 11: 8217. Published online 2021 Apr 15. doi: 10.1038/s41598-021-87548-6

PMCID:: PMC8050252

Abstract Article PDF–1.5M

Select item 62188493.

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Karl P. Schlingmann, Sascha Bandulik, Cherry Mammen, Maja Tarailo-Graovac, Rikke Holm, Matthias Baumann, Jens König, Jessica J.Y. Lee, Britt Drögemöller, Katrin Imminger, Bodo B. Beck, Janine Altmüller, Holger Thiele, Siegfried Waldegger, William van’t Hoff, Robert Kleta, Richard Warth, Clara D.M. van Karnebeek, Bente Vilsen, Detlef Bockenhauer, Martin Konrad

Am J Hum Genet. 2018 Nov 1; 103(5): 808–816. Published online 2018 Nov 1. doi: 10.1016/j.ajhg.2018.10.004

PMCID:: PMC6218849

Abstract Article PDF–1.0M

Select item 39746784.

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann, Anke L. L. Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G. Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J. M. Bindels, Joost G. J. Hoenderop

PLoS Genet. 2014 Apr; 10(4): e1004267. Published online 2014 Apr 3. doi: 10.1371/journal.pgen.1004267

PMCID:: PMC3974678

Abstract Article PDF–8.2M

Select item 26565595.

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Ute I. Scholl, Murim Choi, Tiewen Liu, Vincent T. Ramaekers, Martin G. Häusler, Joanne Grimmer, Sheldon W. Tobe, Anita Farhi, Carol Nelson-Williams, Richard P. Lifton

Proc Natl Acad Sci U S A. 2009 Apr 7; 106(14): 5842–5847. Published online 2009 Mar 16. doi: 10.1073/pnas.0901749106

PMCID:: PMC2656559

Abstract Article PDF–651K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity