Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

doi:10.2215/CJN.05670517

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 7 Feb 2018

Legrand Anne, Treard Cyrielle, Roncelin Isabelle, Dreux Sophie, Bertholet-Thomas Aurélia, Broux Françoise, Bruno Daniele, Decramer Stéphane, Deschenes Georges, Djeddi Djamal, Guigonis Vincent, Jay Nadine, Khalifeh Tackwa, Llanas Brigitte, Morin Denis, Morin Gilles, Nobili François, Pietrement Christine, Ryckewaert Amélie, Salomon Rémi, Vrillon Isabelle, Blanchard Anne, Vargas-Poussou Rosa

Abstract excerpt

BACKGROUND AND OBJECTIVES: Mutations in the MAGED2 gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome. DESIGN, SETTING, PARTICIPANTS, &...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Pregnancy Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adaptor Proteins, Signal Transducing

Share to Antigens, Neoplasm

Share to Bartter Syndrome

Share to France

Share to Mutation Rate

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 29146702
DOI: 10.2215/CJN.05670517
PMCID: PMC5967426

Genes

MAGED2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.PMID 29146702Read ↗

Identification of Three Novel MAGED2 Variants Causing Antenatal Bartter Syndrome in Three Chinese Families.Semantic proximity Read ↗

MAGED2: a novel form of antenatal Bartter's syndrome.Semantic proximity Read ↗

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.Semantic proximity Read ↗

A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.Semantic proximity Read ↗

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.Semantic proximity Read ↗

Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome.Semantic proximity Read ↗

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition.Semantic proximity Read ↗

Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome.Semantic proximity Read ↗

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.Semantic proximity Read ↗

A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.Semantic proximity Read ↗

Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues.Semantic proximity Read ↗

Pathophysiology of antenatal Bartter's syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.