Discover Community Create You

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

Article

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Clinical endocrinology - 1 May 2014

Kato Fumiko, Hamajima Takashi, Hasegawa Tomonobu, Amano Naoko, Horikawa Reiko, Nishimura Gen, Nakashima Shinichi, Fuke Tomoko, Sano Shinichirou, Fukami Maki, Ogata Tsutomu

Abstract excerpt

OBJECTIVE: Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Insufficiency
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Cyclin-Dependent Kinase Inhibitor p57

Share to Fetal Growth Retardation

Share to Karyotyping

Share to Osteochondrodysplasias

Share to Urogenital Abnormalities

Source

Identifiers

PMID: 24313804
DOI: 10.1111/cen.12379

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.PMID 24313804Read ↗

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.Semantic proximity Read ↗

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.Semantic proximity Read ↗

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.Semantic proximity Read ↗

Analysis of CDKN1C in fetal growth restriction and pregnancy lossSemantic proximity Read ↗

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.Semantic proximity Read ↗

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.Semantic proximity Read ↗

CDKN1C mutations: two sides of the same coin.Semantic proximity Read ↗

CDKN1C gene mutation causing familial Silver–Russell syndrome, with family pedigreeSemantic proximity Read ↗

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phaseSemantic proximity Read ↗

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.Semantic proximity Read ↗

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