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

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

American journal of medical genetics. Part A - 1 Dec 2011

Strobl-Wildemann Gertrud, Kalscheuer Vera M, Hu Hao, Wrogemann Klaus, Ropers Hans-Hilger, Tzschach Andreas

Abstract excerpt

X-linked intellectual disability (XLID) is a heterogeneous disorder, and mutations in more than 90 genes have been associated with XLID to date. We report on a large multi-generational German family in which the affected male family members had nonsyndromic intellectual disability, that is, they had neither abnormal body measurements nor any other significant clinical problems. Molecular genetic analysis revealed...

Read the complete abstract on PubMed

Topics

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

Share to Frameshift Mutation
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Genetic Diseases, X-Linked

Share to Guanine Nucleotide Dissociation Inhibitors

Share to Infant

Share to Infant, Newborn

Share to Intellectual Disability

Source

Identifiers

PMID: 22002931
DOI: 10.1002/ajmg.a.34291

Genes

GDI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.PMID 22002931Read ↗

Four families with X-linked intellectual disability affected males: Novel deleterious variants and clinical features with the review of literatureSemantic proximity Read ↗

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.Semantic proximity Read ↗

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.Semantic proximity Read ↗

A systematic genotype-phenotype map for missense variants in the human intellectual disability-associated gene <i>GDI1</i>Semantic proximity Read ↗

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.Semantic proximity Read ↗

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.Semantic proximity Read ↗

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.Semantic proximity Read ↗

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.Semantic proximity Read ↗

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.Semantic proximity Read ↗

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.Semantic proximity Read ↗

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.Semantic proximity Read ↗

Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental DisorderSemantic proximity Read ↗

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