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 mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.

American journal of medical genetics. Part A - 15 Dec 2008

Nawara Magdalena, Klapecki Jakub, Borg Katarzyna, Jurek Marta, Moreno Sarah, Tryfon Jolanta, Bal Jerzy, Chelly Jamel, Mazurczak Tadeusz

Abstract excerpt

Mental retardation (MR) affects approximately 2% of the population. About 10% of all MR cases result from defects of X-linked genes. Mutations in most of more than 20 known genes causing nonspecific form of X-linked MR (MRX) are very rare and may account for less than 0.5-1% of MR. Linkage studies in extended pedigrees followed by mutational analysis of known MRX genes in the linked interval are often the only...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Artificial, Bacterial
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Clone Cells

Share to Cytogenetic Analysis

Share to Family

Share to In Situ Hybridization, Fluorescence

Share to Neuropsychological Tests

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 19012350
DOI: 10.1002/ajmg.a.32613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.PMID 19012350Read ↗

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.Semantic proximity Read ↗

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.Semantic proximity Read ↗

[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].Semantic proximity Read ↗

Clinical and molecular contributions to the understanding of X-linked mental retardation.Semantic proximity Read ↗

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.Semantic proximity Read ↗

[X-linked mental retardation].Semantic proximity Read ↗

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.Semantic proximity Read ↗

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.Semantic proximity Read ↗

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.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-linked mental retardation.Semantic proximity Read ↗

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.Semantic proximity Read ↗

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