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

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.

BMC women's health - 4 Mar 2022

Meraj Neelam, Yasin Muhammad, Rehman Zia Ur, Tahir Haleema, Jadoon Humaira, Khan Niamat, Shahid Rabia, Zubair Maria, Zulfiqar Irba, Jabeen Musarrat, Neelam Shahzadi, Hameed Abdul, Saleha Shamim

Abstract excerpt

PURPOSE: Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5'-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM alleles to full mutation alleles (> 200 repeats) during maternal transmission. METHODS: In present study fragile X PM carrier...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Mutation

Share to Pakistan

Share to Primary Health Care

Share to Referral and Consultation

Source

Open in PubMed Open full text

Identifiers

PMID: 35246105
DOI: 10.1186/s12905-022-01632-1
PMCID: PMC8895653

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

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.PMID 35246105Read ↗

Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.Semantic proximity Read ↗

Fragile X syndrome carrier screening in pregnant women in Chinese Han population.Semantic proximity Read ↗

Diagnostic value of molecular approach in screening for fragile X premutation cases.Semantic proximity Read ↗

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in AfricaSemantic proximity Read ↗

Health problems in females carriers of premutation in the FMR1 gene.Semantic proximity Read ↗

Population-based FMR1 carrier screening among reproductive women.Semantic proximity Read ↗

Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.Semantic proximity Read ↗

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Semantic proximity Read ↗

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.Semantic proximity Read ↗

Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.Semantic proximity Read ↗

Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.Semantic proximity Read ↗

No association between<i>FMR1</i>premutation and either ADHD or anxiety in 53,707 women undergoing genetic testing for family planning purposesSemantic proximity Read ↗

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