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

Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A.

Thrombosis and haemostasis - 1 Feb 2006

Michaelides Katerina, Tuddenham Edward G D, Turner Cathy, Lavender Ben, Lavery Stuart A

Abstract excerpt

Haemophilia A is an X-linked, recessive, inherited bleeding disorder which affects 1 in 5000 males born worldwide. It is caused by mutations in the FactorVIII (F8) gene on chromosome Xq28. We describe for the first time two mutation specific, single cell protocols for pre-implantation genetic diagnosis (PGD) of haemophilia. A that enable the selection of both male and female unaffected embryos. This approach...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Embryo Transfer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor VIII

Share to Family Health

Share to Hemophilia A

Share to Live Birth

Share to Pregnancy

Share to Preimplantation Diagnosis

Source

Identifiers

PMID: 16493501
DOI: 10.1160/TH05-08-0574

Genes

PGD
ADO
SDS

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

Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A.PMID 16493501Read ↗

A versatile strategy for preimplantation genetic diagnosis of haemophilia A based on F8-gene sequencing.Semantic proximity Read ↗

Preimplantation genetic diagnosis of haemophiliaSemantic proximity Read ↗

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.Semantic proximity Read ↗

Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches.Semantic proximity Read ↗

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center.Semantic proximity Read ↗

Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis.Semantic proximity Read ↗

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.Semantic proximity Read ↗

Pregnancy after preimplantation genetic diagnosis for Ataxia TelangiectasiaSemantic proximity Read ↗

Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia.Semantic proximity Read ↗

Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth.Semantic proximity Read ↗

Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis.Semantic proximity Read ↗

Preimplantation genetic diagnosis for beta-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci.Semantic proximity Read ↗

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