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Article

Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.

American journal of ophthalmology - 1 Jan 2004

Xu Kangpu, Rosenwaks Zev, Beaverson Katherine, Cholst Ina, Veeck Lucinda, Abramson David H

Abstract excerpt

PURPOSE: To develop an accurate mutation analysis procedure for retinoblastoma gene (RB1) mutation, which is sensitive at the single-cell level, and to use in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) to achieve pregnancies without retinoblastoma. DESIGN: Case report. METHODS: Twelve day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent single-cell DNA testing...

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Identifiers

PMID: 14700639
DOI: 10.1016/s0002-9394(03)00872-9

Genes

PGD

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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.

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