Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping

The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy’s Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology.

• Publication year

  2007

• Venue

  EJIFCC

• Publication date

  2007-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 29593454PMCID 5869224
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Preimplantation genetic screening.

  2008cited by this paper
• Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues

  2007cited by this paper
• Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis.

  2006cited by this paper
• Clinical application of multiple displacement amplification in preimplantation genetic diagnosis.

  2005cited by this paper
• Hormone therapy: new insights on the management of postmenopausal and premenopausal women

  2005cited by this paper
• Preimplantation Genetic Diagnosis—An Overview

  2005cited by this paper
• ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

  2005cited by this paper
• Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease.

  2004cited by this paper
• Multiple displacement amplification on single cell and possible PGD applications.

  2004cited by this paper
• Isothermal multiple displacement amplification: a highly reliable approach for generating unlimited high molecular weight genomic DNA from clinical specimens.

  2004cited by this paper
• Preimplantation genetic diagnosis.

  2003cited by this paper
• Preimplantation Genetic Diagnosis for Carriers of Reciprocal Translocations.

  2003cited by this paper
• Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens.

  2003cited by this paper
• Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center.

  2003cited by this paper
• Comprehensive human genome amplification using multiple displacement amplification

  2002cited by this paper
• Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities.

  2002cited by this paper
• Preimplantation genetic diagnosis

  2002cited by this paper
• Best practice guidelines for molecular analysis in spinal muscular atrophy

  2001cited by this paper
• Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error.

  2001cited by this paper
• Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosis.

  2001cited by this paper
• Outcome of preimplantation genetic diagnosis of translocations.

  2000cited by this paper
• Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification

  1998cited by this paper
• Multiple genetic diagnoses from single cells using multiplex PCR: reliability and allele dropout

  1998cited by this paper
• Preimplantation genetics.

  1998cited by this paper
• Allele Dropout in Polar Bodies and Blastomeres

  1998cited by this paper
• Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis.

  1992cited by this paper
• Preimplantation Genetics

  1991cited by this paper

• No citing papers are available for this paper.