• Publications
  • Influence
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbedExpand
  • 216
  • 22
ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.
Among the many educational materials produced by the European Society of Human Reproduction and Embryology (ESHRE) are guidelines. ESHRE guidelines may be developed for many reasons but their intentExpand
  • 337
  • 18
  • PDF
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Friedreich's ataxia, the most frequent inherited ataxia, is caused, in the vast majority of cases, by large GAA repeat expansions in the first intron of the frataxin gene. The normal sequenceExpand
  • 288
  • 18
The ESHRE PGD Consortium: 10 years of data collection.
BACKGROUND Since it was established in 1997, the ESHRE PGD Consortium has been collecting data from international preimplantation genetic diagnosis (PGD) centres. Ten papers have been published,Expand
  • 233
  • 16
  • PDF
ESHRE PGD consortium best practice guidelines for amplification-based PGD.
In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential,Expand
  • 190
  • 8
  • PDF
ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003.
The fifth report of the ESHRE PGD Consortium is presented (data collection V). For the first time, the cycle data were collected for one calendar year (2002) in the following October, so that dataExpand
  • 578
  • 7
What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee.
Since 2004, there have been 11 randomized controlled trials (RCTs) mainly for advanced maternal age (AMA), which have shown no benefit of performing preimplantation genetic screening (PGS). Ten ofExpand
  • 161
  • 7
  • PDF
ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008.
The 10th report of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium is presented, documenting cycles collected for the calendar year 2007 and follow-up of theExpand
  • 127
  • 7
What next for preimplantation genetic screening?
Preimplantation genetic diagnosis for aneuploidy screening (preimplantation genetic screening-PGS) has been used to detect chromosomally normal embryos from subfertile patients. The main indicationsExpand
  • 101
  • 6
  • PDF
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.
The ninth report of the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium is presented documenting cycles collected for the calendar year 2006 andExpand
  • 91
  • 6