|Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome|
J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, ...
Nature genetics 33 (4), 459, 2003
|Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility|
K Dieterich, RS Rifo, AK Faure, S Hennebicq, BB Amar, M Zahi, J Perrin, ...
Nature genetics 39 (5), 661, 2007
|Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|
N Roux-Buisson, M Cacheux, A Fourest-Lieuvin, J Fauconnier, J Brocard, ...
Human molecular genetics 21 (12), 2759-2767, 2012
|Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis|
lan Findlay, P Ray, P Quirke, A Rutherford, R Lilford
MHR: Basic science of reproductive medicine 1 (4), 209-218, 1995
|Increasing the denaturation temperature during the first cycles of amplification reduced allele dropout from single cells for preimplantation genetic diagnosis|
MHR: Basic science of reproductive medicine 2 (3), 213-218, 1996
|Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis|
J Steffann, N Frydman, N Gigarel, P Burlet, PF Ray, R Fanchin, ...
Journal of medical genetics 43 (3), 244-247, 2006
|A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation|
R Harbuz, R Zouari, V Pierre, MB Khelifa, M Kharouf, C Coutton, ...
The American Journal of Human Genetics 88 (3), 351-361, 2011
|Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization|
PF Ray, J Conaghan, RML Winston, AH Handyside
Reproduction 104 (1), 165-171, 1995
|Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella|
MB Khelifa, C Coutton, R Zouari, T Karaouzène, J Rendu, M Bidart, ...
The American Journal of Human Genetics 94 (1), 95-104, 2014
|DPY19L2 deletion as a major cause of globozoospermia|
I Koscinski, E ElInati, C Fossard, C Redin, J Muller, JV de la Calle, ...
The American Journal of Human Genetics 88 (3), 344-350, 2011
|Teratozoospermia: spotlight on the main genetic actors in the human|
C Coutton, J Escoffier, G Martinez, C Arnoult, PF Ray
Human reproduction update 21 (4), 455-485, 2015
|Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus|
V Pierre, G Martinez, C Coutton, J Delaroche, S Yassine, C Novella, ...
Development 139 (16), 2955-2965, 2012
|The Aurora Kinase C c. 144delC mutation causes meiosis I arrest in men and is frequent in the North African population|
K Dieterich, R Zouari, R Harbuz, F Vialard, D Martinez, H Bellayou, ...
Human molecular genetics 18 (7), 1301-1309, 2009
|XIST expression from the maternal X chromosome in human male preimplantation embryos at the blastocyst stage|
PF Ray, RML Winston, AH Handyside
Human molecular genetics 6 (8), 1323-1327, 1997
|Paternal transcripts for glucose‐6‐phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the Three‐to Four‐Cell stage|
DM Taylor, PF Ray, A Ao, RML Winston, AH Handyside
Molecular Reproduction and Development: Incorporating Gamete Research 48 (4 …, 1997
|Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the ΔF508 deletion causing cystic fibrosis in clinical practice|
PF Ray, A Ao, DM Taylor, RML Winston, AH Handyside
Prenatal diagnosis 18 (13), 1402-1412, 1998
|Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis|
PF Ray, RML Winston, AH Handyside
Journal of assisted reproduction and genetics 13 (2), 104-106, 1996
|Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination|
PF Ray, M Vekemans, A Munnich
Molecular human reproduction 7 (5), 489-494, 2001
|Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation|
J Escoffier, S Yassine, HC Lee, G Martinez, J Delaroche, C Coutton, ...
MHR: Basic science of reproductive medicine 21 (2), 157-168, 2014
|Quantitative measurement of transcript levels throughout human preimplantation development: analysis of hypoxanthine phosphoribosyl transferase|
DM Taylor, AH Handyside, PF Ray, NJ Dibb, RML Winston, A Ao
Molecular human reproduction 7 (2), 147-154, 2001