Thomas Karaouzene
Thomas Karaouzene
Grenoble University
No verified email
TitleCited byYear
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
PF Ray
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
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