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
7072003
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
2252007
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
2042012
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
2041995
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
1521996
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
1432006
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
1412011
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
1401995
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
1372014
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
1342011
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
1062015
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
1022012
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
912009
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
871997
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
731997
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
641998
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
631996
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
622001
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
612014
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
612001
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