Search Results - "Ray, P. F."

Genetic abnormalities leading to qualitative defects of sperm morphology or function by Ray, P.F., Toure, A., Metzler‐Guillemain, C., Mitchell, M.J., Arnoult, C., Coutton, C.

“…Infertility, defined by the inability of conceiving a child after 1 year is estimated to concern approximately 50 million couples worldwide. As the male gamete…”
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Single gene defects leading to sperm quantitative anomalies by Mitchell, M.J., Metzler‐Guillemain, C., Toure, A., Coutton, C., Arnoult, C., Ray, P.F.

“…Azoospermia, defined by the absence of sperm in the ejaculate, is estimated to affect up to 1% of men in the general population. Assisted reproductive…”
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Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis by Steffann, J, Frydman, N, Gigarel, N, Burlet, P, Ray, P F, Fanchin, R, Feyereisen, E, Kerbrat, V, Tachdjian, G, Bonnefont, J-P, Frydman, R, Munnich, A

“…Background: Diseases arising from mitochondrial DNA (mtDNA) mutations are usually serious pleiotropic disorders with maternal inheritance. Owing to the high…”
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Teratozoospermia: spotlight on the main genetic actors in the human by Coutton, Charles, Escoffier, Jessica, Martinez, Guillaume, Arnoult, Christophe, Ray, Pierre F

“…Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis…”
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Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization by Ray, P F, Conaghan, J, Winston, R M, Handyside, A H

“…The number of cells and metabolic activity of male and female human preimplantation embryos were examined to determine whether male embryos are more advanced…”
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Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination by Ray, Pierre F., Vekemans, Michel, Munnich, Arnold

“…Large deletions in the dystrophin gene account for >60% of mutations responsible for Duchenne muscular dystrophy (DMD). We have developed a genetic test that…”
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A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis by Ben Khelifa, Mariem, Zouari, Raoudha, Harbuz, Radu, Halouani, Lazhar, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

“…The presence of close to 100% large-headed multi-tailed spermatozoa in the ejaculate has been described as a rare phenotype of male infertility with a very…”
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Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study by Duclaux-Loras, R, Charbit-Henrion, F, Neven, B, Nowak, J, Collardeau-Frachon, S, Malcus, C, Ray, P F, Moshous, D, Beltrand, J, Goulet, O, Cerf-Bensussan, N, Lachaux, A, Rieux-Laucat, F, Ruemmele, F M

“…Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune disease caused by mutations in the forkhead box protein 3 gene…”
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MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia by Coutton, Charles, Zouari, Raoudha, Abada, Farid, Ben Khelifa, Mariem, Merdassi, Ghaya, Triki, Chema, Escalier, Denise, Hesters, Laetitia, Mitchell, Valérie, Levy, Rachel, Sermondade, Nathalie, Boitrelle, Florence, Vialard, François, Satre, Véronique, Hennebicq, Sylviane, Jouk, Pierre-Simon, Arnoult, Christophe, Lunardi, Joël, Ray, Pierre F.

“…STUDY QUESTION Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER Two DPY19L2 heterozygous…”
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Comprehensive investigation in patients affected by globozoospermia by Coutton, C., Arnoult, C., Ray, P. F.

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XIST Expression from the Maternal X Chromosome in Human Male Preimplantation Embryos at the Blastocyst Stage by Ray, Pierre F., Winston, Robert M. L., Handyside, Alan H.

“…In the somatic cells of female mammals, either the maternally or paternally derived X chromosome (XM or XP) is randomly inactivated to achieve dosage…”
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Inverse correlation between chromatin condensation and sperm head size in a case of enlarged sperm heads by Guthauser, B, Albert, M, Ferfouri, F, Ray, P.F, Rabiey, G, Selva, J, Vialard, F

“…Abstract Among sperm morphology abnormalities, macrocephalic and large-headed spermatozoa are commonly associated with a low chance of pregnancy, mainly in…”
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Preimplantation genetic diagnosis of beta-thalassaemia major by Ray, P F, Kaeda, J S, Bingham, J, Roberts, I, Handyside, A H

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Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28 by GIGAREL, Nadine, FRYDMAN, Nelly, BURLET, Philippe, KERBRAT, Violaine, STEFFANN, Julie, FRYDMAN, René, MUNNICH, Arnold, RAY, Pierre F

“…Preimplantation genetic diagnosis (PGD) first consisted of the selection of female embryos for patients at risk of transmitting X-linked recessive diseases…”
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Single cell quantification of the 8993T > G NARP mitochondrial DNA mutation by fluorescent PCR by Gigarel, Nadine, Ray, Pierre F., Burlet, Philippe, Frydman, Nelly, Royer, Ghislaine, Lebon, Sophie, Bonnefont, Jean Paul, Frydman, René, Munnich, Arnold, Steffann, Julie

“…When a mitochondrial DNA (mtDNA) mutation is identified, the reliable and sensitive quantification of the mutation load is a prerequisite for evaluating the…”
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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 by Taylor, Deborah M., Ray, Pierre F., Ao, Asangla, Winston, Robert M.L., Handyside, Alan H.

“…The transition between dependence on maternal transcripts and proteins inherited in the oocyte and embryonic gene expression in the human preimplantation…”
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Predictable male causes of in vitro fertilization (IVF) with intra cytoplasmic sperm injection (ICSI) failure by Ray, P-F

“…The decision not to initiate or to stop a therapeutic treatment for infertility is, for the clinician, probably one of the most difficult to make. This can…”
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Quantitative measurement of transcript levels throughout human preimplantation development: analysis of hypoxanthine phosphoribosyl transferase by Taylor, Deborah M., Handyside, Alan H., Ray, Pierre F., Dibb, Nicholas J., Winston, Robert M.L., Ao, Asangla

“…We have developed a competitive reverse transcription-polymerase chain reaction (RT–PCR) sensitive enough to detect and quantify as little as 2-fold…”
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The place of ‘social sexing’ in medicine and science by Ray, Pierre F., Munnich, Arnold, Nisand, Israël, Frydman, René, Vekemans, Michel, Viville, Stéphane

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Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the ΔF508 deletion causing cystic fibrosis in clinical practice by Ray, Pierre F., Ao, Asangla, Taylor, Deborah M., Winston, Robert M. L., Handyside, Alan H.

“…Following the birth of a baby girl confirmed to be homozygous normal for the ΔF508 deletion causing cystic fibrosis (CF), many single‐gene defects have been…”
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