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Wyszukujesz frazę ""Stouvenel, Laurence"" wg kryterium: Autor


Tytuł :
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
Autorzy :
Lorès, Patrick
Kherraf, Zine-EddineAff2, Aff3
Amiri-Yekta, Amir
Whitfield, Marjorie
Daneshipour, Abbas
Stouvenel, Laurence
Cazin, CarolineAff2, Aff3
Cavarocchi, Emma
Coutton, CharlesAff2, Aff5
Llabador, Marie-Astrid
Arnoult, Christophe
Thierry-Mieg, Nicolas
Ferreux, LucileAff1, Aff8
Patrat, CatherineAff1, Aff8
Hosseini, Seyedeh-Hanieh
Mustapha, Selima Fourati Ben
Zouari, Raoudha
Dulioust, EmmanuelAff1, Aff8
Ray, Pierre F.Aff2, Aff3
Touré, Aminata
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Źródło :
Human Genetics. 140(7):1031-1043
Czasopismo naukowe
Tytuł :
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
Autorzy :
Lorès, Patrick
Kherraf, Zine-EddineAff2, Aff3
Amiri-Yekta, Amir
Whitfield, Marjorie
Daneshipour, Abbas
Stouvenel, Laurence
Cazin, CarolineAff2, Aff3
Cavarocchi, Emma
Coutton, CharlesAff2, Aff5
Llabador, Marie-Astrid
Arnoult, Christophe
Thierry-Mieg, Nicolas
Ferreux, LucileAff1, Aff8
Patrat, CatherineAff1, Aff8
Hosseini, Seyedeh-Hanieh
Mustapha, Selima Fourati Ben
Zouari, Raoudha
Dulioust, EmmanuelAff1, Aff8
Ray, Pierre F.Aff2, Aff3
Touré, Aminata
Pokaż więcej
Źródło :
Human Genetics. 140(7):1045-1045
Czasopismo naukowe
Tytuł :
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
Autorzy :
Cavarocchi, Emma
Whitfield, Marjorie
Chargui, Ahmed
Stouvenel, Laurence
Lorès, Patrick
Coutton, Charles
Arnoult, Christophe
Santulli, Pietro
Patrat, Catherine
Thierry‐Mieg, Nicolas
Ray, Pierre F.
Dulioust, Emmanuel
Touré, Aminata
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Temat :
SPERM motility
ADENYLATE cyclase
PROTONS
SODIUM
PROTEIN domains
MALE infertility
SPERMATOZOA
Źródło :
Clinical Genetics; May2021, Vol. 99 Issue 5, p684-693, 10p
Czasopismo naukowe
Tytuł :
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Autorzy :
Whitfield, Marjorie
Thomas, Lucie
Bequignon, Emilie
Schmitt, Alain
Stouvenel, Laurence
Montantin, Guy
Tissier, Sylvie
Duquesnoy, Philippe
Copin, Bruno
Chantot, Sandra
Dastot, Florence
Faucon, Catherine
Barbotin, Anne Laure
Loyens, Anne
Siffroi, Jean-Pierre
Papon, Jean-François
Escudier, Estelle
Amselem, Serge
Mitchell, Valerie
Touré, Aminata
Legendre, Marie
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Temat :
DNAH17
ODA
PCD
axoneme
cilia
dynein
male infertility
sperm flagellum
[SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
Tytuł :
Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse
Autorzy :
El Khouri, Elma
Whitfield, Marjorie
Stouvenel, Laurence
Kini, Archana
Riederer, Brigitte
Lorès, Patrick
Roemermann, Dorothee
di Stefano, Gabriella
Drevet, Joël
Saez, Fabrice
Seidler, Ursula
Touré, Aminata
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Temat :
[SDV]Life Sciences [q-bio]
Źródło :
Molecular Reproduction and Development
Molecular Reproduction and Development, Wiley, 2018, 85 (8-9), pp.682-695. ⟨10.1002/mrd.23055⟩
Tytuł :
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia
Autorzy :
Lorès, Patrick
Coutton, Charles
El Khouri, Elma
Stouvenel, Laurence
Givelet, Maelle
Thomas, Lucie
Rode, Baptiste
Schmitt, Alain
Louis, Bruno
Sakheli, Zeinab
Chaudhry, Marhaba
Fernandez-Gonzales, Angeles
Mitsialis, Alex
Dacheux, Denis
Wolf, Jean-Philippe
Papon, Jean-François
Gacon, Gérard
Escudier, Estelle
Arnoult, Christophe
Bonhivers, Mélanie
Savinov, Sergey
Amselem, Serge
Ray, Pierre
Dulioust, Emmanuel
Touré, Aminata
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Temat :
[SDV]Life Sciences [q-bio]
Źródło :
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1196-1211. ⟨10.1093/hmg/ddy034⟩
Tytuł :
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse
Autorzy :
Dong, Frederick
Amiri-Yekta, Amir
Martinez, Guillaume
Saut, Antoine
Tek, Julie
Stouvenel, Laurence
Lorès, Patrick
Karaouzène, Thomas
Thierry-Mieg, Nicolas
Satre, Véronique
Brouillet, Sophie
Daneshipour, Abbas
Hosseini, Seyedeh Hanieh
Bonhivers, Melanie
Gourabi, Hamid
Dulioust, Emmanuel
Arnoult, Christophe
Touré, Aminata
Ray, Pierre
Zhao, Haiqing
Coutton, Charles
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Temat :
[SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (4), pp.636 - 648. ⟨10.1016/j.ajhg.2018.03.007⟩
Tytuł :
Deletion of the Spata3 Gene Induces Sperm Alterations and In Vitro Hypofertility in Mice.
Autorzy :
Girault, Marie-Sophie
Dupuis, Sophie
Ialy-Radio, Côme
Stouvenel, Laurence
Viollet, Cécile
Pierre, Rémi
Favier, Maryline
Ziyyat, Ahmed
Barbaux, Sandrine
Gemmati, Donato
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Temat :
DELETION mutation
FERTILIZATION in vitro
PHENOTYPES
MICE
SPERMATOZOA
SPERMATOGENESIS
LOCUS (Genetics)
GENES
Źródło :
International Journal of Molecular Sciences; Feb2021, Vol. 22 Issue 4, p1959-1959, 1p
Czasopismo naukowe
Tytuł :
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Autorzy :
Lorès, Patrick
Coutton, Charles
Khouri, Elma El
Stouvenel, Laurence
Givelet, Maëlle
Thomas, Lucie
Rode, Baptiste
Schmitt, Alain
Louis, Bruno
Sakheli, Zeinab
Chaudhry, Marhaba
Fernandez-Gonzales, Angeles
Mitsialis, Alex
Dacheux, Denis
Wolf, Jean-Philippe
Papon, Jean-François
Gacon, Gérard
Escudier, Estelle
Arnoult, Christophe
Bonhivers, Mélanie
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Źródło :
Human Molecular Genetics; 3/15/2019, Vol. 28 Issue 6, p1052-1052, 1p
Czasopismo naukowe
Tytuł :
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
Autorzy :
Lorès, Patrick (AUTHOR)
Kherraf, Zine-Eddine (AUTHOR)
Amiri-Yekta, Amir (AUTHOR)
Whitfield, Marjorie (AUTHOR)
Daneshipour, Abbas (AUTHOR)
Stouvenel, Laurence (AUTHOR)
Cazin, Caroline (AUTHOR)
Cavarocchi, Emma (AUTHOR)
Coutton, Charles (AUTHOR)
Llabador, Marie-Astrid (AUTHOR)
Arnoult, Christophe (AUTHOR)
Thierry-Mieg, Nicolas (AUTHOR)
Ferreux, Lucile (AUTHOR)
Patrat, Catherine (AUTHOR)
Hosseini, Seyedeh-Hanieh (AUTHOR)
Mustapha, Selima Fourati Ben (AUTHOR)
Zouari, Raoudha (AUTHOR)
Dulioust, Emmanuel (AUTHOR)
Ray, Pierre F. (AUTHOR)
Touré, Aminata (AUTHOR)
Pokaż więcej
Źródło :
Human Genetics. Mar2021, p1-1.
Czasopismo naukowe
Tytuł :
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
Autorzy :
Lorès, Patrick (AUTHOR)
Kherraf, Zine-Eddine (AUTHOR)
Amiri-Yekta, Amir (AUTHOR)
Whitfield, Marjorie (AUTHOR)
Daneshipour, Abbas (AUTHOR)
Stouvenel, Laurence (AUTHOR)
Cazin, Caroline (AUTHOR)
Cavarocchi, Emma (AUTHOR)
Coutton, Charles (AUTHOR)
Llabador, Marie-Astrid (AUTHOR)
Arnoult, Christophe (AUTHOR)
Thierry-Mieg, Nicolas (AUTHOR)
Ferreux, Lucile (AUTHOR)
Patrat, Catherine (AUTHOR)
Hosseini, Seyedeh-Hanieh (AUTHOR)
Mustapha, Selima Fourati Ben (AUTHOR)
Zouari, Raoudha (AUTHOR)
Dulioust, Emmanuel (AUTHOR)
Ray, Pierre F. (AUTHOR)
Touré, Aminata (AUTHOR)
Pokaż więcej
Źródło :
Human Genetics. Mar2021, p1-13.
Czasopismo naukowe
Tytuł :
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Autorzy :
Lorès P; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Dacheux D; Université de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR 5234, Bordeaux, France; Institut Polytechnique de Bordeaux, Microbiologie Fondamentale et Pathogénicité, UMR-CNRS 5234, 33000 Bordeaux, France.
Kherraf ZE; INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000 Grenoble, France; CHU de Grenoble, UM GI-DPI, Grenoble 38000, France.
Nsota Mbango JF; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Coutton C; INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000 Grenoble, France; CHU Grenoble Alpes, UM de Génétique Chromosomique, Grenoble, France.
Stouvenel L; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Ialy-Radio C; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Amiri-Yekta A; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Whitfield M; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Schmitt A; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Cazin C; INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000 Grenoble, France.
Givelet M; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Ferreux L; Laboratoire d'Histologie Embryologie - Biologie de la Reproduction - CECOS Groupe Hospitalier Universitaire Paris Centre, Assistance Publique-Hôpitaux de Paris, Paris 75014, France.
Fourati Ben Mustapha S; Histologie Embryologie et Biologie de la Reproduction, Centre de Promotion des Sciences de la Reproduction, Polyclinique les Jasmins, Centre Urbain Nord, 1003 Tunis, Tunisia.
Halouani L; Histologie Embryologie et Biologie de la Reproduction, Centre de Promotion des Sciences de la Reproduction, Polyclinique les Jasmins, Centre Urbain Nord, 1003 Tunis, Tunisia.
Marrakchi O; Histologie Embryologie et Biologie de la Reproduction, Centre de Promotion des Sciences de la Reproduction, Polyclinique les Jasmins, Centre Urbain Nord, 1003 Tunis, Tunisia.
Daneshipour A; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
El Khouri E; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Do Cruzeiro M; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Favier M; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Guillonneau F; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Chaudhry M; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Sakheli Z; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Wolf JP; INSERM U1016, Institut Cochin, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France; Laboratoire d'Histologie Embryologie - Biologie de la Reproduction - CECOS Groupe Hospitalier Universitaire Paris Centre, Assistance Publique-Hôpitaux de Paris, Paris 75014, France.
Patrat C; INSERM U1016, Institut Cochin, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France; Laboratoire d'Histologie Embryologie - Biologie de la Reproduction - CECOS Groupe Hospitalier Universitaire Paris Centre, Assistance Publique-Hôpitaux de Paris, Paris 75014, France.
Gacon G; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France.
Savinov SN; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA.
Hosseini SH; Department of Andrology, Reproductive Biomedicine Research Center, Royan Institutefor Reproductive Biomedicine, ACECR, Tehran, Iran.
Robinson DR; Université de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR 5234, Bordeaux, France.
Zouari R; Histologie Embryologie et Biologie de la Reproduction, Centre de Promotion des Sciences de la Reproduction, Polyclinique les Jasmins, Centre Urbain Nord, 1003 Tunis, Tunisia.
Ziyyat A; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France; Laboratoire d'Histologie Embryologie - Biologie de la Reproduction - CECOS Groupe Hospitalier Universitaire Paris Centre, Assistance Publique-Hôpitaux de Paris, Paris 75014, France.
Arnoult C; INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000 Grenoble, France.
Dulioust E; INSERM U1016, Institut Cochin, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France; Laboratoire d'Histologie Embryologie - Biologie de la Reproduction - CECOS Groupe Hospitalier Universitaire Paris Centre, Assistance Publique-Hôpitaux de Paris, Paris 75014, France.
Bonhivers M; Université de Bordeaux, Microbiologie Fondamentale et Pathogénicité, CNRS UMR 5234, Bordeaux, France.
Ray PF; INSERM U1209, CNRS UMR 5309, Université Grenoble Alpes, 38000 Grenoble, France; CHU de Grenoble, UM GI-DPI, Grenoble 38000, France.
Touré A; INSERM U1016, Institut Cochin, Paris 75014, France; Centre National de la Recherche Scientifique UMR8104, Paris 75014, France; Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75014, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1148-1167. Date of Electronic Publication: 2019 Nov 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Asthenozoospermia/*etiology
Axoneme/*pathology
Flagella/*pathology
Infertility, Male/*etiology
Microtubule-Associated Proteins/*genetics
Animals ; Asthenozoospermia/metabolism ; Asthenozoospermia/pathology ; Axoneme/genetics ; Axoneme/metabolism ; Evolution, Molecular ; Female ; Fertilization in Vitro ; Flagella/genetics ; Flagella/metabolism ; Humans ; Infertility, Male/metabolism ; Infertility, Male/pathology ; Male ; Mice, Inbred C57BL ; Trypanosoma brucei brucei/physiology ; Trypanosomiasis
Czasopismo naukowe

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