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	Pour les 53 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences Solveig Heide , Sandra Chantot-Bastaraud , Boris Keren , Madeleine D Harbison , Salah Azzi , et al. Journal of Medical Genetics, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩ Article dans une revue hal-02006389v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms N. Chatron , G. Giannuzzi , P. Rollat-Farnier , F. Diguet , E. Porcu , et al. 53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.5-6, ⟨10.1038/s41431-020-00740-6⟩ Communication dans un congrès hal-03131441v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families Alexandre Rouen , Eli Rogers , Veronique Kerlan , Brigitte Delemer , Sophie Catteau-Jonard , et al. Fertility and Sterility, 2022, 117 (4), pp.843-853. ⟨10.1016/j.fertnstert.2021.12.023⟩ Article dans une revue hal-03678844v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Le risque tumoral selon l’étiologie : DAX1, WT1, SF1, SOX9, DGM Jean-Pierre Siffroi Journée « ADG et risque tumoral gonadique », Centre de référence DEV-GEN, Jun 2018, Lyon, France Communication dans un congrès inserm-04125514v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome Ken Mcelreavey , Anne Jørgensen , Caroline Eozenou , Tiphanie Merel , Joelle Bignon-Topalovic , et al. Genetics in Medicine, 2020, 22 (1), pp.150-159. ⟨10.1038/s41436-019-0606-y⟩ Article dans une revue pasteur-02376177v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Aortic tissue analysis in Turner syndrome Bruno Donadille , Alexander Valent , Kisaki Amemiya , Nicolas Rive Le Gouard , Laurence Iserin , et al. Journal of the American College of Cardiology, 2022, 80 (13), pp.1284-1285. ⟨10.1016/j.jacc.2022.07.017⟩ Article dans une revue hal-03855805v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes Adrien Bloch , Eli Rogers , Cynthia Nicolas , Tanguy Martin-Denavit , Miguel Monteiro , et al. Journal of Assisted Reproduction and Genetics, 2021, 38 (9), pp.2491-2499. ⟨10.1007/s10815-021-02232-y⟩ Article dans une revue inserm-03780515v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability Solveig Heide , Boris Keren , Thierry Billette de Villemeur , Sandra Chantot-Bastaraud , Christel Depienne , et al. The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩ Article dans une revue hal-01560200v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier Capucine Rossi , Jean-Pierre Siffroi , Léa Ruosso , Eli Rogers , Michael Becker , et al. Journal of Assisted Reproduction and Genetics, 2023, 40 (1), pp.33-40. ⟨10.1007/s10815-022-02665-z⟩ Article dans une revue inserm-04031915v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A 14q distal chromoanagenesis elucidated by whole genome sequencing Flavie Ader , Solveig Heide , Pauline Marzin , Alexandra Afenjar , Flavie Diguet , et al. European Journal of Medical Genetics, 2020, 63 (4), pp.103776. ⟨10.1016/j.ejmg.2019.103776⟩ Article dans une revue hal-03489514v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility ? A multi-centre French study I.E. Aknin-Seifer , R.L. Touraine , Hervé Lejeune , Clément Jimenez , J. Chouteau , et al. Human Reproduction, 2005, 20 (3), pp.736-740 Article dans une revue hal-02675047v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up? Laurence Dumeige , Livie Chatelais , Claire Bouvattier , Marc de Kerdanet , Capucine Hyon , et al. European Journal of Endocrinology, 2018, 179 (3), pp.181-190. ⟨10.1530/EJE-18-0309⟩ Article dans une revue hal-02616785v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Référentiel de la Société francophone du diabète (SFD) : vaccination chez la personne diabétique Laurence Dumeige , Livie Chatelais , Claire Bouvattier , Marc de Kerdanet , Capucine Hyon , et al. Médecine des Maladies Métaboliques, 2020, 14 (1), pp.46-57. ⟨10.1016/j.mmm.2020.01.010⟩ Article dans une revue hal-03656417v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Les mutations de DNAH17 causent une infertilité isolée par asthénospermie par défaut d’une dynéine axonémale spécifique du flagelle des spermatozoïdes Lucie Thomas , Marjorie Whitfield , Émilie Béquignon , Alain Schmitt , Laurence Stouvenel , et al. Assises de génétique humaine et médicale, Jan 2020, Tours, France Communication dans un congrès inserm-03951614v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras Agathe Hercent , Edouard Amar , Alexander Valent , Stéphanie Belloc , Xavier Ferraretto , et al. Sexual Development, 2020, 13 (5-6), pp.271-277. ⟨10.1159/000510532⟩ Article dans une revue inserm-03798540v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Christel Depienne , Daniel Moreno-De-Luca , Delphine Heron , Delphine Bouteiller , Aurélie Gennetier , et al. Biological Psychiatry, 2009, 66 (4), pp.349-59. ⟨10.1016/j.biopsych.2009.01.025⟩ Article dans une revue inserm-00369261v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Y-chromosome AZFc structural architecture and relationship to male fertility Celia Ravel , Sandra Chantot-Bastaraud , Brahim El Houate , Hassan Rouba , Marie Legendre , et al. Fertility and Sterility, 2009, 92 (6), pp.1924-1933. ⟨10.1016/j.fertnstert.2008.08.135⟩ Article dans une revue inserm-04133897v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis Lucie Pierron , Alexandra Irrmann , Aliénor de Chalus , Adrien Bloch , Solveig Heide , et al. Journal of Assisted Reproduction and Genetics, 2019, 36 (5), pp.973-978. ⟨10.1007/s10815-019-01430-z⟩ Article dans une revue inserm-03780478v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study Matthieu Peycelon , Nathalie Lelong , Léa Carlier , M. Francesca Monn , Aliénor de Chalus , et al. Journal of Urology, 2020, 203 (5), pp.1017-1023. ⟨10.1097/JU.0000000000000708⟩ Article dans une revue hal-03009486v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers Alexandre Rouen , Léa Carlier , Solveig Heide , Matthieu Egloff , Pauline Marzin , et al. Reproductive BioMedicine Online, 2017, 35 (4), pp.372-378. ⟨10.1016/j.rbmo.2017.06.017⟩ Article dans une revue inserm-03867866v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays Marie-Paule Beaujard , Sandra Chantot , Michèle Dubois , Boris Keren , Wassila Carpentier , et al. European Journal of Medical Genetics, 2009, 52 (5), pp.321-327. ⟨10.1016/j.ejmg.2009.05.010⟩ Article dans une revue istex hal-02566730v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		CGH-Array et insuffisances ovariennes primitives. Jean-Pierre Siffroi Société de Biologie, Jan 2017, Paris (en ligne), France Communication dans un congrès inserm-04125384v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Atypie du développement génital et risque tumoral : synthèse de la réunion scientifique du 25 mai 2018 organisée par le « Centre de référence des maladies rares du développement génital du fœtus à l’adulte » Cécile Faure Conter , Daniela Brindusa Gorduza , Pierre-Yves Mure , Jean-Pierre Pracros , Pierre Mouriquand , et al. Bulletin du Cancer, 2019, 106 (5), pp.461 - 467. ⟨10.1016/j.bulcan.2019.01.018⟩ Article dans une revue inserm-04096402v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements F. Girard , S. Jaillard , B. Keren , J. Lespinasse , N. Marle , et al. European Journal of Human Genetics, 2019, 27, pp.479-480 Article dans une revue hal-02355732v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder Anne-Claude Tabet , Alain Verloes , Marion Pilorge , Elsa Delaby , Richard Delorme , et al. Molecular Autism, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩ Article dans une revue inserm-01181008v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Caroline Schluth Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel , et al. Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩ Article dans une revue hal-03863519v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma Bourcigaux Nathalie , Rubino Carole , Berthaut Isabelle , Donadille Bruno , Toubert Marie Elisabeth , et al. Endocrine Abstracts, 2017, 49 GP148 Article dans une revue hal-03117805v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit Bruno Donadille , Muriel Houang , Irène Netchine , Jean-Pierre Siffroi , Sophie Christin-Maitre Endocrine Connections, 2018, 7 (3), pp.395-402. ⟨10.1530/EC-17-0306⟩ Article dans une revue inserm-03867576v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) Elodie Fiot , Bertille Alauze , Bruno Donadille , Dinane Samara-Boustani , Muriel Houang , et al. Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩ Article dans une revue inserm-04031866v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia Esther Kott , Philippe Duquesnoy , Bruno Copin , Marie Legendre , Florence Dastot-Le Moal , et al. American Journal of Human Genetics, 2012, 91 (5), pp.958-964. ⟨10.1016/j.ajhg.2012.10.003⟩ Article dans une revue inserm-03888655v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

Le risque tumoral selon l’étiologie : DAX1, WT1, SF1, SOX9, DGM

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Aortic tissue analysis in Turner syndrome

Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier

A 14q distal chromoanagenesis elucidated by whole genome sequencing

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility ? A multi-centre French study

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Référentiel de la Société francophone du diabète (SFD) : vaccination chez la personne diabétique

Les mutations de DNAH17 causent une infertilité isolée par asthénospermie par défaut d’une dynéine axonémale spécifique du flagelle des spermatozoïdes

Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Y-chromosome AZFc structural architecture and relationship to male fertility

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis

Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

CGH-Array et insuffisances ovariennes primitives.

Atypie du développement génital et risque tumoral : synthèse de la réunion scientifique du 25 mai 2018 organisée par le « Centre de référence des maladies rares du développement génital du fœtus à l’adulte »

Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia