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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
Journal articles hal-03117805v1
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Kamran Moradkhani , Laurence Cuisset , Pierre Boisseau , Olivier Pichon , Marine Lebrun et al.
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Journal articles hal-02343373v1

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.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.5-6. ⟨10.1038/s41431-020-00740-6⟩
Journal articles hal-03131441v1

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⟩
Journal articles hal-02006389v1

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⟩
Journal articles inserm-03780478v1

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⟩
Journal articles hal-03009486v1
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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⟩
Journal articles inserm-00369261v1

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

Matthieu Peycelon , Lamisse Mansour-Hendili , Capucine Hyon , Nathalie Collot , Muriel Houang et al.
Sexual Development, 2018, 11 (5-6), pp.293-297. ⟨10.1159/000485909⟩
Journal articles inserm-03837653v1

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⟩
Journal articles hal-03678844v1

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⟩
Journal articles inserm-03780515v1
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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⟩
Journal articles pasteur-02376177v1

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
Journal articles hal-02675047v1

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⟩
Journal articles hal-03656417v1

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⟩
Journal articles hal-02616785v1

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Roseline Vibert , Cyril Mignot , Boris Keren , Sandra Chantot-Bastaraud , Marie-France Portnoï et al.
Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩
Journal articles inserm-03838049v1
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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, pp.103776 -. ⟨10.1016/j.ejmg.2019.103776⟩
Journal articles hal-03489514v1

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⟩
Journal articles hal-01560200v1

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
Journal articles hal-02355732v1

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⟩
Journal articles hal-02566730v1
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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⟩
Journal articles inserm-01181008v1
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Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility

Nino Guy Cassuto , David Piquemal , Florence Boitrelle , Lionel Larue , Nathalie Lédée et al.
BioMed Research International , 2021, 2021, pp.1 - 14. ⟨10.1155/2021/1434546⟩
Journal articles hal-03369698v1
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Lydie Burglen , Sandra Chantot-Bastaraud , Catherine Garel , Mathieu Milh , Renaud Touraine et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.18. ⟨10.1186/1750-1172-7-18⟩
Journal articles inserm-00697436v1

Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49

Aubin Garcia , Marie Legendre , Sandra Chantot-Bastaraud , Jean Pierre Siffroi , Sophie Christin-Maitre et al.
Annales d'Endocrinologie, 2022, pp.S0003-4266(22)00005-1. ⟨10.1016/j.ando.2022.01.003⟩
Journal articles inserm-03798449v1

Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers

Majda Lyna Mebrek , Sylvain Clède , Aliénor de Chalus , Solveig Heide , Léa Ruoso et al.
Journal of Assisted Reproduction and Genetics, 2020, 37 (4), pp.803-809. ⟨10.1007/s10815-020-01736-3⟩
Journal articles inserm-03780488v1
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The NLRP3 p.A441V Mutation in NLRP3 ‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

Fawaz Awad , Eman Assrawi , Claire Jumeau , Sylvie Odent , Veronique Despert et al.
ACR Open Rheumatology, 2019, 1 (4), pp.267-276. ⟨10.1002/acr2.1039⟩
Journal articles inserm-03780414v1

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency

C. Hyon , L. Mansour-Hendili , S. Chantot-Bastaraud , B. Donadille , V. Kerlan et al.
Journal of Clinical Endocrinology and Metabolism, 2016, 101 (5), pp.2099-2104
Journal articles hal-02042408v1
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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield , Lucie Thomas , Emilie Bequignon , Alain Schmitt , Laurence Stouvenel et al.
American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
Journal articles hal-02315263v1

SRY ‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

Sophie Lambert , Matthieu Peycelon , Dinane Samara-Boustani , Capucine Hyon , Laurence Dumeige et al.
Clinical Endocrinology, 2021, 94 (4), pp.667-676. ⟨10.1111/cen.14389⟩
Journal articles inserm-03790574v1

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⟩
Journal articles inserm-03798540v1

Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells

Anne-Claire Guénantin , Nolwenn Briand , Emilie Capel , Florent Dumont , Romain Morichon et al.
Diabetes, 2017, 66 (6), pp.1470-1478. ⟨10.2337/db16-1107⟩
Journal articles hal-02462521v1