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authFullName_s : Jean-Pierre Siffroi

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

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⟩
Journal articles inserm-04031915v1
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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 (4), pp.103776. ⟨10.1016/j.ejmg.2019.103776⟩
Journal articles hal-03489514v1

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⟩
Journal articles inserm-03888655v1
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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⟩
Journal articles inserm-04031866v1
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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

Mathias Schwartz , Damien Sternberg , Sandra Whalen , Alexandra Afenjar , Arnaud Isapof , et al.
American Journal of Medical Genetics Part A, 2023, 176 (1), pp.151-155. ⟨10.1002/ajmg.a.38515⟩
Journal articles inserm-03851530v1
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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⟩
Journal articles inserm-03867576v1

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

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
Conference papers inserm-04125514v1

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
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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

CGH-Array et insuffisances ovariennes primitives.

Jean-Pierre Siffroi
Société de Biologie, Jan 2017, Paris (en ligne), France
Conference papers inserm-04125384v1

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⟩
Journal articles inserm-03867866v1
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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

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

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
Conference papers inserm-03951614v1
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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⟩
Journal articles inserm-04133897v1

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

Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

Sophie Christin-Maitre , Maria Givony , Frédérique Albarel , Anne Bachelot , Maud Bidet , et al.
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩
Journal articles inserm-03856183v1

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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Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Maud Blanluet , Sandra Chantot-Bastaraud , Pascal Chambon , Kévin Cassinari , Gabriella Vera , et al.
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
Journal articles inserm-03856026v1
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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

Sémantique et classification des variations du développement génital

Jean-Pierre Siffroi
la Société Française d’Endocrinologie, Oct 2021, Le Havre, France
Conference papers inserm-04154911v1

Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome

A Graff , B Donadille , H Morel , M Villy , N Bourcigaux , et al.
Human Reproduction, 2020, 35 (10), pp.2391-2398. ⟨10.1093/humrep/deaa197⟩
Journal articles inserm-03857359v1
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Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge

Sophie Christin-Maitre , Jean-Pierre Siffroi
Fertility and Sterility, 2022, 118 (2), pp.425. ⟨10.1016/j.fertnstert.2022.05.023⟩
Journal articles inserm-03855779v1
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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

Capucine Hyon , Sandra Chantot-Bastaraud , Radu Harbuz , Rakia Bhouri , Nicolas Perrot , et al.
American Journal of Medical Genetics Part A, 2015, 167A (8), pp.1851-8. ⟨10.1002/ajmg.a.37101⟩
Journal articles istex hal-01311723v1
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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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Prevalence and characteristics of gonadoblastoma in a retrospective multi-centre study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype

Daphné Karila , Bruno Donadille , Juliane Leger , Claire Bouvattier , Anne Bachelot , et al.
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
Journal articles inserm-03851939v1
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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