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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.
Journal articles
hal-01560200v1
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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 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.
Journal articles
hal-03489514v1
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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.
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.
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.
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
Journal articles
inserm-03867576v1
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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 articles
inserm-03780515v1
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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
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Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
Matthieu Peycelon
,
Lamisse Mansour-Hendili
,
Capucine Hyon
,
Nathalie Collot
,
Muriel Houang
,
et al.
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.
Journal articles
inserm-01181008v1
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CGH-Array et insuffisances ovariennes primitives.
Jean-Pierre Siffroi
Société de Biologie, Jan 2017, Paris (en ligne), France
Conference papers
inserm-04125384v1
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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.
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.
Journal articles
inserm-03798540v1
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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 articles
inserm-03780478v1
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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.
Journal articles
inserm-04133897v1
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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 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.
Journal articles
inserm-00369261v1
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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.
Journal articles
inserm-03856183v1
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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 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.
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.
Journal articles
inserm-00697436v1
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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
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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.
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
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.
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.
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.
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.
Journal articles
hal-02315263v1
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