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Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63591
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- Publication type:
- Article
A single base pair duplication in the SLC33A1 gene is associated with fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep.
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- Animal Genetics, 2024, v. 55, n. 4, p. 644, doi. 10.1111/age.13459
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- Publication type:
- Article
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
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- Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Publication type:
- Article
Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability.
- Published in:
- Genetics Selection Evolution, 2024, v. 56, n. 1, p. 1, doi. 10.1186/s12711-024-00886-7
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- Publication type:
- Article
The Neurod1/4-Ntrk3-Src pathway regulates gonadotrope cell adhesion and motility.
- Published in:
- Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01615-7
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- Publication type:
- Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
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- Publication type:
- Article
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
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- Publication type:
- Article
Executive functioning in adolescents and adults with Silver-Russell syndrome.
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- PLoS ONE, 2023, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0279745
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- Article
A Possible Pathway to the C-Suite for Every Woman.
- Published in:
- AI Practitioner, 2022, v. 24, n. 4, p. 50, doi. 10.12781/978-1-907549-53-3-9
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- Publication type:
- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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- Publication type:
- Article
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30443-z
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- Publication type:
- Article
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349
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- Publication type:
- Article
Variability in Global DNA Methylation Rate Across Tissues and Over Time in Sheep.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.791283
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- Publication type:
- Article
Estradiol promotes cell survival and induces Greb1 expression in granulosa cell tumors of the ovary through an ERα‐dependent mechanism.
- Published in:
- Journal of Pathology, 2022, v. 256, n. 3, p. 335, doi. 10.1002/path.5843
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- Publication type:
- Article
A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 45, doi. 10.3390/genes13010045
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- Publication type:
- Article
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25844-5
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- Publication type:
- Article
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
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- 2021
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- Publication type:
- journal article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1109, doi. 10.1007/s00439-021-02283-2
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- Publication type:
- Article
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918
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- Publication type:
- Article
Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22470-z
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- Publication type:
- Article
Le test de concordance de script à l'heure de la réforme du second cycle des études médicales en France : étude pilote en génétique médicale.
- Published in:
- Pédagogie Médicale, 2021, v. 22, n. 2, p. 67, doi. 10.1051/pmed/2021005
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- Publication type:
- Article
New Anti-Müllerian Hormone Target Genes Involved in Granulosa Cell Survival in Women With Polycystic Ovary Syndrome.
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- 2021
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- Publication type:
- journal article
A novel homozygous nonsense mutation in ITGB4 gene causes epidermolysis bullosa in Mouton Vendéen sheep.
- Published in:
- Animal Genetics, 2021, v. 52, n. 1, p. 138, doi. 10.1111/age.13026
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- Publication type:
- Article
Genetic Determinism Exists for the Global DNA Methylation Rate in Sheep.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.616960
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- Publication type:
- Article
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
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- Publication type:
- Article
Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2803, doi. 10.1002/ajmg.a.61811
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- Publication type:
- Article
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
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- Clinical Genetics, 2020, v. 98, n. 4, p. 374, doi. 10.1111/cge.13807
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- Publication type:
- Article
Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1499, doi. 10.1002/humu.24070
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- Publication type:
- Article
Genome-Wide Identification of a Regulatory Mutation in BMP15 Controlling Prolificacy in Sheep.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00585
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- Publication type:
- Article
ERα orchestre les mécanismes épigénétiques qui déclenchent l'expression du gène Sf-1 au cours de la différenciation du lignage gonadotrope hypophysaire.
- Published in:
- Médecine Sciences, 2020, v. 36, n. 6/7, p. 562, doi. 10.1051/medsci/2020103
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- Publication type:
- Article
Multi-classifier prediction of knee osteoarthritis progression from incomplete imbalanced longitudinal data.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64643-8
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- Publication type:
- Article
Prenatal programming by testosterone of follicular theca cell functions in ovary.
- Published in:
- Cellular & Molecular Life Sciences, 2020, v. 77, n. 6, p. 1177, doi. 10.1007/s00018-019-03230-1
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- Article
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
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- Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
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- Publication type:
- Article
Identification of a pituitary ERα-activated enhancer triggering the expression of Nr5a1, the earliest gonadotrope lineage-specific transcription factor.
- Published in:
- Epigenetics & Chromatin, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13072-019-0291-8
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- Publication type:
- Article
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1351, doi. 10.1002/ajmg.a.61177
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- Publication type:
- Article
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0839-2
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- Publication type:
- Article
Production d'œstradiol par l'ovaire lors de la mini-puberté: Importance du dialogue entre les hormones FSH et AMH.
- Published in:
- Médecine Sciences, 2019, v. 35, n. 3, p. 201, doi. 10.1051/medsci/2019042
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- Publication type:
- Article
Novel Approach to Estimate Osteoarthritis Progression: Use of the Reliable Change Index in the Evaluation of Joint Space Loss.
- Published in:
- 2019
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- Publication type:
- journal article
GnRH regulates the expression of its receptor accessory protein SET in pituitary gonadotropes.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201494
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- Publication type:
- Article
Inactivation of <italic>AMMECR1</italic> is associated with growth, bone, and heart alterations.
- Published in:
- Human Mutation, 2018, v. 39, n. 2, p. 281, doi. 10.1002/humu.23373
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- Publication type:
- Article
Revealing the selection history of adaptive loci using genome-wide scans for selection: an example from domestic sheep.
- Published in:
- BMC Genomics, 2018, v. 19, p. 1, doi. 10.1186/s12864-018-4447-x
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- Publication type:
- Article
Corrigendum: Non integrative strategy decreases chromosome instability and improves endogenous pluripotency genes reactivation in porcine induced pluripotent-like stem cells.
- Published in:
- Scientific Reports, 2018, p. 46931, doi. 10.1038/srep46931
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- Publication type:
- Article
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
- Published in:
- 2017
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- Publication type:
- Case Study
Genome-Wide Identification of the Mutation Underlying Fleece Variation and Discriminating Ancestral Hairy Species from Modern Woolly Sheep.
- Published in:
- Molecular Biology & Evolution, 2017, v. 34, n. 7, p. 1722, doi. 10.1093/molbev/msx114
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- Publication type:
- Article
The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 612, doi. 10.1007/s10897-016-0033-z
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- Publication type:
- Article
A novel action of follicle-stimulating hormone in the ovary promotes estradiol production without inducing excessive follicular growth before puberty.
- Published in:
- Scientific Reports, 2017, p. 46222, doi. 10.1038/srep46222
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- Publication type:
- Article
Sub-Saharan red cell antigen phenotypes and glucose-6-phosphate dehydrogenase deiciency variants in French Guiana.
- Published in:
- Malaria Journal, 2016, v. 13, p. 1, doi. 10.1186/s12936-016-1365-8
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- Publication type:
- Article
Non integrative strategy decreases chromosome instability and improves endogenous pluripotency genes reactivation in porcine induced pluripotent-like stem cells.
- Published in:
- Scientific Reports, 2016, p. 27059, doi. 10.1038/srep27059
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- Publication type:
- Article
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0253-9
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- Publication type:
- Article