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Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
- Published in:
- 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
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
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
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
- Published in:
- Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
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- Publication type:
- Article
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 374, doi. 10.1111/cge.13807
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- Publication type:
- Article
Executive functioning in adolescents and adults with Silver-Russell syndrome.
- Published in:
- PLoS ONE, 2023, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0279745
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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
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
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
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
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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
A single base pair duplication in the SLC33A1 gene is associated with fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep.
- Published in:
- Animal Genetics, 2024, v. 55, n. 4, p. 644, doi. 10.1111/age.13459
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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
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
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 881, doi. 10.1038/ejhg.2013.263
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- Publication type:
- Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
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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
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
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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- Publication type:
- Article
New Anti-Müllerian Hormone Target Genes Involved in Granulosa Cell Survival in Women With Polycystic Ovary Syndrome.
- Published in:
- 2021
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- Publication type:
- journal 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
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
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
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
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
- Published in:
- 2021
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- Publication type:
- journal 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
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
Characterization of MCH -gene-overprinted-polypeptide-immunoreactive material in hypothalamus reveals an inhibitory role of pro-somatostatin<sub>1−64</sub> on somatostatin secretion.
- Published in:
- European Journal of Neuroscience, 2004, v. 19, n. 4, p. 925, doi. 10.1111/j.0953-816X.2004.03187.x
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- Publication type:
- Article
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
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- Publication type:
- Article
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
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
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 187, doi. 10.1002/humu.22729
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- Publication type:
- Article
Congenital Heart Defects in Patients with Deletions Upstream of SOX9.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1628, doi. 10.1002/humu.22449
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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
AMPA-sst2 somatostatin receptor interaction in rat hypothalamus requires activation of nmda and/or metabotropic glutamate receptors and depends on intracellular calcium.
- Published in:
- Journal of Physiology, 2003, v. 546, n. 1, p. 101, doi. 10.1113/jphysiol.2002.025890
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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
- By:
- 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
The Neurotrophins NT3 and BDNF Induce Selective Specification of Neuropeptide Coexpression and Neuronal Connectivity in Arcuate and Periventricular Hypothalamic Neurons in vitro.
- Published in:
- Neuroendocrinology, 2002, v. 75, n. 1, p. 55, doi. 10.1159/000048221
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- Publication type:
- Article
Brain-Derived Neurotrophic Factor But Not Neurotrophin-3 Enhances Differentiation of Somatostatin Neurons in Hypothalamic Cultures.
- Published in:
- Neuroendocrinology, 2000, v. 72, n. 3, p. 144, doi. 10.1159/000054581
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- Publication type:
- Article
Co-creating a Shared Vision Post-Covid a Health and Human Services Organisation.
- Published in:
- AI Practitioner, 2024, v. 26, n. 3, p. 84, doi. 10.12781/978-1-907549-60-1-11
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- Publication type:
- 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
- By:
- 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
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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- 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
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
Limb overgrowth associated with a mosaic TSC2 second‐hit in tuberous sclerosis complex.
- Published in:
- 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
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
A new case of bent bone dysplasia-FGFR2 type and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 785, doi. 10.1002/ajmg.a.37473
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- Publication type:
- Article