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CARTOHAL
Country | Number of publications |
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Mots clés
Karyotype
Classification
Insulin resistance
Pulmonary hypertension
Pneumopathie interstitielle commune
Autoinflammatory disease
Penetrance
SARS-CoV-2
Phenotype
Cohort
Management
Pyrin
Idiopathic pulmonary fibrosis
Female
CRISPR-Cas9
Inflammasome
Cytokines
Amylose AA
Infertility
Human
A20 haploinsufficiency
Fertility
Electron microscopy
Prognosis
Situs inversus
Paediatric interstitial lung disease
Mosaic
Premature ovarian insufficiency
Interstitial lung disease
Biomarkers
Amyloidosis
Serum amyloid A
France
Surfactant
Pregnancy
Kartagener syndrome
Pyrine
Dynein arm assembly
Pulmonary fibrosis
NLRP3
Fibrose pulmonaire
Biopsie
GHRHR
Mutation
Pneumopathie interstitielle diffuse
Autoimmunity
Osteosarcoma
Intellectual disability
Male infertility
Founder effect
Familial mediterranean fever
Common interstitial lung disease
Colchicine
Humans
AA amyloidosis
Cystic fibrosis
Fièvre méditerranéenne familiale
Mutations
Infant
MEFV
Cilia
TNFAIP3
Autoinflammatory syndrome
Pituitary
Hyperandrogenism
Rare lung diseases
NGS
COVID-19
Bronchiectasis
Turner syndrome
Genetic counselling
Sarcoidosis
Vasculitis
NLRC4
ABCA3
Diagnosis
PCD
ICSI
Dynein
TNFRSF1A
TCF4
Primary ciliary dyskinesia
CCDC39
Children
Familial Mediterranean fever
Interleukine 1
Inflammation
Lung function
Maladies auto-inflammatoires
Male
Lipodystrophy
Rare diseases
Genetics
TRAPS
Autoinflammation
Biopsy
Genetic analysis
Atherosclerosis
Mortality
Derniers dépôts
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Juliette Quilichini, Sandrine Perol, Laurence Cuisset, Sarah Grotto, Corinne Fouveaut, et al.. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene. American Journal of Medical Genetics Part A, 2023, 194 (4), pp.e63479. ⟨10.1002/ajmg.a.63479⟩. ⟨inserm-04811409⟩
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Penelope Jordan, Camille Verebi, Berenice Hervé, Sandrine Perol, Zeina Chakhtoura, et al.. Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.. Clinical Genetics, 2024, Clinical Genetics, 106 (1), pp.102-108. ⟨10.1111/cge.14526⟩. ⟨hal-04749744⟩