browse-meta - Génétique des pathologies liées au développement

Intellectual disability 24

Holoprosencephaly 14

Epilepsy 7

Genetics 6

Genomics 6

Humans 6

Neurodevelopmental disorder 6

Cohesin 5

Cornelia de Lange syndrome 5

NIPBL 5

Phenotype 5

Array-CGH 4

Genome sequencing 4

Glioblastoma 4

Hypothalamus 4

Mosaicism 4

Neurodevelopmental disorders 4

SHH 4

Transcriptomics 4

Adult 3

Autism spectrum disorder 3

Developmental and epileptic encephalopathy 3

Exome sequencing 3

Female 3

Gene expression 3

Genetic counseling 3

Genotype 3

Iron 3

Male 3

Mutation 3

Notch 3

Personalized medicine 3

Sonic hedgehog 3

Whole exome sequencing 3

ACGH 2

ANKRD11 2

Abnormalities 2

Adolescent 2

Adults 2

Aortic dissection 2

Array CGH 2

Autism 2

Brain development 2

Brain malformation 2

CNV 2

CYP450 2

Cancer 2

Cell Cycle 2

Child 2

Chromatin 2

Cohort Studies 2

Congenital 2

Congenital malformations 2

Copy number variation 2

Cost-effectiveness 2

DNA methylation 2

DNA-Binding Proteins 2

De novo variants 2

Developmental delay 2

Embryonic 2

Epigenetics 2

FISH 2

FOXE3 2

Facial dysmorphism 2

Fetal 2

France 2

GRIA3 2

Genetic 2

Genetic Diseases 2

Genotype-phenotype 2

Global developmental delay 2

HPE 2

Hemochromatosis 2

Holoprosencéphalie 2

Human 2

Hypotonia 2

Infant 2

Intellectual Disability 2

KBG syndrome 2

KCNB1 2

Kabuki syndrome 2

MAU2 2

Marfan syndrome 2

Mental retardation 2

Mice 2

Micro-costing 2

Microphthalmia 2

Molecular biology 2

Multiple 2

Multiplex 2

Next generation sequencing 2

Oligogenic inheritance 2

PAX6 2

Panel 2

Pharmacogenetics 2

Premature ovarian insufficiency 2

Prenatal 2

Prenatal diagnosis 2

Preschool 2

Proteomics 2

SOX2 2

Seizures 2

Short stature 2

Silver-Russell syndrome 2

Splicing 2

Ubiquitin 2

X-Linked 2

Young Adult 2

11p15 Epimutation 1

11p15 region 1

11q24 deletion 1

12q15q211 microdeletion 1

16q241 duplication 1

1q44 1

22q11 1

22q112 region 1

2p243 duplication 1

2q311q312 duplication 1

3-KINASE 1

5q121 deletion 1

5q143 microdeletion 1

ACPA 1

ACTB 1

ADGRL2 1

AKT2 1

AMER1 1

AMPA receptor 1

AMPAR 1

AP-1 complex 1

ARHGAP32 1

ARID1A 1

ARID1B 1

ARID1B BAFopathy 1

ASD 1

ATP7A 1

AUTOPHOSPHORYLATION 1

Aberrant splicing 1

Abnormal phenotype 1

Actin remodeling 1

Actins 1

Adams-Oliver syndrome 1

Adaptive behavior 1

Adhesion 1

Adhesion-GPCR 1

Adipose tissue 1

Adolescents 1

Adrenal Hyperplasia 1

Aged 1

Alpha-latrotoxin 1

Alternative splicing 1

Amyloidosis 1

Analyse d'ARN-Seq 1

Animals 1

Anophthalmia 1

Anterior segment dysgenesis 1

Anti-EGFR mAb 1

Anti-müllerian hormone 1

Antiepileptic drug 1

Antineoplastic Combined Chemotherapy Protocols 1

Anxiety 1

Aorta 1

Aortic dilatation 1

Aplasia cutis congenita of scalp 1

Apoptosis 1

Apparently balanced translocations 1

Arrhythmias 1

Arthrogryposis 1

Artificial intelligence 1

Ascl1 1

Assisted reproductive technologies 1

Asymétrie hémi-corporelle 1

Attenuation 1

Aurora A 1

Aurora-A 1

Autism Spectrum Disorder 1

Autism spectrum disorders 1

Autistic features 1

Autophagy 1

Auxilin-1 1

B-Cell 1

B3GLCT 1

BAF-complex 1

BAP1 1

BBS1 1

BIS 1

BMP 1

BRCA1 1

BRCA2 1

Balanced translocation 1

Bardet-Biedl syndrome 1

Basisphenoid bone 1

Beckwith-Wiedemann syndrome 1

Beckwith–Wiedemann 1

Bevacizumab 1

Biochemistry 1

Bioethics law 1

Biofilm 1

Bioinformatics 1

Bioinformatique 1

Biological 1

Biological Markers 1

Biologie du développement 1

Biomarker 1

Blast Crisis 1

Blood Chemical Analysis 1

Brain size 1

Branchial arch 1

Buccal cells 1

CAMK2 1

CAMK2A 1

CAMK2B 1

CARPAL-TUNNEL-SYNDROME 1

CDKN1C 1

CGH array 1

CHAMP1 1

CHD6 protein 1

CHIME syndrome 1

CLASSIFICATION 1

CMA 1

CNGB1 gene 1

CNOT1 1

CRISPR-Cas9 1

CUL4B 1

CYFIP1 1

CYP2C 1

Cancer biology 1

Candidate loci 1

Candidate loci molecular diagnosis 1

Carbaglumic acid 1

Cardiac 1

Cardiology 1

Cardiovascular disease 1

Case report 1

Cat eye syndrome 1

CdLS 1

Cell Biology 1

Cell Proliferation 1

Cell-based functional assays 1

Central Nervous System Diseases 1

Centriolar barrel 1

Centrosome 1

Cerebellar ataxia 1

Cerebellar diseases 1

Cerebral development 1

ChIP sequencing 1

Channel inactivation 1

Checkpoint 1

Chemical binding 1

Chga 1

Chicken 1

Cholesterol 1

Choriocarcinoma 1

Chromatin Assembly and Disassembly 1

Chromatin assembly and disassembly 1

Chromatin remodeling 1

Chromosomal imbalance 1

Chromosomal rearrangements 1

Chromosome 1

Chromosome 9 1

Chromosome marqueur surnuméraire 1

Chromosome rearrangement 1

Chronic intestinal pseudoobstruction 1

Classification 1

Cleft palate 1

Clinical Laboratory Techniques 1

Clinical biomarker 1

Clinical diagnoses 1

Clinical practice 1

Clk 1

Coaggregation 1

Codon 1

Codon usage 1

Coffin–Siris syndrome 1

Cognitive profile 1

Cohesinopathy 1

Coloboma 1

Colorectal cancer 1

Complex disorder 1

Complex disorders 1

Complex traits 1

Computational Biology 1

Computerized decision support systems 1

Conditional mutagenesis 1

Congenital heart disease 1

Congenital malformation 1

Congenital nasal piriform aperture stenosis 1

Connective tissue disorder 1

Copy number variations 1

Corpus callosum 1

Corpus callosum agenesis 1

Cortical dysplasia 1

Cost analysis 1

Costello 1

Cranial sclerosis 1

Craniofacial development 1

Creatinine 1

Cryptozoospermia 1

Cytoplasmic granules 1

D'épissage de pré-ARNm 1

DDX1 1

DEAF1 1

DFNB31 1

DISP1 1

DNA 1

DNA Damage 1

DNA Helicases 1

DNA binding protein 1

DNA damage 1

DNA helicase 1

DNA methylation analysis 1

DPYSL5 1

DSD 1

De novo missense variants 1

De novo mutations 1

Deletion 1

Dendrite branching 1

Deubiquitination 1

Development 1

Developmental Disabilities 1

Developmental abnormalities 1

Developmental biology 1

Developmental disabilities 1

Developmental disorder 1

Developmental encephalopathy 1

Developmental neurobiology 1

Dexamethasone 1

Diabetes 1

Diagnostic odyssey 1

Diagnostic strategy 1

Differential splicing 1

Dilatation 1

Discoidin domain receptor 2 1

Disease genes 1

Drosophila 1

Drug-resistant epilepsy 1

Dual molecular effects 1

Dysautonomia 1

Dysmorphic features 1

Dysmorphism 1

Délétion Xq 1

Développement neurologique 1

ETS1 1

EXPRESSION 1

Early axon scaffold 1

Echocardiography 1

Ectasia 1

Electron cryo tomography 1

Embryonic brain 1

Enamel hypoplasia 1

Enzyme activity 1

Epidermoid lung carcinoma 1

Epigenomics 1

Epileptic encephalopathy 1

Ethical issues 1

Evolution 1

Exome 1

Exome Sequencing 1

Expert consensus 1

Expression 1

Expression génique 1

Extracellular matrix 1

Eye anomalies 1

FAM36A 1

FGF signaling pathway 1

FLI1 1

FLNA 1

FMD 1

FMR1 1

FOSL2 1

FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome 1

FOXF1 1

FRA-2 1

Fabry disease 1

Face 1

Facies 1

Familial amyloidosis 1

Familial disease 1

Fanconi anemia 1

Female infertility 1

Femme 1

Fertility preservation 1

Fetal Therapies 1

Fetal autopsy 1

Fetal growth 1

Fetal prognosis 1

Fetal urinary tract malformations 1

Fetal valproate syndrome 1

Filamin A 1

Finger crease 1

Floating Harbor syndrome 1

Floating-Harbor syndrome 1

Focal adhesion 1

Foetal 1

Founder effect 1

Frameshift Mutation 1

Franceschetti syndrome 1

Frontometaphyseal dysplasia 1

Functional analysis 1

GDF6 1

GENETIC SKELETAL DISORDERS 1

GPR98 1

GREB1L 1

GRIA 1

GROWTH 1

GWAS 1

Gabriele-de Vries syndrome 1

Gene Deletion 1

Gene Editing 1

Gene Expression 1

Gene Expression Profiling 1

Gene disrupted 1

Gene editing 1

Gene panel 1

General 1

General practice 1

Genetic Association Studies 1

Genetic Markers 1

Genetic Research 1

Genetic Testing 1

Genetic background 1

Genetic counselling 1

Genetic disease 1

Genetic disorders 1

Genetic heterogeneity 1

Genetic testing 1

Genetics of infertility 1

Genital 1

Genital prolaps 1

Genome 1

Genomic imprinting 1

Genotype-phenotype correlation 1

Genotype-phenotype correlations 1

Genotype–phenotype study 1

Genotyping Techniques 1

Gestational choriocarcinoma 1

Gestational trophoblastic disease 1

Gigantism 1

Gingipains 1

Glioblastomas 1

Glomerular Filtration Rate 1

Glypicans 1

Guideline 1

Gynecologic issue 1

H3K4 methylation 1

HDAC8 1

HFE-hemochromatosis 1

HMGB1 1

HNRNPU 1

HOXD cluster 1

HP1 1

HPO-based analysis 1

HRAS gene 1

HYPOGLYCEMIA 1

Haemochromatosis 1

Hallermann Streiff syndrome 1

Hallermann's Syndrome 1

Hallermann-Streiff Syndrome SMC2 variant 1

Haploinsufficiency 1

Heart Defects 1

Heart defect 1

Hemagglutinin-adhesion domain 1

Hematologic Diseases 1

Hepcidin 1

Hereditary renal agenesis 1

High-throughput sequencing 1

Histone 2A 1

Histone Demethylases 1

Histone acetylation 1

Histopathology 1

HnRNP 1

Holoprosencephalie 1

Holoprosencephaly HPE 1

Homozygosity mapping 1

Human extreme microcephaly 1

Hurler-Scheie disease 1

Hydrocephalus 1

Hyperammonemia 1

Hypertrophie des petites lèvres 1

Hypomorphic mouse model 1

Hypomorphic variants 1

Hypoplasia 1

ICP/MS 1

ICPL 1

ICSI 1

IQSEC2 1

IRF6 1

IVF 1

Immunity 1

Imprinting 1

Imprinting disorders 1

Inborn 1

Incidental finding 1

Incidental findings 1

Infertility 1

Insufficiency 1

Insulin Resistance 1

Integrative functional genomics 1

Intellectual assessment 1

Intersphenoid synchondrosis 1

Interstitial deletion 1

Interstitial duplication 1

Intrachromosomal paracentric direct insertion 1

Intratumor heterogeneity 1

Intrauterine growth restriction 1

Invasion 1

Iron overload 1

Isochromosome 1

Isoforms 1

Jacobsen syndrome 1

JetPRIME 1

Juvenile 1

KCC2 1

KCNB2 1

KDM6A 1

KIF2A gene 1

KINASE 1

KMT2D 1

KMT2E 1

Karyotype 1

Kidney 1

Kinetochores 1

Klinefelter 1

LBR 1

LPHN2 1

Labia minora hypertrophy 1

Language development disorders 1

Leptin receptor 1

Leukemia 1

Li-Fraumeni syndrome 1

Lipoatrophy 1

Lipodystrophy 1

Lipogenesis 1

Lithium 1

Liver 1

Liver tissue 1

LoF 1

Local 1

Loeys-Dietz syndrome 1

Long-read sequencing 1

Loss of function mutation 1

Loss-of-function 1

Lung neoplasms 1

Lymphocyte Count 1

MARK2 variants 1

MECP2 gene 1

MEF2C 1

MICE LACKING 1

MITF 1

MLL2 1

MLPA 1

MNS 1

MRKH syndrome 1

MUTATIONS 1

MYCN 1

MYH11 1

Magnetic Resonance Imaging 1

Maladies complexes 1

Maladies génétiques 1

Malformations 1

Malformations of Cortical Development 1

Malrotation 1

Management 1

Marfan 1

Maternal-Fetal Exchange 1

Mayer-Rokitansky-Kuster-Hauser syndrome 1

Medial longitudinal fascicle 1

Medical education 1

Medical exome 1

Medical student 1

Medicine/Public Health 1

Melanoma 1

Melnick-Needles 1

Menkes disease 1

Metabolism 1

Metal 1

Metastasis 1

Methylation 1

MiR-31-3p 1

Microarray 1

Microbiology 1

Microcephaly 1

Microtubule triplet 1

Microtubules 1

Midline defects 1

Minimal reference strategy 1

Minor introns 1

Minor spliceosome 1

Missense variants 1

Mitosis 1

Mobile element insertion 1

Molecular analysis 1

Molecular diagnostics 1

Molecular genetics 1

Molecular pathophysiology 1

Molecular strategy 1

Molecular targeted therapy 1

Molecular tumor board 1

Mosacism 1

Mosaic 1

Mosaïque 1

Motor impairment 1

Mouse 1

Mucopolysaccharidosis type I 1

Mullerian aplasia 1

Multi-factorial inheritance 1

Multigenic Inheritance 1

Multigenic inheritance 1

Multigenism 1

Multigénisme 1

Müllerian duct anomalies 1

N-acetylglutamate synthase deficiency 1

NEFL 1

NMDAR 1

NOSOLOGY 1

NOTCH 1

NSD3 1

NcRNA 1

Neoplasm Metastasis 1

Neoplasm Proteins 1

Neoplasm Recurrence 1

Nephroblastomatosis 1

Nerve Tissue Proteins 1

Nerve protein 1

Nervous system malformations 1

Neurodevelopment 1

Neurodevelopmental delay 1

Neurodevelopmental disease 1

Neuroectodermal disorder 1

Neurogenin 1

Neuromuscular disorder 1

Neuron 1

Neuronal differentiation 1

Neurone 1

Newborn 1

Nicolaides–Baraitser syndrome 1

Non-aortic aneurysm 1

Non-syndromic cleft lip 1

Nonsense 1

Nonsense mutation 1

Noonan syndrome 1

Novel clinical feature 1

Nuclear Proteins 1

Nuclear envelope instability 1

Nuclear speckles 1

OB-RGRP/endospanin-1 1

OPD2 1

OTX2 1

Obesity 1

Occipital horn syndrome 1

Ocular anomalies 1

Oligogenism 1

Oligonucleotide Array Sequence Analysis 1

Oncology 1

Optical genome mapping 1

Orofaciodigital syndrome 1

Osteoblast 1

Osteopathia striata 1

Osteopetrosis 1

Osteoporosis 1

Otopalatodigital 1

Ovarian failure 1

Overgrowth syndrome 1

PCA 1

PIGL 1

PIK3R1 gene 1

PITX3 1

POGZ 1

POLR1D 1

PPS 1

PSMD12 1

Pancreas agenesis 1

Panel sequencing 1

Parental questionnaires 1

Parental transmission 1

Pathology 1

Patient participation 1

Pelger-Huët anomaly 1

Peritumoral brain zone 1

Peters' anomaly 1

Pharmacology/Toxicology 1

Phenotype–genotype correlations 1

Phosphorylation 1

Physiology 1

Pioneering axons 1

Plant Physiology 1

Polymalformative symdrome 1

Position effect 1

Post-mortem examination 1

Potassium channel 1

Potassium channels 1

Pre-MRNA splicing 1

Pre-test information 1

Precision medicine 1

Precocious puberty 1

Precursor Cell Lymphoblastic Leukemia-Lymphoma 1

Pregnancy 1

Prenatal Diagnosis 1

Prenatal renal function 1

Primary cilia 1

Primary cilium 1

Primary neuronal cultures 1

Primary ovarian insufficiency 1

Procentiole 1

Progeroid disorder 1

Prognosis 1

Prolapsus pelvien 1

Proneural genes 1

Prosencephalon 1

Prosencéphale 1

Proteasome 26S 1

Protein 1

Proteomic 1

Protéines SR 1

Pseudodicentric chromosome 1

Psychologie cognitive 1

Psychometric evaluation 1

Puberté précoce 1

QRICH1 1

Qualitative research 1

Qualitative stud 1

RAS signaling 1

RAX 1

RECEPTOR 1

REVISION 1

RNA 1

RNA Interference 1

RNA-seq 1

RORA 1

RPN5 1

Rare disease 1

Rbpj 1

Rearrangements 1

Renal 1

Renal adysplasia 1

Renal and Mullerian duct hypoplasia 1

Renal dysplasia 1

Repression 1

Reproductive medicine 1

Rescue mechanism 1

Retinitis pigmentosa 1

Retinoic acid 1

Retrospective Studies 1

Rhombencephalosynapsis 1

Risk Factors 1

SATB1 1

SC35 1

SENCR 1

SHORT syndrome 1

SIX3 1

SKELETAL-MUSCLE 1

SMARCA2 1

SMARCA4 1

SMARCB1 1

SOS2 1

SPNS2 1

SR proteins 1

SRCAP 1

STAG2 1

STAGA complex 1

SUPT7L 1

SVA F 1

SYN1 1

Sartan 1

Segmentation defect of the vertebrae 1

Seizure 1

Self-esteem 1

Sensitivity and Specificity 1

Sex Determination Analysis 1

Shh 1

Short Bowel Syndrome 1

Silver-russell syndrome 1

Simca 1

Skraban-Deardorff syndrome 1

Small Interfering 1

Small supernumerary marker chromosome sSMC 1

Smith-Lemli-Opitz syndrome 1

Social deficits 1

Solitary median maxillary central incisor 1

Somatic mosaicism 1

Somatic mutation 1

Sonic Hedgehog 1

Speckles 1

Speech therapy 1

Sphingosine-1-phosphate 1

Spina bifida 1

Spindle 1

Spliceosome 1

Spondylocostal dysostosis 1

Squamous cell lung carcinoma 1

Structural variation 1

Sudden unexpected death in epilepsy 1

Suivi gynécologique 1

Synaptic plasticity 1

Syndactyly 1

Syndrome de Silver-Russel 1

Syndromic neurodevelopmental disorder 1

Synonymous variants 1

Séquençage à haut débit 1

TCOF1 1

TGFB3 1

TGIF 1

TMEM147 1

TOPORS 1

TP53 1

TRRAP 1

Taches nucléaires 1

Tagln3 1

Targeted NGS 1

Teeth abnormalities 1

Teratogen 1

Tetrasomy 9p 1

Tract of the posterior commisure 1

Tract of the postoptic commissure 1

Transcriptome sequencing 1

Transcriptomopathy 1

Transfection 1

Transferrin 1

Transferrin receptor 2 1

Transforming growth factor beta 3 1

Translational research 1

Translocon dysfunction 1

Treacher Collins syndrome 1

Trisomy 18 1

Tumor 1

Tumor Markers 1

U4atac 1

UPS 1

Ubiquitin-proteasome system 1

Ultrasound 1

Undiagnosed neurodevelopmental diseases 1

Urea cycle defect 1

Urogenital abnormalities 1

Usher syndrome 1

Uterine anomalies 1

Uterine transplantation 1

V30M 1

VACTERL‐H 1

VSX2 1

VWS 1

Variable expressivity 1

Variant 1

Variant hypomorphes oligogénismedéveloppement cérébral 1

Vestibular Diseases 1

Virilism 1

Voltage-gated potassium channels 1

WDFY3 1

WDR26 1

WDR62 1

WNK3 1

WNT/β-catenin signaling pathway 1

Whole Exome Sequencing 1

Whole genome sequencing 1

Wiedemann-Rautenstrauch syndrome 1

Wilms tumor 1

Women 1

X chromosome 1

X-inactivation 1

X-linked 1

X-linked distal spinal muscular atrophy-3 1

X-linked inheritance 1

X-linked intellectual disability 1

Xq28 duplication 1

YY1 1

ZIC2 1

ZRSR2 1

Épissage alternatif 1

ÉsInsuffisance ovarienne prématurée 1

Β-actin 1