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JAMA Pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 10, pp. 940 - 941
Journal Article
Biochemistry and Cell Biology, ISSN 0829-8211, 2018, Volume 96, Issue 2, pp. 231 - 236
This paper discusses the current state of knowledge and practice for diagnosing fetal alcohol spectrum disorder (FASD). The strengths and challenges of... 
équipe multidisciplinaire | imagerie | multidisciplinary team | genetics | guidelines | génétique | lignes directrices | imaging | epigenetics | épigénétique
Journal Article
Journal of Medical Genetics, ISSN 0040-6376, 02/2001, Volume 56, Issue 2, p. 89
BackgroundKabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the... 
Journal Article
Biochemistry and Cell Biology, ISSN 0829-8211, 2018, Volume 96, Issue 2, pp. vii - viii
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2005, Volume 68, Issue 4, pp. 332 - 336
Journal Article
Circulation, ISSN 0009-7322, 03/2004, Volume 109, Issue 11, pp. 1354 - 1358
Background - Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations... 
Angiogenesis | Cerebrovascular disorders | Aneurysm | Vasculature | aneurysm | vasculature | CARDIAC & CARDIOVASCULAR SYSTEMS | angiogenesis | ARTERIOHEPATIC DYSPLASIA | MOYAMOYA | BILE-DUCTS | DISEASE | LIVER | PERIPHERAL VASCULAR DISEASE | JAGGED1 | MUTATIONS | LIGAND | cerebrovascular disorders | ABDOMINAL COARCTATION | EXPRESSION | Abnormalities, Multiple - pathology | Renal Artery Obstruction - etiology | Aneurysm - etiology | Blood Vessels - abnormalities | Humans | Alagille Syndrome - pathology | Aortic Aneurysm - etiology | Aortic Coarctation - etiology | Blood Vessels - embryology | Alagille Syndrome - genetics | Receptors, Notch | Membrane Proteins - physiology | Serrate-Jagged Proteins | Abnormalities, Multiple - epidemiology | Adult | Retrospective Studies | Child | Abnormalities, Multiple - genetics | Jagged-1 Protein | Aneurysm - epidemiology | Proteins - physiology | Calcium-Binding Proteins | Carotid Artery Diseases - etiology | Signal Transduction | Neovascularization, Physiologic - genetics | Aortic Aneurysm - epidemiology | Intercellular Signaling Peptides and Proteins | Moyamoya Disease - epidemiology | Carotid Artery Diseases - epidemiology | Intracranial Aneurysm - epidemiology | Proteins - genetics | Renal Artery Obstruction - epidemiology | Intracranial Aneurysm - etiology | Moyamoya Disease - etiology | Alagille Syndrome - mortality | Aortic Coarctation - epidemiology | Cohort Studies
Journal Article
Biochemistry and Cell Biology, ISSN 0829-8211, 2018, Volume 96, Issue 2, pp. 231 - 236
Journal Article
Journal of Epidemiology and Community Health, ISSN 0143-005X, 10/2013, Volume 67, Issue 10, pp. e2 - e2
Introductions Prenatal alcohol exposure can lead to a myriad of adverse health outcomes for the child, including Fetal Alcohol Spectrum Disorder (FASD).... 
Journal Article
Biochemistry and Cell Biology, ISSN 0829-8211, 2018, Volume 96, Issue 2, pp. 161 - 166
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence... 
fetal alcohol spectrum disorder | troubles du spectre de l’alcoolisation fœtale | TSAF | CNV | variabilité du nombre de copies | FASD | copy number variations
Journal Article
Clinical Genetics, ISSN 0009-9163, 05/2004, Volume 65, Issue 5, pp. 352 - 357
Journal Article
2012, 2012, ISBN 9781461433743, Volume 169, Issue 11, 5
One of the most tragic outcomes of a woman’s addiction to or abuse of alcohol is the effects on the unborn child. Fetal Alcohol Spectrum Disorder (FASD) is... 
Neurology | Pain Medicine | Medicine & Public Health | Internal Medicine | Primary Care Medicine | Anesthesiology | Psychiatry | WOMEN | MEDICINE, GENERAL & INTERNAL | RECOGNITION | RISK | PRENATAL ALCOHOL | PREVALENCE | IDENTIFICATION | MECONIUM | EXPOSURE | PREGNANCY | Children of alcoholics | Pregnancy | Fetal alcohol syndrome | Treatment | Alcoholism
Book Chapter
Journal of Child Neurology, ISSN 0883-0738, 6/2014, Volume 29, Issue 6, pp. 860 - 864
Journal Article
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, p. 1135
  Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare,... 
Musculoskeletal diseases | Proteins | Genetic disorders | Mutation
Journal Article
Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent, ISSN 1719-8429, 04/2018, Volume 27, Issue 2, p. 83
Journal Article
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