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1. Full Text Fetal Alcohol Spectrum Disorder—High Rates, High Needs, High Time for Action
by Chudley, Albert E
JAMA Pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 10, pp. 940 - 941
DIAGNOSIS | RISK | PEDIATRICS | ADOLESCENTS
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2. Full Text Diagnosis of fetal alcohol spectrum disorder: current practices and future considerations1
by Chudley, Albert E
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
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3. Full Text A global research collaboration on fetal alcohol spectrum disorder
by Medwick, Heather and Chudley, Albert E and Canada-Israel Int Fetal Alcohol Co and team members of the Canada–Israel International Fetal Alcohol Consortium
Biochemistry and Cell Biology, ISSN 0829-8211, 2018, Volume 96, Issue 2, pp. vii - viii
BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | Biomedical Research | Animals | Fetal Alcohol Spectrum Disorders | Humans | Periodicals as Topic | Fetal alcohol syndrome | Medical research | Effect of alcohol on | Medicine, Experimental | Fetus | Birth defects | Research | Alcohols
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4. Full Text Guidelines on the selection of patients with lung cancer for surgery
by Adam, Margaret P and Banka, Siddharth and Bjornsson, Hans T and Bodamer, Olaf and Chudley, Albert E and Harris, Jaqueline and Kawame, Hiroshi and Lanpher, Brendan C and Lindsley, Andrew W and Merla, Giuseppe and Miyake, Noriko and Okamoto, Nobuhiko and Stumpel, Constanze T and Niikawa, Norio
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... 
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5. Full Text A global research collaboration on fetal alcohol spectrum disorder1
by Chudley, Albert E and Medwick, Heather and team members of the Canada–Israel International Fetal Alcohol Consortium
Biochemistry and Cell Biology, ISSN 0829-8211, 2018, Volume 96, Issue 2, pp. vii - viii
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6. Full Text The hemoglobinopathies and malaria
: Section Editor: Albert E. Chudley, email: achudley@hsc.mb.ca
by Richer, J and Chudley, AE
Clinical Genetics, ISSN 0009-9163, 10/2005, Volume 68, Issue 4, pp. 332 - 336
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7. Full Text Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality
by Kamath, Binita M and Spinner, Nancy B and Emerick, Karan M and Chudley, Albert E and Booth, Carol and Piccoli, David A and Krantz, Ian D
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
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8. Full Text Diagnosis of fetal alcohol spectrum disorder: Current practices and future considerations
by Chudley, Albert E
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... 
Epigenetics | Genetics | Multidisciplinary team | Imaging | Guidelines | IN-UTERO | multidisciplinary team | BIOCHEMISTRY & MOLECULAR BIOLOGY | BRAIN-DEVELOPMENT | imaging | epigenetics | OCULOMOTOR CONTROL | PROSPECTIVE COHORT | CHILDREN | CELL BIOLOGY | BIRTH MOTHERS | genetics | CANADIAN GUIDELINES | guidelines | PRIMARY PREVENTION | EXPOSURE | SYNDROME FAS | Fetal alcohol syndrome | Epigenetic inheritance | Effect of alcohol on | Genetic research | Fetus | Diagnosis | Research | Social behavior | Electrophysiology | Diagnostic systems | Alcohols
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9. Full Text FETAL ALCOHOL SPECTRUM DISORDER: COST OF SCREENING AND DIAGNOSIS IN CANADA
by Lange, Shannon and Burd, Larry and Chudley, Albert E and Clarren, Sterling K and Rehm, Jürgen and Popova, Svetlana
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).... 
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10. Full Text Copy number variation in fetal alcohol spectrum disorder1
by Reynolds, James N and Lamoureux, Sylvia and Hicks, Geoffrey G and Zarrei, Mehdi and Scherer, Stephen W and Wang, Zhouzhi and Chudley, Albert E and Engchuan, Worrawat and Wintle, Richard F and Thiruvahindrapuram, Bhooma and Marshall, Christian R and Pind, Molly and Wei, John
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
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11. Full Text Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis
by Popova, Svetlana, Dr and Lange, Shannon, MPH and Shield, Kevin, PhD and Mihic, Alanna, MSc and Chudley, Albert E, Prof and Mukherjee, Raja A S, PhD and Bekmuradov, Dennis, BASc and Rehm, Jürgen, Prof
Lancet, The, ISSN 0140-6736, 2016, Volume 387, Issue 10022, pp. 978 - 987
Summary Background Fetal alcohol spectrum disorder (FASD) is related to many comorbidities because of the permanent effects of prenatal alcohol exposure on the... 
Internal Medicine | UNITED-STATES | MEDICINE, GENERAL & INTERNAL | CANADIAN GUIDELINES | NATIONAL EPIDEMIOLOGIC SURVEY | DISABILITY | PRENATAL ALCOHOL | HIGH PREVALENCE | EXPOSURE | CHILDREN | MANIFESTATIONS | IMPAIRMENT | Fetal Alcohol Spectrum Disorders - epidemiology | Prevalence | Comorbidity | Humans | Fetal alcohol syndrome | Pregnant women | Analysis | Medical genetics | Effect of alcohol on | Fetus | Medical research | Medicine, Experimental | Drinking of alcoholic beverages | Congenital diseases | Fetuses | Alcohol use
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12. Full Text Genetic landmarks through philately - autism spectrum disorders: a genetic update
: Section Editor: Albert E. Chudley, e-mail: achudley@hsc.mb.ca
by Chudley, AE
Clinical Genetics, ISSN 0009-9163, 05/2004, Volume 65, Issue 5, pp. 352 - 357
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13. Full Text Fetal Alcohol Spectrum Disorder
by Kilgour, Andrea R
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
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14. Full Text Response to correspondence on "lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts"
by Salman, Michael S and Abumansour, Iman S and Chudley, Albert E and Chodirker, Bernard N and Wrogemann, Jens
Journal of Child Neurology, ISSN 0883-0738, 04/2015, Volume 30, Issue 5, pp. 666 - 666
PEDIATRICS | CLINICAL NEUROLOGY | Cataract - complications | Brain Stem - pathology | Humans | Nervous System Malformations - complications | Female | Cerebellum - abnormalities | Lissencephaly - complications
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15. Full Text Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts
by Abumansour, Iman S and Wrogemann, Jens and Chudley, Albert E and Chodirker, Bernard N and Salman, Michael S
Journal of Child Neurology, ISSN 0883-0738, 6/2014, Volume 29, Issue 6, pp. 860 - 864
Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by... 
lissencephaly | cerebellar hypoplasia | RELN | neuronal migration disorder | PEDIATRICS | MUTATIONS | cataracts | CLINICAL NEUROLOGY | pachygyria | Cataract - complications | Magnetic Resonance Imaging | Brain Stem - pathology | Humans | Nervous System Malformations - complications | Female | Cerebellum - abnormalities | Developmental Disabilities - complications | Infant, Newborn | Lissencephaly - complications
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16. Full Text Fetal alcohol spectrum disorder: A guideline for diagnosis across the lifespan
by Cook, Jocelynn L and Green, Courtney R and Lilley, Christine M and Anderson, Sally M and Baldwin, Mary Ellen and Chudley, Albert E and Conry, Julianne L and LeBlanc, Nicole and Loock, Christine A and Lutke, Jan and Mallon, Bernadene F and McFarlane, Audrey A and Temple, Valerie K and Rosales, Ted and Canada Fetal Alcohol Spectrum Diso and Canada Fetal Alcohol Spectrum Disorder Research Network
CMAJ, ISSN 0820-3946, 02/2016, Volume 188, Issue 3, pp. 191 - 197
The consequences of prenatal alcohol exposure were first described more than 40 years ago.1,2 The term "fetal alcohol syndrome" (FAS) was first used to... 
INDIVIDUALS | MEDICINE, GENERAL & INTERNAL | RECOMMENDATIONS | CARE | Fetal Alcohol Spectrum Disorders - diagnosis | Humans | Focus Groups | Child, Preschool | Patient Care Team | Infant | Male | Alcohol Drinking | Advisory Committees | Pregnancy | Canada | Algorithms | Mass Screening | Female | Referral and Consultation | Child | Infant, Newborn | Practice Guidelines as Topic | Fetal alcohol syndrome | Evaluation | Medical research | Practice guidelines (Medicine) | Effect of alcohol on | Medicine, Experimental | Fetus | Forecasts and trends | Diagnosis | Medical statistics | Medical diagnosis | Alcoholism | Guidelines
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17. Full Text Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis
by Chudley, Albert E and Conry, Julianne and Cook, Jocelynn L and Loock, Christine and Rosales, Ted and LeBlanc, Nicole and Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder
Canadian Medical Association Journal, ISSN 0008-4409, 03/2005, Volume 172, Issue 5_suppl, pp. S1 - S21
THE DIAGNOSIS OF FETAL ALCOHOL SPECTRUM DISORDER (FASD) is complex and guidelines are warranted. A subcommittee of the Public Health Agency of Canada's... 
PHOTOGRAPHIC SCREENING TOOL | BIRTH MOTHERS | MEDICINE, GENERAL & INTERNAL | ACID ETHYL-ESTERS | PRENATAL ALCOHOL | FACIAL PHENOTYPE | PREVALENCE | PRIMARY PREVENTION | EXPOSURE | SYNDROME FAS | PREGNANCY | Prenatal Exposure Delayed Effects | Fetal Alcohol Spectrum Disorders - diagnosis | Humans | Alcoholism - prevention & control | Alcoholism - diagnosis | Nervous System Diseases - diagnosis | Referral and Consultation - standards | Fetal Alcohol Spectrum Disorders - epidemiology | Canada - epidemiology | Fetal Alcohol Spectrum Disorders - prevention & control | Adult | Female | Child | Infant, Newborn | Alcohol Drinking - prevention & control | Physical Examination - standards | Diagnosis, Differential | Ethanol | Risk Factors | Mass Screening - standards | Pregnancy Complications - diagnosis | Medical History Taking - standards | Pregnancy | Abnormalities, Multiple - diagnosis | Pregnancy Complications - prevention & control | Supplement
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18. Full Text An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
by Wheway, G and Schmidts, M and Mans, D.A and Szymanska, K and Nguyen, T.M and Racher, H and Phelps, I.G and Toedt, G and Kennedy, J and Wunderlich, K.A and Sorusch, N and Abdelhamed, Z.A and Natarajan, S and Herridge, W and Reeuwijk, J. van and Horn, N and Boldt, K and Parry, D.A and Letteboer, S.J.F and Roosing, S and Adams, M and Bell, S.M and Bond, J and Higgins, J and Morrison, E.E and Tomlinson, D.C and Slaats, G.G and Dam, T.J.P. van and Huang, L and Kessler, K and Giessl, A and Logan, C.V and Boyle, E.A and Shendure, J and Anazi, S and Aldahmesh, M and Hazzaa, S. Al and Hegele, R.A and Ober, C and Frosk, P and Mhanni, A.A and Chodirker, B.N and Chudley, A.E and Lamont, R and Bernier, F.P and Beaulieu, C.L and Gordon, P and Pon, R.T and Donahue, C and Barkovich, A.J and Wolf, L and Toomes, C and Thiel, C.T and Boycott, K.M and McKibbin, M and Inglehearn, C.F and Stewart, F and Omran, H and Huynen, M.A and Sergouniotis, P.I and Alkuraya, F.S and Parboosingh, J.S and Innes, A.M and Willoughby, C.E and Giles, R.H and Webster, A.R and Ueffing, M and Blacque, O and Gleeson, J.G and Wolfrum, U and Beales, P.L and Gibson, T and Doherty, D and Mitchison, H.M and Roepman, R and Johnson, C.A and Univ Washington Ctr Mendelian Geno and UK10K Consortium and University of Washington Center for Mendelian Genomics
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
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19. SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
by David A Parry and Clare V Logan and Alexander PA Stegmann and Zakia A Abdelhamed and Alistair Calder and Shabana Khan and David T Bonthron and Virginia Clowes and Eamonn Sheridan and Neeti Ghali and Albert E Chudley and Angus Dobbie and Constance TRM Stumpel and Colin A Johnson
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
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20. Full Text Response to "A critique for the new Canadian FASD diagnostic Guidelines"
by Cook, Jocelynn L and Green, Courtney R and Lilley, Christine and Psych, R and Anderson, Sally and Baldwin, Mary Ellen and Chudley, Albert E and Conry, Julianne and LeBlanc, Nicole and Loock, Christine A and Mallon, Bernadene and McFarlane, Audrey and Temple, Valerie and Psych, C
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
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