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Filter Applied: malformation,CNS,congenital (Click to remove)

Joubert Syndrome:A Clinico-Radiological Study
Neuroradiology 31:502-506, Kendall,B.,et al, 1990

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Congenital and Acquired Chiari Syndrome
NEJM 390:2191-2198, Friedlander,R.M., 2024

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024

Spina Bifida
NEJM 387:444-450, Iskandar, B.J. & Finnell, R.H., 2022

CLOVES Syndrome
Neurol 96:e1487-e1488, Collins, M.,et al, 2021

Bilateral Alopecia as Clue to Diagnosis of Gomez-Lopez-Hernandez Syndrome in a 38-Year-Old Man
Neurol 93:408-410, Kronlage,C.&Healy,D.G., 2019

Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
Lancet: 389:538-546,483, Griffiths, P.D.,et al, 2017

Maternal Use of antiepileptic Agents During Pregnancy and Major Congenital Malformations in Children
JAMA 318:1700-1701, Bromley, R.L.,et al, 2017

Diagnostic Value of Prenatal MR Imaging in the Detection of Brain Malformations in Fetuses before the 26th Week of Gestational Age
AJNR 37:946-951, Conte, G.,et al, 2016

Zika Virus as an Emerging Global Pathogen
JAMA Neurol 73:875-879, Beckham, J.D.,et al, 2016

Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
, Griffiths, P.D.,et al, 2016

Somatic Mutations in Cerebral Cortical Malformations
NEJM 371:733-743, Jamuar, S.S.,et al, 2014

Newer-Generation Antiepileptic Drugs and the Risk of Major Birth Defects
JAMA 305:1996-2002, Molgaard, D. & Hviid, A., 2011

Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations
NEJM 362:2185-2193, Jentink,J., et al, 2010

Intrauterine Exposure to Carbamazepine and Specific Congenital Malformations: Systematic Review and Case-Control Study
BMJ 341:c6581, 1229, Jentik,J.,et al, 2010

Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009

Arenaviruses: A Neurological Problem at Any Age
Ann Neurol 62:309-311, Gilden,D.H., 2007

Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007

Major Congential Malformations After First-Trimester Exposure to ACE Inhibitors
NEJM 354:2443-2451,2498, Cooper,W.O.,et al, 2006

Magnetic Resonance Imaging of the Fetal Brain and Spine: An Increasingly Important Tool in Prenatal Diagnosis: Part 2
AJNR 27:1807-1814, Glenn,O.A. &Barkovich,J., 2006

Lamotrigine and the Risk of Malformations in Pregnancy
Neurol 64:955-960, 938, Cunnington, M. , et al, 2005

Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005

Major Malformations in Offspring of Women with Epilepsy
Neurol 60:575-579, Kaaja,E.,et al, 2003

Impact of Folic Acid Fortification of the US Food Supply on the Occurrence of Neural Tube Defects
JAMA 285:2981-2986,3022, Honein,M.A.,et al, 2001

Pyridostigmine-Induced Microcephaly
Neurol 54:1873-1874, Niesen,C.E.&Shah,N.S., 2000

Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders
Pediatrics 106:358-361, Jacobs,E.A. et al, 2000

Population Based, Prospective Study of the Care of Women with Epilepsy in Pregnancy
BMJ 321:674-675, Fairgrieve,S.D. et al, 2000

Folic Acid Antagonists During Pregnancy and the Risk of Birth Defects
NEJM 343:1608-1614, Hernandez-Dias,S.,et al, 2000

Gray Matter Heterotopia
Neurol 55:1603-1608, Barkovich,A.J. & Kuzniecky,R.I., 2000

Folic Acid for the Prevention of Neural Tube Defects
Pediartrics 104:325-327, Committee on Genetics, 1999

Neural-Tube Defects
NEJM 341:1509-1519,1485, Botto,L.D.,et al, 1999

Diabetes Mellitus and the Nervous System
JNNP 65:620-632, Watkins,P.J.&Thomas,P.K., 1998

MR of Zellweger Syndrome
AJNR 18:1163-1170, Barkowich,A.J.&Peck,W.W., 1997

X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996

Folic Acid and the Prevention of NEural Tube Defects
BMJ 310:1019-1020, Wald,N.J.&Bower,C., 1995

Folate Levels and Neural Tube Defects:Implications for Prevention
JAMA 274:1698-1702, 17171995., Daly,L.E.,et al, 1995

Evidence of a Congenital Midline Brain Anomaly in Pituitary Dwarfs:A Magnetic Resonance Imaging Study in 101 Patients
Pediatrics 93:409-416, Triulzi,F.,et al, 1994

Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993

Association of Facial Hemangiomas with Dandy-Walker and Other Posterior Fossa Malformations
J Pediatr 122:379-384, Reese,V.,et al, 1993

Neuroradiological Manifestations of Focal Polymorphic Delta Activity in Children
Arch Neurol 50:181-184, Maytal,J.,et al, 1993

Klippel-Feil Syndrome:CT and MR of Acquired & Congen Abnormal of Cervical Spine & Cord
J Comput Assist Tomogr 17:215-244, Ulmer,J.L.,et al, 1993

Prevention of Congenital Abnormalities by Periconceptional Multivitamin Supplementation
BMJ 306:1645-1648, Czeizel,A.E., 1993

Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993

Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993

Periodic Alternating Gaze Deviation in Infancy
Neurol 42:1740-1743, Legge,R.H.,et al, 1992

The Changing Epidemiology of Neural Tube Defects, United STates, 1968-1989
Am J Dis Child 146:857-861, Yen,I.H.,et al, 1992

Matrnal Heat Exposure and Neural Tube Defects
JAMA 268:882-885, Milunsky,A.,et al, 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992



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