Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,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
Epilepsy and Pregnancy
BMJ 307:492-495, O'Brien,M.D.&Gilmour-White,S., 1993
Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
NEJM 329:915-920, Sancho,S.,et al, 1993
Outlook for the Child with a Cephalocele
Pediatrics 90:914-919, Brown,M.S.,et al, 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Value of Cranial Untrasound and MRI in Predicting Neurodevelopmental Outcome in Preterm Infants
Pediatrics 90:196-199, vandeBor,M.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Effect of Cocaine Use On the Fetus
NEJM 327:399-407, Volpe,J.J., 1992
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992
Clinical and NEuroradiol Findings of Congen Hydroceph in Infant Born to Mother with HTLV-I-Assoc Myelopathy
Neurol 42:1406-1408, Tohyama,J.,et al, 1992
Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992
Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992
Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
Neurol 41:992-999, Farrer,L.A.,et al, 1991
Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
NEJM 324:662-666, 6901991., Luthy,D.S.,et al, 1991
Sensitivity of Ultrasound in Detecting Spina Bifida
Letter, NEJM 324:769-7721991., , 1991
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991
Destructive Brain Lesions of Presumed Fetal Onset:Antepartum Causes of Cerebral Palsy
Pediatrics 88:898-906, 10591991., Scher,M.S.,et al, 1991
Prenatal Origin of Hemiparetic Cerebral Palsy:How Often and Why?
Pediatrics 88:1059-1062, Nelson,K.B., 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990
Periventricular-Intraventricular Hemorrhage Sonographic Localization in Low Birth Weight Infants
Pediatrics 85:1027-1032, Krishamoorthy,K.,et al, 1990
Prenatal Prediction of Risk of the Fetal Hydantoin Syndrome
NEJM 322:1567-1572, Buehler,B.A.,et al, 1990
Predictive Testing for Huntington's Disease with Linked DNA Markers
Lancet 2:463-466, Brock,D.J.H.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989
Neurological and Developmental Findings in Children with Cataracts
Am J Dis Child 13:706-710, Pike,M.G.,et al, 1989
Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989
Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
NEJM 318:535-542, Meissen,G.J.,et al, 1988
Prenatal Testing for Duchenne & Becker Muscular Dystrophy
Lancet 1:262-266, Cole,C.G.,et al, 1988
Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Effective Strategy for Prenatal Prediction of Duchenne & Becker Muscular Dystrophy
Lancet 2:1294-1296, Forrest,S.M.,et al, 1987
Prediction of Cerebral Palsy in Very Low Birthweight Infants:Prospective Ultrasound Study
Lancet 2:593-596, Graham,M.,et al, 1987
First-Trimester Prenatal Diagnosis for Huntington's Disease with DNA Probes
et al Lancet 1:1284-1285, Hayden,M.R., 1987
Prenatal Diagnosis & Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
NEJM 316:985-993, 1018-10201987., Darras,B.T.,et al, 1987
Preventive Screening for Fragile X Syndrome
Editorial, Lancet 2:1191-11921986., , 1986
Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986
Prenatal Diagnosis of Congenital Toxoplasmosis
Lancet 1:500-504, Desmonts,G.,et al, 1985