Neurology Specific Literature Search   
 
[home][thesaurus]
    

Enter your terms
above and click
the 'Search' button.
Showing articles 0 to 31 of 31

Filter Applied: genetic diagnosis,prenatal (Click to remove)

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993

Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

Preventive Screening for Fragile X Syndrome
Editorial, Lancet 2:1191-11921986., , 1986

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002

New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993

GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992

Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992

Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 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

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991

Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990

Prenatal Testing for Duchenne & Becker Muscular Dystrophy
Lancet 1:262-266, Cole,C.G.,et al, 1988

The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988

Effective Strategy for Prenatal Prediction of Duchenne & Becker Muscular Dystrophy
Lancet 2:1294-1296, Forrest,S.M.,et al, 1987

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 Cockayne's Syndrome
Lancet 1:486-488, Lehmann,A.R.,et al, 1985

Prenatal Diagnosis of Fragile X Chromosome
Lancet 1:99-100, Shapiro,L.R.,et al, 1982



Showing articles 0 to 31 of 31