Neudle.com: "prenatal genetic diagnosis"

Differential
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abscess, intracerebral

acetazolamide

acetylcholinesterase

acid maltase deficiency

acid maltase deficiency, adult

acoustic neurinoma

acoustic neurinoma, bilateral

adrenoleukodystrophy, adult onset

adrenoleukodystrophy, carrier

adrenomyeloneuropathy

advances in neurology

agenesis of corpus callosum

Aicardi-Goutieres syndrome

algorithm

alpha glucosidase

alpha-fetoprotein

alveolar hypoventilation

anterior horn cell disease

anticonvulsants

anticonvulsants, absorption

anticonvulsants, bioavailability

anticonvulsants, blood level determination of

anticonvulsants, compliance

anticonvulsants, subtherapeutic

anticonvulsants, teratogenicity of

anticonvulsants, untoward effects of

arteriovenous malformation

arteriovenous malformation, pulmonary

arthralgia

arylsulfatase B

ascites

aspartate aminotransferase

attention deficit disorder with hyperactivity

atypical

audiogram

auditory evoked brainstem potentials

autism

Babinski sign

baldness

basal ganglia, calcification of

bone marrow transplantation

brachial neuritis

brachial neuritis, acute

brachial neuritis, bilateral

brachial plexus neuropathy

brachial plexus neuropathy, bilateral

brachial plexus neuropathy, familial

brachial plexus neuropathy, recurrent

calcification, intracranial

cardiac surgery, hypothermia and circulatory arrest for

cardiac surgery, neurologic complications with

CAT scan, indications for

cataracts

cataracts, congenital

Central America

central nervous system, infection of

cerebellar ataxia, children

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy

cerebral cortical atrophy

cerebral embolism

cerebral infarction

cerebral palsy

cerebral palsy, risk factors

cerebral palsy, work up

cerebro hepato renal syndrome

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, protein of

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, infancy and childhood

cerebrovascular accident, intrauterine

cerebrovascular accident, multiple

cerebrovascular accident, neonatal

cerebrovascular accident, recurrent

cerebrovascular disease

ceruloplasmin, serum

cesarean section

Charcot-Marie-Tooth

chilbran skin lesions

children

chorea

choroid plexus

choroid plexus, abnormality of

choroid plexus, cyst

chromosomal abnormality

chronic graft versus host disease

cleft lip

Clinical Pathologic Conference(C.P.C.)

congenital birth defects

congenital heart disease

congenital infection, viral

congenital malformation

congenital malformation, dilantin therapy causing

congenital malformation, non CNS

congestive heart failure

consanguinity

constipation

contractures, joint

controversies in neurology

copper metabolism, abnormal

cornea, abnormal

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

corpus callosum, atrophy of

counselling

creatine phosphokinase(CPK)elevated

cry, abnormal

cry, weak

cultured skin fibroblasts

cyanosis

cyst, porencephalic

deafness

degenerative diseases of CNS

dementia

dementia, childhood

demyelinating disease

dentate nuclei, lesion of

depression

developmental abnormality of brain

developmental disability

developmental evaluation

developmental milestones

developmental retardation

diagnostic criteria

diaphragmatic paralysis

diet

differential diagnosis

digits, abnormal

dilantin

dilantin, toxicity

disability, neurological

dissociated sensory loss

distal muscle weakness

dysarthria-clumsy hand syndrome

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electroencephalogram, monitoring, continuous

electromyogram

electron microscopy

embolism, paradoxical

employment

encephalocele

encephalopathy

encephalopathy, neonatal

epidemiology of neurology

epileptic encephalopathy

extracorporeal membrane oxygenation

Fabry's disease

facial appearance, abnormal

facial expression abnormality

facial weakness

facial weakness, bilateral

failure to thrive

familial

fasciculation

fatty acid, elevated plasma content

fistula, arterio-venous

fistula, arterio-venous, dural

fistula, arterio-venous, dural, spinal

flavivirus

flow study, carotid artery

folic acid

fragile-X syndrome

fragile-X syndrome, carrier

gastrointestinal bleeding

genetic diagnosis, prenatal

genetic linkage

genetic neurologic disorders

genetic screening

genetic testing

glucocerebrosidase

glycogen storage disease

glycoprotein

granular osmiphilic material

gray matter

grimacing

growth hormone deficiency

growth retardation

Guillain Barre syndrome

hemiplegia, congenital

hemorrhage, intracranial, newborn

hemorrhage, periventricular

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatomegaly

hepatosplenomegaly

hereditary hemorrhagic telangiectasia(HHT)

human T-lymphotropic virus type I(HTLV-I)

Huntington's chorea

Huntington's chorea, genetic counselling

Huntington's chorea, presymptomatic detection of

hydrocephalus

hydrocephalus, congenital

hydrocephalus, fetal

hydrocephalus, intrauterine

hyperactivity

hypercapnia

hyperphagia

hyperpyrexia, CNS disorder causing

hypopigmentation of skin

hypothyroidism, congenital

hypoxic-ischemic leukoencephalopathy

imbalance

immunohistochemistry

in situ hybridization

inborn errors of metabolism

inborn errors of metabolism, screening

infant, evaluation of

infection

infection, recurrent

intellectual deficit

intellectual deterioration

intelligence quotient

intelligence testing in children

interferon alpha

internet

intracranial hemorrhage

intrauterine

intrauterine growth retardation

intrauterine infection

intrauterine infection, viral

intrauterine infection, viral of CNS

intraventricular hemorrhage

Kayser-Fleischer ring

klippel feil syndrome

Krabbe's disease

kyphoscoliosis, neurologic causes of

lamotrigine

learning disability

learning disability, in children

leg weakness, bilateral

lipid storage disorder of CNS

Lisch nodules

lissencephaly

liver disease

liver function enzymes

lysosomal storage disease

lysosomes, abnoral

macrocephaly

malformation, CNS, congenital

malformation, vascular, cerebral

medical-legal aspects of neurology

meningocele

mental retardation

mental retardation, familial

metabolic disorder, primary

metachromatic leukodystrophy

microcephaly

micrognathia

migraine

Miller-Dieker syndrome

misdiagnosis

mitral valve prolapse

molecular genetics

molybdenum cofactor deficiency

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, fetal

MRI, indications for

MRI, intrauterine

mucopolysaccharidoses

multiple sclerosis, misdiagnosis

muscle atrophy, focal

muscle atrophy, progressive

muscle biopsy

muscle diseases, characteristics of

muscle hypertrophy

muscle pain

muscle wasting, diffuse

muscle weakness

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, Becker

muscular dystrophy, cardiovascular changes with

muscular dystrophy, classification

muscular dystrophy, congenital

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, facioscapulohumeral

muscular dystrophy, limb-girdle

myelomeningocele

myelopathy

myelopathy, chronic progressive

myotonia dystrophica, classification

myotonia dystrophica, type 2

nasal bridge, wide

nausea and vomiting

neonatal epilepsy syndromes

neonatal epileptic encephalopathy

neoplasm, primary of CNS

nerve conduction studies

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination

neurologic practice

neurologic signs

neuronal ceroid-lipofuscinosis

neuronal migration disorder

neuropathology

neuropathy

neuropathy, hereditary peripheral

neuropathy, peripheral

neurosis

newborn, evaluation of

nystagmus, hereditary

nystagmus, periodic

obesity

obstetric neurologic injuries

oculopharyngeal muscular dystrophy

ornithine transcarbamylase deficiency

parasitic infection, CNS

paresthesias

Parkinsonism syndrome

paroxysmal neurologic deficits

partruition

pathology

patient information and support

penicillamine

percussion induced muscle contraction

periventricular leukomalacia

pleocytosis of cerebrospinal fluid

polymerase chain reaction

polyneuropathy, chronic inflammatory demyelinating

Pompe's disease of glycogen storage

post hemorrhagic hydrocephalus

postoperative neurologic complications

Prader-Labhart-Willi syndrome

pramipexole

precipitating factors

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

premature infant

premature infant, problems in

prenatal

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognosis

progressive neurologic disorder

proteinuria

proximal muscle atrophy

proximal myotonic myopathy

pruritus

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

psychosis

ptosis

puerperium

pyramidal tract dysfunction

restless leg syndrome

retinal degeneration

retinal hamartoma

reversible neurologic disorder

scoliosis, neurologic association with

screaming

screening

seizure

seizure, complications following

seizure, diagnosis of

seizure, treatment of

seizure, treatment of, monotherapy

skin, lesions in neurologic disorders

slit lamp examination

SMN1 gene

South America

Southern immunoblot test

speech disorder

speech disorder, childhood

sphingolipodoses

spina bifida

spinal cord

spinal cord, compression of

spinal cord, lesion of

spinal cord, vascular malformation of

spinal muscular atrophy

spinal muscular atrophy, classification

splenomegaly

spongy degeneration of brain

startle reaction

stem cell transplantation

strabismus

subarachnoid fluid collection, benign

subarachnoid hemorrhage

subdural hematoma

subdural hematoma, neonates and infants

subependymal nodules

suck, poor

sudden infant death syndrome

temporalis muscle wasting

temporalis muscle weakness

temporomandibular joint, dislocation

testicular enlargement

thrombocytopenia

thyroxine

tissue plasminogen activator, intravenous

titinopathy

tongue, enlarged

tongue, fasciculations of

tongue, protrusion of

tongue, weakness

toxoplasmosis, CNS

toxoplasmosis, congenital

trauma

treatment of neurologic disorder

tremor

tremulousness

trichopoliodystrophy

trientine dihydrochloride

trinucleotide repeats

tuberous sclerosis, screening for

twins

ultrasonography

ultrasonography, head

ultrasonography, head, fetus-neonate

umbilical-cord blood transplantation

undiagnosed

urea-cycle enzymopathies

uric acid, low

urine test for metabolic disorders

vertigo, episodic

very long chain fatty acids

vitamin supplementation

walking, difficulty with

weakness

weakness, congenital

weakness, progressive

weakness, proximal

weight loss

Werdnig-Hoffman disease

Western immunoblot test

x-linked hydrocephalus

x-linked mental retardation

Zika virus infection

zinc

Showing articles 0 to 50 of 2198 Next >>

Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020

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

Zika Virus Associated with Microcephaly
NEJM 374: DOI:10.1056/NEJMoa1600651, Mlakar, J.,et al, 2016

Zika Virus as a Cause of Neurologic Disorders
NEJM 374:1506-1509, Broutet, N.,et al, 2016

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

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Prevalence and Evolution of Intracranial Hemorrhage in Asymptomatic Term Infants
AJNR 29:1082-1089, Rooks,V.J.,et l, 2008

Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008

Curable Cause of Paraplegia: Spinal Dural Arteriovenous Fistulae
Stroke 39:2756-2759, Aghakhani,N.,et al, 2008

Phenylketonuria
eMedicine (December), Arnold,G.L., 2007

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007

Epilepsy in Pregnancy
BMJ 335:769-774, Tomson,T. &Hiilesmaa,V., 2007

Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006

Neonatal MRI to Predict Neurodevelopmental Outcomes in Preterm Infants
NEJM 355:685-694,727, Woodward,L.J.,et al, 2006

Restless Legs Syndrome: Is Treatable But Under-Recognised
BMJ 333:457-458, Medcalf,P. &Bhatia,K.P., 2006

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

Can We Prevent Cerebral Palsy?
NEJM 349:1765-1769, Nelson,K.B., 2003

Prenatal Diagnosis Requests for Huntington's Disease when the Father is at Risk, and Does Not Want to Know His Genetic Status: Clinical, Legal, and Ethical Viewpoints
BMJ 326:331-333, Tassicker,R.,et al, 2003

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

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

Practice Paramenter: Neuroimaging of the Neonate
Neurol 58:1726-1738, Ment,L.R.,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

Brain Structure and Neurocognitive and Behavioural Function in Adolescents Who Were Born Very Preterm
Lancet 353:1653-1657, Stewart,A.L.,et al, 1999

Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
Neurol 51:1039-1045, Seale,C.G.,et al, 1998

Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
Neurol 51:944-948, Rpt of the Quality Stnds Subcmte AAN, 1998

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

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998

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

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

Anticedents of Cerebral Palsy in a Multicenter Trial of Indomethacin for Intraventricular Hemorrhage
Arch Pediatr Adolesc Med 151:580-585, Allan,W.C.,et al, 1997

Intracranial Abnor in Infants Treated with Extracorporeal Membrane Oxygenation:Update on Sonographic & CT Findings
AJNR 17:287-294, Bulas,D.I.,et al, 1996

Subarachnoid Fluid Collections:A Cause of Macrocrania in Preterm Infants
J Pediatr 128:234-236, AlSaedi,S.A.,et al, 1996

Prenatal Diagnosis of Duchenne Muscular Dystrophy Using a Single Fetal Nucleated Erythrocyte in Maternal Blood
Neurol 46:1350-1353, Sekizawa,A.,et al, 1996

The Relation of Transient Hypothyroxinemia in Preterm Infants to Neurologic Development at Two Years of Age
NEJM 334:821-827, 8571996., Reuss,M.L.,et al, 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

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

Cranial Ultrasound Predict of Disabling & Nondisabling Cerebral Palsy at Age Two in Low Birth Wt Population
Pediatrics 95:249-254, Pinto-Martin,J.A.,et al, 1995

Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995

Clinical Significance of Fetal Choroid Plexus Cysts
Lancet 346:724-729, Gupta,J.K.,et al, 1995

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

Asking the Courts to Set the Standard of Emergency Care-The Case of Baby K
NEJM 330:1542-1545, Annas,G.J., 1994

Showing articles 0 to 50 of 2198 Next >>