Neudle.com: genetic diagnosis prenatal

Differential
(Click to cross reference)

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, CNS

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 milestones, loss of

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

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

hypsarrhythmia

imbalance

immunohistochemistry

in situ hybridization

inborn errors of metabolism

inborn errors of metabolism, screening

infant, evaluation of

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, crying as manifestation of

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

transplacental virus infections

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 100 to 150 of 2244 << Previous Next >>

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

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

Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985

Prenatal Diagnosis & Carrier Detection of Duchenne Muscular Dystrophy with Closely Linked RFLPs
Lancet 1:655-658, Bakker,E.,et al, 1985

Predictive Value of Cranial Ultrasound in the Newborn Baby:A Reappraisal
Lancet 2:137-140, DeVries,L.S.,et al, 1985

Adrenoleukodystrophy:Survey of 303 Cases:Biochemistry, Diagnosis, & Therapy
Ann Neurol 16:628-641, Moser,H.W.,et al, 1984

The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984

Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

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

Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981

Perinatal Neuropathy as an Early Manifestation of Krabbe's Disease
Arch Neurol 37:446-447, Lieberman,J.S.,et al, 1980

CT Scans in Menkes Disease
Neurol 29:304-312, Seay,A.R.,et al, 1979

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Hereditary Paroxysmal Ataxia:Response to Acetazolamide
Neurol 28:1259-1264, Griggs,R.C.,et al, 1978

Prenatal Diagnosis of Duchenne's Muscular Dystrophy
NEJM 297:968, Mahoney,M.J.,et al, 1977

Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973

Preclinical Detection of Dystrophia Myotonica
BMJ 124, 1972 April., , 1972

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026

Restless Legs Syndrome, A Review
JAMA 335:703-714, Winkelmen,J.W. & Wipper, B., 2026

Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026

Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
Ann Neurol 99:881-882, Liu,S-X.,et al, 2026

A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
Neurol 106:e214830, Gosset,A.,et al, 2026

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025

MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions, A Case Report and Literature Review
Neurologist 30:75-79, Liu,Q.,et al, 2025

A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025

Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025

Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025

A 58-Year-Old Man With Resting tremor, Bradykinesia, and Distal Numbness
Neurol 105:e214183, Costa,R., et al, 2025

A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025

A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025

A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
Neurol 105:e214299, Gutierrez-Abizuri,C.,et al, 2025

Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025

A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
Neurol 105:e214429, Trentadue,T.,et al, 2025

Ribbon-Like Cortical Calcifications in Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
Neurol 106:e214464, Chen,Y.,et al, 2025

A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025

A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025

A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025

Severe Myotonic Crisis Resembling Malignant Hyperthermia
Neurol 104:e213497, Wadhwani,A.R.,et al, 2025

A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025

A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025

Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025

A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025

Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025

A 59-Year-Old Man with Progressive Dysarthria and Gait Instability
Neurol 104:e213729, Shen,D.,et al, 2025

Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025

Showing articles 100 to 150 of 2244 << Previous Next >>