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wat is 'X-linked hydrocephalus - zeldzame aandoening veroorzaken toegenomen volume van de vloeistof in de hersenen '?
Definitie voor X-linked hydrocephalus
http://www.emedicine.com/neuro/topic161.htm
heb ik 'X-linked hydrocephalus'?
Bovendien moeten de volgende diagnostische tests kunnen worden moeten helpen controleren of de diagnose:
diagnostische test zoekresultaten voor 'X-linked hydrocephalus'
1 - 5 of
21
diagnostische tests
Brain MRI
X-linked hydrocephalus en Brain MRI
CT hersenen
X-linked hydrocephalus en CT hersenen
Chromosomale analyse
X-linked hydrocephalus en Chromosomale analyse
Moleculaire genetische studies
X-linked hydrocephalus en Moleculaire genetische studies
Cerebrospinal Fluid analysis
X-linked hydrocephalus en Cerebrospinal Fluid analysis
EEG - elektro
X-linked hydrocephalus en EEG - elektro
Lumbale punctie
X-linked hydrocephalus en Lumbale punctie
X-ray schedel
X-linked hydrocephalus en X-ray schedel
visie tests
X-linked hydrocephalus en visie tests
echografie hersenen
X-linked hydrocephalus en echografie hersenen
Bun
X-linked hydrocephalus en Bun
Complete metabole paneel
X-linked hydrocephalus en Complete metabole paneel
Radioisotoop cisternography
X-linked hydrocephalus en Radioisotoop cisternography
Serum Creatinine
X-linked hydrocephalus en Serum Creatinine
Ventriculaire kraan
X-linked hydrocephalus en Ventriculaire kraan
CT-scan
X-linked hydrocephalus en CT-scan
Cerebrospinal Fluid opening pressure
X-linked hydrocephalus en Cerebrospinal Fluid opening pressure
Developmental testing
X-linked hydrocephalus en Developmental testing
Endoscopische fenestration van de vloer van de derde ventrikel
X-linked hydrocephalus en Endoscopische fenestration van de vloer van de derde ventrikel
X-rays
X-linked hydrocephalus en X-rays
serum elektrolyten
X-linked hydrocephalus en serum elektrolyten
voor meer kunt u inloggen, aanmelden is gratis (klik om in te loggen)
therapeutische procedures voor 'X-linked hydrocephalus'?
Beheren of de behandeling van een ziekte moet altijd worden bepaald door een patiënten zorgverstrekker. Hieronder is een lijst van de bijbehorende procedures of therapeutische medicijnen voor X-linked hydrocephalus:
therapeutische procedure zoekresultaten voor 'X-linked hydrocephalus'
1 - 5 of
12
therapeutische procedures
rankings are computer generated. raadpleeg uw zorgverstrekker.
Doorlopend CB voor de monitoring
X-linked hydrocephalus en Doorlopend CB voor de monitoring
Open ventriculaire drainage
X-linked hydrocephalus en Open ventriculaire drainage
Ventriculoperitoneal shunt
X-linked hydrocephalus en Ventriculoperitoneal shunt
choroid plexus coagulatie
X-linked hydrocephalus en choroid plexus coagulatie
Lumboperitoneal shunt
X-linked hydrocephalus en Lumboperitoneal shunt
ventriculoatrial VA shunt
X-linked hydrocephalus en ventriculoatrial VA shunt
Choroid plexectomy
X-linked hydrocephalus en Choroid plexectomy
Opening van stenosed aquaduct
X-linked hydrocephalus en Opening van stenosed aquaduct
Torkildsen shunt
X-linked hydrocephalus en Torkildsen shunt
Cerebrospinal Fluid Shunt
X-linked hydrocephalus en Cerebrospinal Fluid Shunt
ventriculaire shunt
X-linked hydrocephalus en ventriculaire shunt
ventriculostomy
X-linked hydrocephalus en ventriculostomy
voor meer kunt u inloggen, aanmelden is gratis (klik om in te loggen)
medicatie zoekresultaten voor 'X-linked hydrocephalus'
1 - 2 of
2
medicatie
rankings are computer generated. raadpleeg uw zorgverstrekker.
Acetazolamide
X-linked hydrocephalus en Acetazolamide
Furosemide
X-linked hydrocephalus en Furosemide
zoekresultaten voor 'X-linked hydrocephalus'?
Web (allen)
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Onderzoek
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Diet
Resultaten
1 - 50
- X-linked hydrocephalus
L1 syndrome - Genetics Home Reference
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... is inherited in an X-linked recessive pattern. ... Genetic Alliance: Hydrocephalus ... X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) ...
http://ghr.nlm.nih.gov/condition=l1syndrome
ghr.nlm.nih.gov
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Hydrocephalus
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Hydrocephalus MIM 307000 (X-linked hydrocephalus) Clinical features The X-linked ... Inheritance Sporadic, X-linked, autosomal dominant (rare) ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?&rid=gfs.section.593
www.ncbi.nlm.nih.gov
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L1 Syndrome -- GeneReviews -- NCBI Bookshelf
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Includes: X-linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS, ... X-linked hydrocephalus with stenosis of aqueduct of Sylvius (HSAS) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=l1cam
www.ncbi.nlm.nih.gov
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L1 syndrome - References - Genetics Home Reference
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... in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. ... criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg. ...
http://ghr.nlm.nih.gov/condition=l1syndrome/show/References
ghr.nlm.nih.gov
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L1 Syndrome
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Includes: X-linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS, Aqueductal ... an association between X-linked hydrocephalus and a specific ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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VACTERL with Hydrocephalus
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... that the main title of the report VACTERL with Hydrocephalus is not the name you expected. Please check the ... recessive or X-linked recessive trait. ...
http://www.webmd.com/brain/vacterl-with-hydrocephalus
www.webmd.com
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summary
Mental health and behavior - Genetics Home Reference
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Adrenoleukodystrophy see X-linked adrenoleukodystrophy ... X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) see L1 syndrome ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/mentalhealthandbehavior
ghr.nlm.nih.gov
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L1 syndrome - OMIM - Genetic disorder catalog - Genetics Home Reference
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OMIM: corpus callosum, partial agenesis of, X-linked. OMIM: hydrocephalus due to congenital stenosis of aqueduct of Sylvius. OMIM: MASA syndrome ...
http://www.ghr.nlm.nih.gov/condition=l1syndrome/show/OMIM
www.ghr.nlm.nih.gov
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PMID 7881431
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X-linked hydrocephalus and MASA syndrome present in one family are due to a ... genetics Humans Hydrocephalus genetics Male Mental Retardation genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/7881431
www.ncbi.nlm.nih.gov
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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked ...
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X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related ... We have previously shown that X-linked hydrocephalus is caused by mutations in ...
http://www.ncbi.nlm.nih.gov/pubmed/7920659
www.ncbi.nlm.nih.gov
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L1CAM - References - Genetics Home Reference
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... in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. ... and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the ...
http://ghr.nlm.nih.gov/gene=l1cam/show/References
ghr.nlm.nih.gov
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PMID 9300653
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... includes X-linked hydrocephalus, MASA syndrome, X-linked complicated spastic ... Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the ...
http://www.ncbi.nlm.nih.gov/pubmed/9300653
www.ncbi.nlm.nih.gov
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Cephalic Disorders Fact Sheet: National Institute of Neurological ...
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After several months of life, seizures and hydrocephalus may develop. ... two distinct genetic causes of lissencephaly - X-linked and chromosome 17-linked. ...
http://www.ninds.nih.gov/disorders/cephalic_disorders/detail...
www.ninds.nih.gov
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PMID 11438988
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... clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in ... is a group of overlapping clinical phenotypes including X-linked hydrocephalus, ...
http://www.ncbi.nlm.nih.gov/pubmed/11438988
www.ncbi.nlm.nih.gov
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Search Results - Genetics Home Reference
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Found in name or synonym: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius... a buildup of fluid in the brain (hydrocephalus), and seizures. ...
http://ghr.nlm.nih.gov/search?query="Hydrocephalus"
ghr.nlm.nih.gov
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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family ...
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... of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. ... A locus for X-linked hydrocephalus (HSAS), which is characterized by mental ...
http://www.ncbi.nlm.nih.gov/pubmed/1303258
www.ncbi.nlm.nih.gov
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Mental Retardation (MR): Learning and Developmental Disorders: Merck ...
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X-linked recessive disorders: Lesch-Nyhan syndrome (hyperuricemia) ... or tuberous sclerosis), treatable hydrocephalus, or more severe brain ...
http://www.merck.com/mmpe/print/sec19/ch299/ch299e.html
www.merck.com
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ZIC4 - NextBio
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... been associated with X-linked visceral heterotaxy and ... Hydrocephalus ... study Mouse Phenotypes - Hydrocephalus. mus musculus. OMIM ...
http://www.nextbio.com/b/home/home.nb?q=ZIC4
www.nextbio.com
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summary
HUNTER SYNDROME - Pedbase.org
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familial - x-linked recessive. chrom.#: Xq27.3-q28. gene: iduronate 2-sulfatase (IDS) ... to severe communicating hydrocephalus with elevated intracranial ...
http://www.pedbase.org/h/hunter-syndrome
www.pedbase.org
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PMID 7762552
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... cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. ... are responsible for three related disorders; X-linked hydrocephalus, ...
http://www.ncbi.nlm.nih.gov/pubmed/7762552
www.ncbi.nlm.nih.gov
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Disorders Index: National Institute of Neurological Disorders and ...
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Normal Pressure Hydrocephalus. Select a letter to jump to the disorder or return to top of page ... X-Linked Spinal and Bulbar Muscular Atrophy ...
http://www.ninds.nih.gov/disorders
www.ninds.nih.gov
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The neural cell adhesion molecule L1: genomic organisation and ...
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... in the L1 gene are associated with four related neurological disorders, X-linked hydrocephalus, spastic paraplegia (SPG1), MASA syndrome, and X-linked corpus ...
http://www.ncbi.nlm.nih.gov/pubmed/9479034
www.ncbi.nlm.nih.gov
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Hereditary Spastic Paraplegia Overview -- GeneReviews -- NCBI Bookshelf
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... of L1 syndrome includes X-linked hydrocephalus with stenosis of the aqueduct ... X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hsp
www.ncbi.nlm.nih.gov
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L1 (protein) - Wikipedia, the free encyclopedia
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... of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus" ... X-linked hydrocephalus and MASA syndrome present in one family are due to a ...
http://en.wikipedia.org/wiki/L1_(protein)
en.wikipedia.org
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Birth Defects Glossary of Terms with Definitions on MedicineNet.com
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Rett syndrome: An X-linked dominant neurological disorder that affects girls ... Hydrocephalus. Pregnancy. Pregnancy Planning. Prenatal Ultrasound. Scoliosis ...
http://www.medicinenet.com/birth_defects/glossary.htm
www.medicinenet.com
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MedlinePlus: Head and Brain Malformations
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Hydrocephalus. Neural Tube Defects. Brain and Nerves. Genetics ... Genetics Home Reference: X-linked lissencephaly(National Library of Medicine) Return to top ...
http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html
www.nlm.nih.gov
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Mucopolysaccharidosis type II - Genetics Home Reference
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This condition is inherited in an X-linked recessive pattern. ... hydrocephalus ; hypertrophy ; infection ; inguinal ; inheritance ; joint ; ...
http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypeii?wf=1
ghr.nlm.nih.gov
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CRASH syndrome: clinical spectrum of corpus callosum hypoplasia ...
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... X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS) ... Hydrocephalus/genetics. Leukocyte L1 Antigen Complex. Linkage (Genetics) ...
http://www.ncbi.nlm.nih.gov/pubmed/8556302
www.ncbi.nlm.nih.gov
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-- GeneReviews -- NCBI Bookshelf
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Alpha-Thalassemia X-Linked Mental Retardation Syndrome ATRX Syndrome; Alpha ... Includes: X-linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (HSAS, ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=gene.TOC
www.ncbi.nlm.nih.gov
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Otopalatodigital syndrome type 2 - Genetics Home Reference
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This condition is inherited in an X-linked dominant pattern. ... hydrocephalus ; hypospadias ; incidence ; inheritance ; kidney ; malformation ; ...
http://ghr.nlm.nih.gov/condition=otopalatodigitalsyndrometype2
ghr.nlm.nih.gov
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PLP1-Related Disorders -- GeneReviews -- NCBI Bookshelf
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... shuffling gait, and adducted thumbs) to X-linked hydrocephalus [Jouet et al 1994] ... X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pmd
www.ncbi.nlm.nih.gov
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Hydrocephalus: Myths, New Facts, Clear Directions: National Institute ...
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Hydrocephalus may be ... Normal pressure hydrocephalus, in which the pressure of CSF is ... (MPPH), Lissencephaly X-linked with ambiguous genitalia ...
http://www.ninds.nih.gov/news_and_events/proceedings/Hydrocephalus_2005.htm
www.ninds.nih.gov
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307000
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307000
www.ncbi.nlm.nih.gov
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VACTERL with Hydrocephalus - Yahoo! Health
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... that the main title of the report VACTERL with Hydrocephalus is not the name you expected. Please check the ... recessive or X-linked recessive trait. ...
http://health.yahoo.com/children-overview/vacterl-with-hydro...
health.yahoo.com
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MIM Gene map
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Ichthyosis, X-linked, 308100 (3) nonlyonizing. F, S, D. X,Y(Sts) Xp22.32 ... group B, 300514 (3); VACTERLassociation with hydrocephalus, X-linked, 314390 (3) ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=X
www.ncbi.nlm.nih.gov
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Adrenoleukodystrophy - Wikipedia, the free encyclopedia
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Intracranial hypertension (Hydrocephalus/Normal pressure, Idiopathic ... X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA ...
http://en.wikipedia.org/wiki/Adrenoleukodystrophy
en.wikipedia.org
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MIM Gene map
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Hydrocephalus due to aqueductal stenosis, 307000 (3); MASA syndrome,303350 (3) ... Myopathy, X-linked, with excessive autophagy. 310440 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l300048
www.ncbi.nlm.nih.gov
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MIM Gene map
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... group B, 300514 (3); VACTERLassociation with hydrocephalus, X-linked, 314390 (3) ... Chondrodysplasia punctata, X-linked recessive, 302950 (3) ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l314390
www.ncbi.nlm.nih.gov
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Fanconi anaemia complementation group B presenting as X linked VACTERL ...
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BACKGROUND: The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised ... Genes, X-Linked/genetics* Humans. Hydrocephalus/genetics* Introns/genetics. Male ...
http://www.ncbi.nlm.nih.gov/pubmed/16679491
www.ncbi.nlm.nih.gov
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Aicardi Syndrome - Wikipedia
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Hyperlinked overview with history, epidemiology, pathophysiology, features, diagnosis, treatments, and prognosis.
http://en.wikipedia.org/wiki/Aicardi_syndrome
en.wikipedia.org
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OMIM Update List for February, 2009
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Clinical Synopsis for 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF ... 300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.2009
www.ncbi.nlm.nih.gov
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Pediatric Perspectives
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fetal hydrocephalus secondary to X-linked aq- ueductal stenosis, due to an L1CAM gene muta ... X-Linked Aqueductal. Hydrocephalus. Page 6 | Pediatric ...
http://my.clevelandclinic.org/Documents/Childrens_Hospital/0...
my.clevelandclinic.org
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X-Linked Periventricular Heterotopia -- GeneReviews -- NCBI Bookshelf
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For women with X-linked PH, the risk of passing the mutation to each ... heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-pvh
www.ncbi.nlm.nih.gov
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X-Linked Periventricular Heterotopia
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X-linked periventricular heterotopia (PH), a neuronal migration ... The diagnosis of X-linked PH is established by brain ... hydrocephalus [Parrini et al 2006] ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Coffin-Lowry syndrome - Wikipedia, the free encyclopedia
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... fingers, characteristic facies, and possible hydrocephalus. ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/Coffin-Lowry_syndrome
en.wikipedia.org
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AceView: gene:FANCB, a comprehensive annotation of human, mouse and ...
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AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... hydrocephalus, X-linked) and ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=FANCB
www.ncbi.nlm.nih.gov
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Agenesis of Corpus Callosum - Yahoo! Health
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X-Linked Dominant Inheritance ACC (e.g. ARX) Acquired Form of ACC ... Guardians of Hydrocephalus Research Foundation. 2618 Avenue Z. Brooklyn, NY 11235 ...
http://health.yahoo.com/other-other/agenesis-of-corpus-callo...
health.yahoo.com
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OMIM Update List for January, 2007
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300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL ... 314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED. 600400 PROLYL ENDOPEPTIDASE; PREP ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2007
www.ncbi.nlm.nih.gov
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National Institute of Neurological Disorders and Stroke (NINDS)
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Part of the U.S. National Institutes of Health which conducts and supports research on brain and nervous system disorders. Site features background information, neurological disorder index, research laboratories, funding details, press releases, as well as training and career development opportunities for clinician scientists.
http://www.ninds.nih.gov/
www.ninds.nih.gov
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OMIM Update List for November, 2002
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276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS. 305600 FOCAL DERMAL HYPOPLASIA; DHOF. 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2002
www.ncbi.nlm.nih.gov
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