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X-linked Hydrocephalus

Also Known As:
Hydrocephalus, X-linked; Aqueductal stenosis, X-linked; Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Networked: 66 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Kanemura, Yonehiro: 3 articles (01/2015 - 05/2008)
2. Yamasaki, Mami: 3 articles (01/2015 - 05/2008)
3. Gal, Andreas: 2 articles (12/2002 - 05/2002)
4. Itoh, Kyoko: 1 article (02/2015)
5. Fushiki, Shinji: 1 article (02/2015)
6. Chidsey, Brandalyn A: 1 article (06/2014)
7. Stevenson, David A: 1 article (06/2014)
8. Hanson, Heather: 1 article (06/2014)
9. Ahles, Lauren: 1 article (06/2014)
10. Toydemir, Reha: 1 article (06/2014)

Related Diseases

1. Hydrocephalus (Hydrocephaly)
2. Mental Retardation (Idiocy)
3. Paraplegia (Spastic Paraplegia)
4. Pathologic Constriction (Stenosis)
5. Neurologic Gait Disorders (Gait, Hemiplegic)
03/22/1996 - "Recently, two mutations (R184Q and H210Q) within the Ig2 region of the human L1 gene have been shown to be responsible for X-linked hydrocephalus and the related MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome. "
06/01/1995 - "Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). "
06/01/2014 - "Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum. "
07/12/1996 - "Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). "
01/01/2005 - "X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. "

Related Drugs and Biologics

1. methyl N-acetylsibirosaminide (MASA)
2. Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation
3. Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)
4. SAS
5. Prostaglandins D (PGD)
6. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)
7. Genetic Markers (Genetic Marker)
8. DNA (Deoxyribonucleic Acid)
9. Carbon Monoxide