|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)|
05/01/1998 - "In general, recurrence risk for congenital hydrocephalus excluding X-linked hydrocephalus, is low; empiric risk figures found in various studies range from <1% to 4%. "
09/01/2003 - "If isolated hydrocephalus is seen, gender determination is appropriate in the consideration of X-linked hydrocephalus secondary to aqueductal stenosis. "
12/01/2000 - "X-linked hydrocephalus (HLX) is a form of hydrocephalus with recessive transmission linked to the X chromosome, and a recurrence rate of 50% in male foetuses. "
12/01/1996 - "X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in females. "
01/21/1995 - "X-linked hydrocephalus is the most common form of inherited hydrocephalus, and is associated with severe neurological deficits and premature death. "
|2.||Mental Retardation (Idiocy)
02/01/2015 - "A number of X-linked forms of mental retardation have been associated with mutations in the L1 gene, including X-linked hydrocephalus in humans. "
08/01/1987 - "We report on a family with X-linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been "nonspecific" mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene. "
12/01/2002 - "Mutations in L1CAM, the gene encoding the transmembrane multifunctional neuronal adhesion molecule L1, are associated with neurodevelopmental disorders including X-linked hydrocephalus and mental retardation. "
01/01/1994 - "X-linked hydrocephalus and the X-linked MASA syndrome (Mental retardation. "
10/01/1992 - "A locus for X-linked hydrocephalus (HSAS), which is characterized by mental retardation and enlarged brain ventricles, maps to the same subchromosomal region (Xq28) as the gene for neural cell adhesion molecule L1. "
|3.||Paraplegia (Spastic Paraplegia)
05/22/1995 - "X-linked hydrocephalus (HSAS) (MIM *307000), MASA syndrome (MIM *303350), and complicated spastic paraplegia (SPG1) (MIM *312900) are closely related. "
05/22/1995 - "Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families."
07/01/1994 - "X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. "
07/01/1994 - "X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene."
01/01/1994 - "The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". "
|4.||Pathologic Constriction (Stenosis)
09/01/2009 - "X-linked hydrocephalus (XLH) is characterized by increased intracranial ventricle size and head circumference secondary to aqueduct of Sylvius congenital stenosis. "
07/01/1995 - "These results indicate that X-linked hydrocephalus is not a disease of simple ventriculomegaly due to aqueduct stenosis alone but involves other complicated central nervous system anomalies."
08/01/2000 - "The cases presented here are different from the cases of hydrocephalus due to stenosis of the aqueduct Sylvius (HSAS) and other types of X-linked hydrocephalus reported previously in terms of the age of onset, course, symptoms, and CT findings. "
06/01/1993 - "Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers."
07/01/1995 - "The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes. "
|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. "
|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)
|5.||Prostaglandins D (PGD)
|6.||Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)
|7.||Genetic Markers (Genetic Marker)
|8.||DNA (Deoxyribonucleic Acid)