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X linked hydrocephalus and MASA syndrome.
Kenwrick S, Jouet M, Donnai D. Kenwrick S, et al. J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59. J Med Genet. 1996. PMID: 8825051 Free PMC article. Review.
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. ...This was confirmed by identification of mutations in patients with X linked hydroc …
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X link …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. ...The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple …
Genetics and Molecular Pathogenesis of Human Hydrocephalus.
Garcia-Bonilla M, McAllister JP, Limbrick DD. Garcia-Bonilla M, et al. Neurol India. 2021 Nov-Dec;69(Supplement):S268-S274. doi: 10.4103/0028-3886.332249. Neurol India. 2021. PMID: 35102976 Free article. Review.
Hydrocephalus is a neurological disorder with an incidence of 80-125 per 100,000 live births in the United States. ...This review aims to discuss the genetic and molecular alterations described in human hydrocephalus, from well-characterized, heritable forms of h …
Hydrocephalus is a neurological disorder with an incidence of 80-125 per 100,000 live births in the United States. ...This review aim …
Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases.
Yamasaki M, Kanemura Y. Yamasaki M, et al. Neurol Med Chir (Tokyo). 2015;55(8):640-6. doi: 10.2176/nmc.ra.2015-0075. Epub 2015 Jul 31. Neurol Med Chir (Tokyo). 2015. PMID: 26227058 Free PMC article. Review.
We are beginning to understand the molecular biology of hydrocephalus and its related diseases. X-linked hydrocephalus (XLH), holoprosencephaly (HPE), Dandy-Walker malformation (DWM), and neural tube defect (NTD) can all be discussed with respect to th …
We are beginning to understand the molecular biology of hydrocephalus and its related diseases. X-linked hydrocephal …
Mucopolysaccharidoses: overview of neuroimaging manifestations.
Nicolas-Jilwan M, AlSayed M. Nicolas-Jilwan M, et al. Pediatr Radiol. 2018 Sep;48(10):1503-1520. doi: 10.1007/s00247-018-4139-3. Epub 2018 May 11. Pediatr Radiol. 2018. PMID: 29752520 Review.
Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. ...These i …
Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and …
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S, Gärtner J. Weller S, et al. Hum Mutat. 2001;18(1):1-12. doi: 10.1002/humu.1144. Hum Mutat. 2001. PMID: 11438988 Review.
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenes …
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spasti …
VACTERL with hydrocephalus: family with X-linked VACTERL-H.
Lomas FE, Dahlstrom JE, Ford JH. Lomas FE, et al. Am J Med Genet. 1998 Feb 26;76(1):74-8. doi: 10.1002/(sici)1096-8628(19980226)76:1<74::aid-ajmg14>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9508070 Review.
X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked VACTERL-H syndrome. ...In the absence of a genetic marker, diagnostic ultrasonography is the investigation of choice for early in uter …
X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked V …
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
Schrander-Stumpel C, Fryns JP. Schrander-Stumpel C, et al. Eur J Pediatr. 1998 May;157(5):355-62. doi: 10.1007/s004310050830. Eur J Pediatr. 1998. PMID: 9625330 Review.
The incidence is 0.4-0.8 per 1000 liveborns and stillbirths. X-linked hydrocephalus comprises approximately 5% of all cases. ...Carrier detection and prenatal diagnosis can be offered to affected families by means of chorionic villus biopsy and linkage analys …
The incidence is 0.4-0.8 per 1000 liveborns and stillbirths. X-linked hydrocephalus comprises approximately 5% of all c …
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
Stratton RF, Bluestone DL. Stratton RF, et al. Am J Med Genet. 1991 Nov 1;41(2):169-72. doi: 10.1002/ajmg.1320410206. Am J Med Genet. 1991. PMID: 1785627 Review.
We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association wit …
We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydroceph …
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.
Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP. Kobayashi H, et al. J Neurol Sci. 1996 May;137(2):131-8. doi: 10.1016/0022-510x(95)00349-7. J Neurol Sci. 1996. PMID: 8782167 Review.
MASA (mental retardation, aphasia, spastic paraplegia, adducted thumbs) syndrome and X-linked hydrocephalus. SPG2 shows mutations in one of the major myelin proteins, the proteolipid protein (PLP) gene, and is allelic to Pelizaeus-Merzbacher disease. T …
MASA (mental retardation, aphasia, spastic paraplegia, adducted thumbs) syndrome and X-linked hydrocephalus. SPG …
32 results