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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 hydrocephalus an …
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked …
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B.
Hannah J, Zhou P. Hannah J, et al. Gene. 2015 Nov 15;573(1):33-45. doi: 10.1016/j.gene.2015.08.064. Epub 2015 Sep 3. Gene. 2015. PMID: 26344709 Free PMC article. Review.
The cullin 4 subfamily of genes includes CUL4A and CUL4B, which share a mostly identical amino acid sequence aside from the elongated N-terminal region in CUL4B. ...Also, mutations in CUL4B have been implicated in a subset of patients suffering from syndromic X …
The cullin 4 subfamily of genes includes CUL4A and CUL4B, which share a mostly identical amino acid sequence aside from the elongated …
Nutritional factors in a mouse model of Rett syndrome.
Nag N, Ward B, Berger-Sweeney JE. Nag N, et al. Neurosci Biobehav Rev. 2009 Apr;33(4):586-92. doi: 10.1016/j.neubiorev.2008.03.007. Epub 2008 Apr 3. Neurosci Biobehav Rev. 2009. PMID: 18479749 Review.
Environmental factors such as nutrition and housing can influence behavioral and anatomical characteristics of several neurological disorders, including Rett syndrome (RTT). RTT is associated with mutations in the X-linked gene encoding MeCP2, a transcription …
Environmental factors such as nutrition and housing can influence behavioral and anatomical characteristics of several neurological disorder …
Dysregulated brain immunity and neurotrophin signaling in Rett syndrome and autism spectrum disorders.
Theoharides TC, Athanassiou M, Panagiotidou S, Doyle R. Theoharides TC, et al. J Neuroimmunol. 2015 Feb 15;279:33-8. doi: 10.1016/j.jneuroim.2014.12.003. Epub 2014 Dec 4. J Neuroimmunol. 2015. PMID: 25669997 Review.
It is transmitted as an X-linked dominant linked to mutations of the methyl-CpG-binding protein (MeCP2), a gene transcription suppressor, but its definitive pathogenesis is unknown thus hindering development of effective treatments. ...There are a number of i …
It is transmitted as an X-linked dominant linked to mutations of the methyl-CpG-binding protein (MeCP2), a gene transcr …
Lissencephaly and other malformations of cortical development: 1995 update.
Dobyns WB, Truwit CL. Dobyns WB, et al. Neuropediatrics. 1995 Jun;26(3):132-47. doi: 10.1055/s-2007-979744. Neuropediatrics. 1995. PMID: 7477752 Review.
Among them are syndromes with several different patterns of inheritance including chromosomal or new mutation autosomal dominant, autosomal recessive, X-linked and unknown. ...X-linked lissencephaly has tentatively been mapped to chromosome Xq22 …
Among them are syndromes with several different patterns of inheritance including chromosomal or new mutation autosomal dominant, aut …
Down syndrome, drug metabolism and chromosome 21.
Taub JW, Ge Y. Taub JW, et al. Pediatr Blood Cancer. 2005 Jan;44(1):33-9. doi: 10.1002/pbc.20092. Pediatr Blood Cancer. 2005. PMID: 15390307 Review.
It has been recognized that chromosomal abnormalities in childhood leukemia, are linked to both leukemogenesis and segregate patients into prognostic treatment groups. ...The high event-free survival (EFS) rates of DS AML patients and in particular, patients with megakaryo …
It has been recognized that chromosomal abnormalities in childhood leukemia, are linked to both leukemogenesis and segregate patients …
Menkes disease and infantile epilepsy.
Prasad AN, Levin S, Rupar CA, Prasad C. Prasad AN, et al. Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Brain Dev. 2011. PMID: 21924848 Review.
OBJECTIVES: Menkes disease, an X linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting ATPase (ATP7A). ...Microarray studies suggest widespread effects in dysregulation of genes involved in cellula …
OBJECTIVES: Menkes disease, an X linked recessive neurodegenerative disorder, results from a mutation in the gene coding for t …
Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects.
Kodama H, Fujisawa C, Bhadhprasit W. Kodama H, et al. Brain Dev. 2011 Mar;33(3):243-51. doi: 10.1016/j.braindev.2010.10.021. Epub 2010 Nov 26. Brain Dev. 2011. PMID: 21112168 Review.
Genetic disorders of copper metabolism, including Menkes kinky hair disease (MD), occipital horn syndrome (OHS) and Wilson's disease (WD) are reviewed with a focus on the neurological aspects. MD and OHS are X-linked recessive disorders characterized b …
Genetic disorders of copper metabolism, including Menkes kinky hair disease (MD), occipital horn syndrome (OHS) and Wilson's d …
Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.
König R, Fuchs S, Kern C, Langenbeck U. König R, et al. Am J Med Genet. 1991 Feb-Mar;38(2-3):244-7. doi: 10.1002/ajmg.1320380215. Am J Med Genet. 1991. PMID: 2018065 Review.
We report on a family with 2 affected males with the X-linked Simpson-Golabi-Behmel (SGB) syndrome. The propositus was a 33-year-old man with pre- and postnatal overgrowth, "coarse" face with hypertelorism, broad nose, wide mouth, malposition of teeth, …
We report on a family with 2 affected males with the X-linked Simpson-Golabi-Behmel (SGB) syndrome. The propositus was …
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.
Azzolini S, Nosadini M, Balzarin M, Sartori S, Suppiej A, Mardari R, Greggio NA, Toldo I. Azzolini S, et al. Brain Dev. 2014 Sep;36(8):716-20. doi: 10.1016/j.braindev.2013.10.009. Epub 2013 Nov 19. Brain Dev. 2014. PMID: 24268987 Review.
INTRODUCTION: Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic pa …
INTRODUCTION: Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transpo …
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