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Nonsyndromic types of ichthyoses - an update.
J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Epub 2013 Oct 11.
J Dtsch Dermatol Ges. 2014.
PMID: 24119255
Free article.
Review.
It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by …
It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X- …
Autism-lessons from the X chromosome.
Marco EJ, Skuse DH.
Marco EJ, et al.
Soc Cogn Affect Neurosci. 2006 Dec;1(3):183-93. doi: 10.1093/scan/nsl028.
Soc Cogn Affect Neurosci. 2006.
PMID: 18985105
Free PMC article.
Review.
In this review, we discuss three categories of genetic disease that highlight the importance of X-linked genes in the manifestation of an autistic phenotype: aneuploides (Turner syndrome and Klinefelter syndrome), trinucleotide expansions (Fragi …
In this review, we discuss three categories of genetic disease that highlight the importance of X-linked genes i …
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PGD gender selection for non-Mendelian disorders with unequal sex incidence.
Amor DJ, Cameron C.
Amor DJ, et al.
Hum Reprod. 2008 Apr;23(4):729-34. doi: 10.1093/humrep/dem433. Epub 2008 Jan 24.
Hum Reprod. 2008.
PMID: 18222917
Review.
Consideration should also be given to the interests of the family and the child to be born, the seriousness of the condition and the couple's procreative autonomy. To illustrate these issues we use the example of autism, a non-Mendelian disorder that is considerably …
Consideration should also be given to the interests of the family and the child to be born, the seriousness of the condition and the couple' …
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Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.
Nagy D, Farkas K, Armengol L, Segura M, Esi Zodanu GK, Csányi B, Zimmermann A, Vámos B, Széll M.
Nagy D, et al.
Eur J Med Genet. 2020 Apr;63(4):103800. doi: 10.1016/j.ejmg.2019.103800. Epub 2019 Oct 31.
Eur J Med Genet. 2020.
PMID: 31678216
Review.
No abstract available.
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