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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Taşdelen E, Durmaz CD, Karabulut HG. Taşdelen E, et al. Cytogenet Genome Res. 2018;154(4):181-186. doi: 10.1159/000489000. Epub 2018 Jun 15. Cytogenet Genome Res. 2018. PMID: 29902798 Free article. Review.
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ...This is the third family in the literature in which ODDD segregates in an autosomal recessive …
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of t …
Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance.
Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leão LL, de Aguiar MJ. Frasson M, et al. Ophthalmic Genet. 2004 Sep;25(3):227-36. doi: 10.1080/13816810490513424. Ophthalmic Genet. 2004. PMID: 15512999 Review.
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal …
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. …
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.
Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Joss SK, et al. Eur J Pediatr. 2008 Mar;167(3):341-5. doi: 10.1007/s00431-007-0468-1. Epub 2007 May 3. Eur J Pediatr. 2008. PMID: 17476528 Review.
Individuals with oculodentodigital dysplasia (ODDD) have a characteristic facial appearance and variable involvement of the eyes, teeth and fingers. ...We describe clinical, including neurological and radiological findings, in two sisters with autosomal re …
Individuals with oculodentodigital dysplasia (ODDD) have a characteristic facial appearance and variable involvement of the ey …
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
Laird DW. Laird DW. J Biol Chem. 2008 Feb 8;283(6):2997-3001. doi: 10.1074/jbc.R700041200. Epub 2007 Dec 18. J Biol Chem. 2008. PMID: 18089569 Free article. Review.
For instance, the most prevalent connexin in the human body is connexin-43 (Cx43), yet autosomal dominant mutations in the GJA1 gene, which encodes Cx43, exhibit modest developmental disorders resulting in a disease termed oculodentodigital dysplasia. Auto …
For instance, the most prevalent connexin in the human body is connexin-43 (Cx43), yet autosomal dominant mutations in the GJA1 gene, …