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Page 1
Osteogenesis imperfecta.
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Marini JC, et al. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Nat Rev Dis Primers. 2017. PMID: 28820180 Review.
The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by …
The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractur …
Non-syndromic, autosomal-recessive deafness.
Petersen MB, Willems PJ. Petersen MB, et al. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x. Clin Genet. 2006. PMID: 16650073 Review.
The wide range of functions of these DFNB genes reflects the heterogeneity of the genes involved in hearing and hearing loss. Several of these genes are involved in both recessive and dominant deafness, or in both non-syndromic and syndromic deafness. …
The wide range of functions of these DFNB genes reflects the heterogeneity of the genes involved in hearing and hearing los
[Genetics of congenital deafness].
Faundes V, Pardo RA, Castillo Taucher S. Faundes V, et al. Med Clin (Barc). 2012 Oct 20;139(10):446-51. doi: 10.1016/j.medcli.2012.02.014. Epub 2012 Apr 24. Med Clin (Barc). 2012. PMID: 22538062 Review. Spanish.
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ...More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss
Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. ... …
Molecular aspects of Alport's syndrome.
Weber M, Netzer KO, Pullig O. Weber M, et al. Clin Investig. 1992 Sep;70(9):809-15. doi: 10.1007/BF00180752. Clin Investig. 1992. PMID: 1450636 Review.
This inherited disease is defined as progressive nephritis with sensorineural hearing loss. In 80%-85% of the families, inheritance is compatible with X-linked dominant transmission, whereas in the remaining cases autosomal dominant trans …
This inherited disease is defined as progressive nephritis with sensorineural hearing loss. In 80%-85% of the families, …
[From Alport syndrome to benign familial hematuria: clinical and genetic aspect].
Maziers N, Dahan K, Pirson Y. Maziers N, et al. Nephrol Ther. 2005 May;1(2):90-100. doi: 10.1016/j.nephro.2005.03.005. Epub 2005 Jun 1. Nephrol Ther. 2005. PMID: 16895672 Review. French.
Alport syndrome (AS) is a hereditary glomerulonephritis variably associated with neural hearing loss and ocular abnormalities. The prevalence of the disease is estimated at approximately 1 in 50,000 live births. ...In the heterozygous individual, the clinical spectr …
Alport syndrome (AS) is a hereditary glomerulonephritis variably associated with neural hearing loss and ocular abnormalities. …