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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1976 1
1977 1
1980 3
1982 4
1983 1
1986 1
1987 8
1988 4
1989 12
1990 9
1991 8
1992 5
1993 14
1994 10
1995 12
1996 14
1997 7
1998 11
1999 12
2000 14
2001 16
2002 14
2003 15
2004 17
2005 23
2006 20
2007 18
2008 21
2009 24
2010 19
2011 18
2012 18
2013 29
2014 23
2015 14
2016 14
2017 17
2018 24
2019 25
2020 17
2021 21
2022 20
2023 15
2024 3

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551 results

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Page 1
Charcot-Marie-Tooth: From Molecules to Therapy.
Morena J, Gupta A, Hoyle JC. Morena J, et al. Int J Mol Sci. 2019 Jul 12;20(14):3419. doi: 10.3390/ijms20143419. Int J Mol Sci. 2019. PMID: 31336816 Free PMC article. Review.
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inherita
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autos …
Hereditary thrombophilia.
Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M. Dautaj A, et al. Acta Biomed. 2019 Sep 30;90(10-S):44-46. doi: 10.23750/abm.v90i10-S.8758. Acta Biomed. 2019. PMID: 31577252 Free PMC article. Review.
Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired conditions. Thrombophilia is associated with risk of deep venous thrombosis and/or venous thromboembolism. ...Thrombophilia may have autosomal …
Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired con …
Hereditary spastic paraplegia.
Murala S, Nagarajan E, Bollu PC. Murala S, et al. Neurol Sci. 2021 Mar;42(3):883-894. doi: 10.1007/s10072-020-04981-7. Epub 2021 Jan 13. Neurol Sci. 2021. PMID: 33439395 Review.
The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types. Classification of HSP is based on inheritance pattern, clinical phenotype, and molecular pathophysiological mechanisms. ...
The estimated prevalence of HSP is around 1.8/100,000 cases for both autosomal dominant and autosomal recessive types. Classification …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
X-linked retinopathies represent a significant proportion of monogenic retinal disease. ...We review X-inactivation and X-linked inheritance, and explore burden of disease attributable to X-linked genes in our clinically and
X-linked retinopathies represent a significant proportion of monogenic retinal disease. ...We review X-inactivation and X
Diabetes insipidus--diagnosis and management.
Di Iorgi N, Napoli F, Allegri AE, Olivieri I, Bertelli E, Gallizia A, Rossi A, Maghnie M. Di Iorgi N, et al. Horm Res Paediatr. 2012;77(2):69-84. doi: 10.1159/000336333. Epub 2012 Mar 16. Horm Res Paediatr. 2012. PMID: 22433947 Free article. Review.
In rare cases, the underlying cause can be genetic defects in vasopressin synthesis that are inherited as autosomal dominant, autosomal recessive or X-linked recessive traits. ...
In rare cases, the underlying cause can be genetic defects in vasopressin synthesis that are inherited as autosomal dominant, autosom …
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M. Takeichi T, et al. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. J Dermatol. 2016. PMID: 26945532 Review.
These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder b …
These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of …
Familial exudative vitreoretinopathy and related retinopathies.
Gilmour DF. Gilmour DF. Eye (Lond). 2015 Jan;29(1):1-14. doi: 10.1038/eye.2014.70. Epub 2014 Oct 17. Eye (Lond). 2015. PMID: 25323851 Free PMC article. Review.
Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, autosomal recessive, or X-linked. FEVR patients have an avascular peripheral retina which, depending on the degree of isc …
Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. Cases can be autosomal dominant, au …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. Mutations in STRC account for 16% of the recessive cases, and only a few more (MYO15A, MYO7A, LOXHD1, USH2A, TMPRSS3, CDH23, TMC1, OTOF, OTOA, SLC26A4, ADGR …
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. Mutations in STRC accou …
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.
Puschmann A. Puschmann A. Curr Neurol Neurosci Rep. 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8. Curr Neurol Neurosci Rep. 2017. PMID: 28733970 Free PMC article. Review.
Mutations in RAB39B cause an X-linked Parkinsonian disorder. Mutations in the new dominant PD genes have generally been found in medium- to late-onset Parkinson's disease. Many mutations in the new recessive and X-chromosomal genes cause severe …
Mutations in RAB39B cause an X-linked Parkinsonian disorder. Mutations in the new dominant PD genes have generally been …
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or …
Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as c …
551 results