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

Year Number of Results
1977 1
1980 2
1982 1
1983 1
1984 1
1987 5
1988 5
1989 3
1990 5
1991 6
1992 7
1993 9
1994 11
1995 12
1996 9
1997 5
1998 11
1999 9
2000 15
2001 16
2002 11
2003 17
2004 20
2005 20
2006 17
2007 18
2008 17
2009 20
2010 18
2011 18
2012 19
2013 17
2014 25
2015 11
2016 9
2017 12
2018 19
2019 18
2020 12
2021 13
2022 17
2023 16
2024 3

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463 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 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 …
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. ...In addition, we provide detailed clinical information on selected adult-onset leukodystrophie …
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic …
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 …
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 …
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, …
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 …
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.
RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. ...Mutations in RAB39B cause an X-linked Parkinsonian disorder. Mutations in the new dominant PD genes have generally been found in m …
RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. ...Mutations in RAB39 …
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of K …
Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, inc …
463 results