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

Year Number of Results
1965 1
1975 2
1976 4
1977 5
1978 2
1979 2
1980 3
1981 2
1982 2
1983 5
1984 4
1985 6
1986 1
1987 13
1988 27
1989 37
1990 32
1991 51
1992 52
1993 62
1994 67
1995 87
1996 63
1997 78
1998 92
1999 81
2000 92
2001 94
2002 85
2003 100
2004 122
2005 120
2006 112
2007 96
2008 113
2009 106
2010 104
2011 104
2012 116
2013 102
2014 129
2015 119
2016 112
2017 115
2018 120
2019 95
2020 102
2021 97
2022 93
2023 107
2024 36

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3,148 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 au …
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 autosom …
Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired con …
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
The COL4A3 and COL4A4 genes occur head-to-head on chromosome 2, and inheritance is autosomal dominant when both variants affect the same chromosome (in cis) or recessive when they affect different chromosomes (in trans). This form of digenic disease results i …
The COL4A3 and COL4A4 genes occur head-to-head on chromosome 2, and inheritance is autosomal dominant when both variant …
The diagnostic protocol for hereditary spherocytosis-2021 update.
Wu Y, Liao L, Lin F. Wu Y, et al. J Clin Lab Anal. 2021 Dec;35(12):e24034. doi: 10.1002/jcla.24034. Epub 2021 Oct 24. J Clin Lab Anal. 2021. PMID: 34689357 Free PMC article. Review.
BACKGROUND: Hereditary spherocytosis (HS), a commonly encountered hereditary hemolytic disease, is mostly inherited in an autosomal dominant manner. The clinical manifestations in patients with HS show obvious heterogeneity. ...
BACKGROUND: Hereditary spherocytosis (HS), a commonly encountered hereditary hemolytic disease, is mostly inherited in an autosoma …
The Limb-Girdle Muscular Dystrophies.
Johnson NE, Statland JM. Johnson NE, et al. Continuum (Minneap Minn). 2022 Dec 1;28(6):1698-1714. doi: 10.1212/CON.0000000000001178. Continuum (Minneap Minn). 2022. PMID: 36537976 Review.
PURPOSE OF REVIEW: The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders with a common feature of limb-girdle pattern of weakness, caused by over 29 individual genes. ...RECENT FINDINGS: Advances in genetic testing and next-generation seque …
PURPOSE OF REVIEW: The limb-girdle muscular dystrophies (LGMDs) are a group of inherited muscle disorders with a common feature of li …
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V. Singh S, et al. Curr Atheroscler Rep. 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. Curr Atheroscler Rep. 2015. PMID: 25612857 Review.
Mutations in four genes have been noted in patients with familial hypercholesterolemia (FH): LDL receptor (most common), apolipoprotein B (Apo B), proprotein convertase subtilin/kexin 9 (PCSK9), and low-density lipoprotein receptor adaptor protein (LDLRAP). In most cases, inhe …
Mutations in four genes have been noted in patients with familial hypercholesterolemia (FH): LDL receptor (most common), apolipoprotein B (A …
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS, Ikram S, Bibi N, Mir A. Ahmed MS, et al. Mol Neurobiol. 2018 May;55(5):4417-4427. doi: 10.1007/s12035-017-0610-7. Epub 2017 Jun 28. Mol Neurobiol. 2018. PMID: 28660486 Review.
Progeria is sporadic, very rare, autosomal dominant, deadly childhood disorder. It is one of the progeroid syndromes also known as Hutchinson-Gilford progeria syndrome (HGPS). ...The lifespan of the patient is normally up to teen age or early twenties. It is usually …
Progeria is sporadic, very rare, autosomal dominant, deadly childhood disorder. It is one of the progeroid syndromes also know …
Monogenic hyperlipidemias.
Krasi G, Bushati V, Precone V, Cortese B, Agostini F, Tezzele S, Baglivo M, Cecchin S, Aquilanti B, Velluti V, Matera G, Gagliardi L, Miggiano GAD, Bertelli M. Krasi G, et al. Acta Biomed. 2019 Sep 30;90(10-S):47-49. doi: 10.23750/abm.v90i10-S.8757. Acta Biomed. 2019. PMID: 31577253 Free PMC article. Review.
Monogenic hyperlipidemias are a group of inherited disorders characterized by elevated plasma concentrations of lipids and lipoproteins. ...Genetic testing is useful for confirming diagnosis and for differential diagnosis, recurrence risk calculation and prenatal diagnosis …
Monogenic hyperlipidemias are a group of inherited disorders characterized by elevated plasma concentrations of lipids and lipoprotei …
Ataxia.
Akbar U, Ashizawa T. Akbar U, et al. Neurol Clin. 2015 Feb;33(1):225-48. doi: 10.1016/j.ncl.2014.09.004. Neurol Clin. 2015. PMID: 25432731 Free PMC article. Review.
A discussion of the ataxias is presented here with brief mention of acquired ataxias, and a greater focus on inherited ataxias....
A discussion of the ataxias is presented here with brief mention of acquired ataxias, and a greater focus on inherited ataxias....
Autosomal dominant tubulointerstitial kidney disease: A review.
Živná M, Kidd KO, Barešová V, Hůlková H, Kmoch S, Bleyer AJ Sr. Živná M, et al. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):309-324. doi: 10.1002/ajmg.c.32008. Epub 2022 Oct 17. Am J Med Genet C Semin Med Genet. 2022. PMID: 36250282 Free PMC article. Review.
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many patients reaching end stage renal disease (ESRD) between age 20 and 70 years, and …
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, s …
3,148 results