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

Year Number of Results
1971 3
1972 1
1974 2
1975 4
1976 3
1977 1
1978 1
1979 1
1980 2
1981 3
1982 2
1983 2
1984 5
1986 1
1987 5
1989 5
1990 10
1991 3
1992 6
1993 5
1994 4
1995 11
1996 6
1997 8
1998 7
1999 11
2000 8
2001 15
2002 9
2003 15
2004 8
2005 13
2006 16
2007 19
2008 24
2009 17
2010 14
2011 21
2012 25
2013 24
2014 38
2015 23
2016 33
2017 30
2018 36
2019 39
2020 49
2021 39
2022 51
2023 38
2024 7

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648 results

Results by year

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Page 1
Dyskeratosis congenita: a literature review.
AlSabbagh MM. AlSabbagh MM. J Dtsch Dermatol Ges. 2020 Sep;18(9):943-967. doi: 10.1111/ddg.14268. Epub 2020 Sep 15. J Dtsch Dermatol Ges. 2020. PMID: 32930426 Review.
Dyskeratosis congenita is a rare hereditary disease that occurs predominantly in males and manifests clinically as the classic triad of reticulate hyperpigmentation, nail dystrophy and leukoplakia. ...
Dyskeratosis congenita is a rare hereditary disease that occurs predominantly in males and manifests clinically as the classic …
Alkaptonuria.
Grosicka A, Kucharz EJ. Grosicka A, et al. Wiad Lek. 2009;62(3):197-203. Wiad Lek. 2009. PMID: 20229718 Review.
Alkaptonuria is a hereditary disease resulted from accumulation of homogentisic acid within the body due to deficiency of homogentisic acid oxidase. ...
Alkaptonuria is a hereditary disease resulted from accumulation of homogentisic acid within the body due to deficiency of homo …
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr. Ghata J, et al. Compr Physiol. 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. Compr Physiol. 2017. PMID: 28640449 Review.
Autosomal dominant (AD) PKD is the most common potentially fatal hereditary disease in humans, causes renal failure in approximately 50% of affected individuals, and accounts for approximately 5% of end stage renal disease cases in the United States. ...An increasin …
Autosomal dominant (AD) PKD is the most common potentially fatal hereditary disease in humans, causes renal failure in approxi …
Retinoblastoma.
Lohmann D. Lohmann D. Adv Exp Med Biol. 2010;685:220-7. doi: 10.1007/978-1-4419-6448-9_21. Adv Exp Med Biol. 2010. PMID: 20687510 Review.
In families, Rb predisposition is transmitted as an autosomal dominant trait (familial Rb). In addition to Rb, patients with hereditary disease also have an increased risk of tumors outside the eye (second cancer). ...
In families, Rb predisposition is transmitted as an autosomal dominant trait (familial Rb). In addition to Rb, patients with hereditary …
Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.
Turchini J, Gill AJ. Turchini J, et al. Endocr Pathol. 2020 Sep;31(3):218-230. doi: 10.1007/s12022-020-09631-4. Endocr Pathol. 2020. PMID: 32468209 Review.
However, a small but significant number of parathyroid gland excisions may be due to heritable disease. In most cases, hereditary disease is suspected by the referring clinicians. Nevertheless, a subset of these are undetected which is significant, particularly in t …
However, a small but significant number of parathyroid gland excisions may be due to heritable disease. In most cases, hereditary …
Glucocorticoid resistance.
van Rossum EFC, van den Akker ELT. van Rossum EFC, et al. Endocr Dev. 2011;20:127-136. doi: 10.1159/000321234. Epub 2010 Dec 16. Endocr Dev. 2011. PMID: 21164266 Review.
Changes in glucocorticoid (GC) receptor sensitivity can be categorized in three different types. First, generalized GC resistance syndrome is a hereditary disease. Patients present with signs and symptoms of increased androgen and/or mineralocorticoid action, combin …
Changes in glucocorticoid (GC) receptor sensitivity can be categorized in three different types. First, generalized GC resistance syndrome i …
Bovine spastic syndrome: a review.
Goeckmann V, Rothammer S, Medugorac I. Goeckmann V, et al. Vet Rec. 2018 Jun 16;182(24):693. doi: 10.1136/vr.104814. Epub 2018 Apr 20. Vet Rec. 2018. PMID: 29678888 Review.
Although still not irrevocably proven, BSS is assumed to be a hereditary disease. Therefore, affected animals should be excluded from breeding, which negatively affects economics and breeding. ...
Although still not irrevocably proven, BSS is assumed to be a hereditary disease. Therefore, affected animals should be exclud …
Hereditary dentin defects with systemic diseases.
Su T, Zhu Y, Wang X, Zhu Q, Duan X. Su T, et al. Oral Dis. 2023 Sep;29(6):2376-2393. doi: 10.1111/odi.14589. Epub 2023 Apr 24. Oral Dis. 2023. PMID: 37094075 Review.
Fanconi anemia.
Bagby GC, Alter BP. Bagby GC, et al. Semin Hematol. 2006 Jul;43(3):147-56. doi: 10.1053/j.seminhematol.2006.04.005. Semin Hematol. 2006. PMID: 16822457 Review.
Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and developmental anomalies; a high incidence of myelodysplasia (MDS), acute nonlymphocytic leukemia (AML), and solid tumors; and cellular hypersensitivity to cross-linking agents. …
Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and developmental anomalies; a high inci …
Recent Status in Brugada Syndrome.
Bayrak F, Brugada P. Bayrak F, et al. Turk Kardiyol Dern Ars. 2022 Mar 1;50(2):137-144. doi: 10.5543/tkda.2022.21020. Turk Kardiyol Dern Ars. 2022. PMID: 35400636 Free article. Review.
Brugada Syndrome is one of the most common reasons for sudden cardiac death (4-12%) and is a hereditary disease with an autosomal dominant pattern of transmission with nearly 300 pathogenic variants in 19 responsible genes published. ...
Brugada Syndrome is one of the most common reasons for sudden cardiac death (4-12%) and is a hereditary disease with an autoso …
648 results