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

Year Number of Results
1955 1
1961 1
1962 1
1964 1
1965 4
1967 3
1968 3
1969 3
1970 6
1971 18
1972 9
1973 11
1974 16
1975 67
1976 82
1977 74
1978 96
1979 78
1980 98
1981 100
1982 105
1983 111
1984 117
1985 143
1986 101
1987 141
1988 172
1989 189
1990 169
1991 196
1992 223
1993 676
1994 260
1995 321
1996 297
1997 352
1998 354
1999 372
2000 371
2001 378
2002 359
2003 363
2004 402
2005 420
2006 435
2007 429
2008 465
2009 469
2010 455
2011 465
2012 512
2013 493
2014 584
2015 577
2016 555
2017 595
2018 628
2019 642
2020 789
2021 697
2022 767
2023 772
2024 745
2025 799
2026 395

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17,393 results

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Page 1
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.
Bleyer AJ, Kidd KO, Živná M, Kmoch S. Bleyer AJ, et al. Am J Kidney Dis. 2025 Nov;86(5):677-689. doi: 10.1053/j.ajkd.2025.05.015. Epub 2025 Aug 18. Am J Kidney Dis. 2025. PMID: 40835155 Review.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized rare condition with 3 primary characteristics: autosomal dominant inheritance, bland urinary sediment (absence of hematuria and proteinuria), and chronic …
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized rare condition with 3 primary chara …
Polycystic Kidney Disease, Autosomal Dominant.
Harris PC, Torres VE. Harris PC, et al. 2002 Jan 10 [updated 2022 Sep 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2002 Jan 10 [updated 2022 Sep 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301424 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. ...GENETIC COUNSELING: In most affect …
CLINICAL CHARACTERISTICS: Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder …
POLG-Related Disorders.
Cohen BH, Chinnery PF, Copeland WC. Cohen BH, et al. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301791 Free Books & Documents. Review.
GENETIC COUNSELING: Early-onset and juvenile/adult-onset POLG-related disorders are typically caused by biallelic pathogenic variants and inherited in an autosomal recessive manner. Late-onset PEO may be caused by a heterozygous POLG pathogenic variant and inherited …
GENETIC COUNSELING: Early-onset and juvenile/adult-onset POLG-related disorders are typically caused by biallelic pathogenic variants and …
Stickler Syndrome.
Mortier G. Mortier G. 2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301479 Free Books & Documents. Review.
GENETIC COUNSELING: Stickler syndrome caused by pathogenic variants in COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal r …
GENETIC COUNSELING: Stickler syndrome caused by pathogenic variants in COL2A1, COL11A1, or COL11A2 is inherited in an autosomal …
Autosomal dominant inheritance of spondyloenchondrodysplasia.
Bhargava R, Leonard NJ, Chan AK, Spranger J. Bhargava R, et al. Am J Med Genet A. 2005 Jun 15;135(3):282-8. doi: 10.1002/ajmg.a.30732. Am J Med Genet A. 2005. PMID: 15887273 Review.
Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. ...Transmission from mother to son su …
Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal r …
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 …
Autosomal dominant inheritance of infantile myofibromatosis.
Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH. Zand DJ, et al. Am J Med Genet A. 2004 Apr 30;126A(3):261-6. doi: 10.1002/ajmg.a.20598. Am J Med Genet A. 2004. PMID: 15054839 Review.
We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner. These three pedigrees prompted re-assessment of pedigrees available within the genetic, oncologic, surgical, and pathologic literatu …
We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) …
TBC1D24-Related Disorders.
Balestrini S, Campeau PM, Mei D, Guerrini R, Sisodiya S. Balestrini S, et al. 2015 Feb 26 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2015 Feb 26 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 25719194 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), with profound sensorineural hearin …
CLINICAL CHARACTERISTICS: TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized …
Multiple Epiphyseal Dysplasia, Autosomal Dominant.
Briggs MD, Wright MJ, Mortier GR. Briggs MD, et al. 2003 Jan 8 [updated 2024 Jul 4]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2003 Jan 8 [updated 2024 Jul 4]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301302 Free Books & Documents. Review.
Agents/circumstances to avoid: Obesity; exercise causing repetitive strain on affected joints. GENETIC COUNSELING: By definition, autosomal dominant MED is inherited in an autosomal dominant manner. Many individuals with autosomal domi …
Agents/circumstances to avoid: Obesity; exercise causing repetitive strain on affected joints. GENETIC COUNSELING: By definition, autosom …
Kabuki Syndrome.
Adam MP, Hannibal M. Adam MP, et al. 2011 Sep 1 [updated 2026 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2011 Sep 1 [updated 2026 Apr 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 21882399 Free Books & Documents. Review.
GENETIC COUNSELING: KMT2D-related KS is inherited in an autosomal dominant manner; KDM6A-related KS is inherited in an X-linked manner. Autosomal dominant inheritance: The proportion of KS caused by a de novo KMT2D pathogenic varia …
GENETIC COUNSELING: KMT2D-related KS is inherited in an autosomal dominant manner; KDM6A-related KS is inherited …
17,393 results
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