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

Year Number of Results
1933 1
1955 1
1957 2
1958 1
1961 1
1962 1
1963 3
1964 2
1965 7
1966 5
1967 8
1968 11
1969 13
1970 16
1971 46
1972 22
1973 21
1974 48
1975 153
1976 192
1977 183
1978 201
1979 196
1980 211
1981 229
1982 218
1983 248
1984 272
1985 311
1986 266
1987 314
1988 356
1989 385
1990 378
1991 413
1992 449
1993 1280
1994 506
1995 567
1996 580
1997 632
1998 653
1999 698
2000 719
2001 680
2002 685
2003 687
2004 754
2005 789
2006 809
2007 809
2008 873
2009 892
2010 904
2011 918
2012 1024
2013 1041
2014 1148
2015 1185
2016 1145
2017 1141
2018 1173
2019 1264
2020 1493
2021 1490
2022 1532
2023 1518
2024 1475
2025 1573
2026 784

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Search Results

34,386 results

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Page 1
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 …
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 inheri …
GENETIC COUNSELING: Early-onset and juvenile/adult-onset POLG-related disorders are typically caused by biallelic pathogenic variants and …
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 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 …
Spondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosoma …
SHOX Deficiency Disorders.
Binder G, Rappold GA. Binder G, et al. 2005 Dec 12 [updated 2024 May 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. 2005 Dec 12 [updated 2024 May 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: 20301394 Free Books & Documents. Review.
GENETIC COUNSELING: SHOX deficiency disorders are inherited in a pseudoautosomal dominant manner. In pseudoautosomal dominant inheritance, homologous genes located on the short arm of the X chromosome (Xp) and the short arm of the Y chromosome (Yp) follow the rules …
GENETIC COUNSELING: SHOX deficiency disorders are inherited in a pseudoautosomal dominant manner. In pseudoautosomal dominant inhe …
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.
GENETIC COUNSELING: Most TBC1D24-related disorders are inherited in an autosomal recessive manner (DOORS syndrome, FIME, PME, EPRPDC, and DEE [including EIMFS]). TBC1D24-related nonsyndromic hearing loss can be inherited in an autosomal recessive (DFNB …
GENETIC COUNSELING: Most TBC1D24-related disorders are inherited in an autosomal recessive manner (DOORS syndrome, FIME, PME, …
Loeys-Dietz Syndrome.
Loeys BL, Dietz HC. Loeys BL, et al. 2008 Feb 28 [updated 2024 Sep 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2008 Feb 28 [updated 2024 Sep 12]. 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: 20301312 Free Books & Documents. Review.
GENETIC COUNSELING: LDS caused by a pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 is inherited in an autosomal dominant manner. IPO8-related LDS is inherited in an autosomal recessive manner. ...Each child of an individual with LD …
GENETIC COUNSELING: LDS caused by a pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2 is inherited in an 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 variant is unknown …
GENETIC COUNSELING: KMT2D-related KS is inherited in an autosomal dominant manner; KDM6A-related KS is inherited in an …
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 literature, whi …
We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner. …
RNU4atac-opathy.
Duker A, Velasco D, Robertson N, Jackson A, DeFelice M, Bober MB. Duker A, et al. 2023 Feb 16. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2023 Feb 16. 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: 36795902 Free Books & Documents. Review.
GENETIC COUNSELING: RNU4atac-opathy is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an RNU4ATAC pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of b …
GENETIC COUNSELING: RNU4atac-opathy is inherited in an autosomal recessive manner. If both parents are known to be heterozygou …
34,386 results
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