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

Year Number of Results
1957 1
1958 1
1965 2
1966 3
1967 2
1968 1
1969 4
1970 9
1971 23
1972 10
1973 8
1974 27
1975 79
1976 91
1977 95
1978 87
1979 91
1980 105
1981 107
1982 95
1983 120
1984 140
1985 150
1986 126
1987 148
1988 160
1989 176
1990 190
1991 206
1992 204
1993 683
1994 250
1995 231
1996 259
1997 267
1998 298
1999 325
2000 351
2001 306
2002 345
2003 334
2004 361
2005 366
2006 378
2007 385
2008 403
2009 407
2010 416
2011 445
2012 517
2013 523
2014 571
2015 602
2016 593
2017 561
2018 609
2019 661
2020 765
2021 840
2022 855
2023 822
2024 797
2025 841
2026 430

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Search Results

16,987 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 …
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 …
GENETIC COUNSELING: Early-onset and juvenile/adult-onset POLG-related disorders are typically caused by biallelic pathogenic variants and …
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 reces …
GENETIC COUNSELING: Most TBC1D24-related disorders are inherited in an autosomal recessive manner (DOORS syndrome, FIME …
Fanconi Anemia.
Mehta PA, Ebens CL. Mehta PA, et al. 2002 Feb 14 [updated 2026 Jan 15]. 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 Feb 14 [updated 2026 Jan 15]. 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: 20301575 Free Books & Documents. Review.
GENETIC COUNSELING: FA is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA). Autosomal recessive FA: If both parents are known to be heterozygous for an …
GENETIC COUNSELING: FA is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-relate …
Friedreich Ataxia.
Bidichandani SI, Delatycki MB, Napierala M, Duquette A. Bidichandani SI, et al. 1998 Dec 18 [updated 2025 Jun 26]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 1998 Dec 18 [updated 2025 Jun 26]. 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: 20301458 Free Books & Documents. Review.
If cesarean section is required, epidural or spinal anesthesia is recommended rather than general anesthesia if possible. GENETIC COUNSELING: FRDA is inherited in an autosomal recessive manner. If both parents are heterozygous for a pathogenic variant in FXN, …
If cesarean section is required, epidural or spinal anesthesia is recommended rather than general anesthesia if possible. GENETIC COUNSELING …
Myotonia Congenita.
Dunø M, Vissing J. Dunø M, et al. 2005 Aug 3 [updated 2021 Feb 25]. 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 Aug 3 [updated 2021 Feb 25]. 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: 20301529 Free Books & Documents. Review.
GENETIC COUNSELING: Myotonia congenita is inherited in either an autosomal recessive (Becker disease) or an autosomal dominant (Thomsen disease) manner; the same pathogenic variant may be associated with both autosomal dominant and autosomal …
GENETIC COUNSELING: Myotonia congenita is inherited in either an autosomal recessive (Becker disease) or an autosoma …
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U. Sobacchi C, et al. 2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2007 Feb 12 [updated 2022 Jan 20]. 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: 20301306 Free Books & Documents. Review.
GENETIC COUNSELING: CLCN7-related osteopetrosis is inherited in an autosomal recessive or autosomal dominant manner: ARO is inherited in an autosomal recessive manner; about 40% of IAO is inherited in an autosomal …
GENETIC COUNSELING: CLCN7-related osteopetrosis is inherited in an autosomal recessive or autosomal dominant man …
Treacher Collins Syndrome.
Barbosa M, Jabs EW, Huston S. Barbosa M, et al. 2004 Jul 20 [updated 2024 Jun 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2004 Jul 20 [updated 2024 Jun 20]. 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: 20301704 Free Books & Documents. Review.
Autosomal recessive inheritance (biallelic pathogenic variants in POLR1C or POLR1D) accounts for a minority of TCS. ...Each child of an individual with autosomal dominant TCS has a 50% chance of inheriting the pathogenic variant. Autosomal …
Autosomal recessive inheritance (biallelic pathogenic variants in POLR1C or POLR1D) accounts for a minority of TCS. ... …
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% chan …
GENETIC COUNSELING: RNU4atac-opathy is inherited in an autosomal recessive manner. If both parents are known to be hete …
Weill-Marchesani Syndrome.
Marzin P, Cormier-Daire V, Tsilou E. Marzin P, et al. 2007 Nov 1 [updated 2020 Dec 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2007 Nov 1 [updated 2020 Dec 10]. 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: 20301293 Free Books & Documents. Review.
Agents/circumstances to avoid: Ophthalmic miotics and mydriatics because they can induce pupillary block; activities that increase risk of eye injury. GENETIC COUNSELING: Autosomal dominant inheritance: FBN1-related WMS is inherited in an autosomal dom …
Agents/circumstances to avoid: Ophthalmic miotics and mydriatics because they can induce pupillary block; activities that increase risk of e …
16,987 results
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