GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997...
2 KB (190 words) - 18:28, 19 July 2023
FG syndrome (section MED12 gene)
PMC 1049945. PMID 3572995. Lyons, M (1993). "MED12-Related Disorders". GeneReviews. University of Washington, Seattle. PMID 20301719. Retrieved 6 September...
9 KB (826 words) - 13:37, 20 July 2024
Spectrum Disorder". GeneReviews. PMID 20301686. Dore; et al. (January 1987). "Cleidocranial Dysostosis and Syringomyelia Review of the Literature and...
19 KB (1,675 words) - 04:56, 19 October 2024
Everman DB, Mirzaa GM, Pagon RA, Wallace SE (eds.). "Angelman Syndrome". GeneReviews. Seattle: University of Washington, Seattle. PMID 20301323. Retrieved...
39 KB (4,129 words) - 06:22, 19 October 2024
Nikki; Mefford, Heather C.; Smith, Richard J.H.; Stephens, Karen (eds.). GeneReviews. University of Washington, Seattle. PMID 20301673 – via PubMed. "Questions...
19 KB (1,899 words) - 06:05, 20 June 2024
PMID 21922596. "MATN3 review". "SLC26A2 solute carrier family 26". Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA):...
23 KB (2,399 words) - 04:17, 17 December 2023
Haldeman-Englert CR (October 20, 1998). "FGFR-Related Craniosynostosis Syndromes". GeneReviews. PMID 20301628. Rodriguez, Eduardo (2018). Plastic Surgery: Volume 3:...
12 KB (1,266 words) - 02:32, 23 September 2024
Patient. Retrieved 12 January 2017. GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder...
27 KB (2,977 words) - 02:00, 21 October 2024
Maple syrup urine disease (section Gene therapy)
Gripp KW, Mirzaa GM, Amemiya A (eds.). "Maple Syrup Urine Disease". GeneReviews® [Internet]. University of Washington. PMID 20301495. NBK1319. Lavin...
45 KB (5,486 words) - 01:50, 9 September 2024
"Holoprosencephaly Overview". In Adam MP, Ardinger HH, Pagon RA, Wallace SE (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301702. Retrieved...
19 KB (1,958 words) - 17:43, 17 October 2024
[Summary of Molecular Genetic Testing Used in Nemaline Myopathy]. - GeneReviews® - NCBI Bookshelf". Retrieved 2016-04-25. Ryan MM, Ilkovski B, Strickland...
30 KB (3,561 words) - 07:21, 13 May 2024
Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle. PMID 20301295...
12 KB (1,176 words) - 12:51, 2 September 2024
"McKusick-Kaufman Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301675, retrieved 2018-11-07 GeneReview/NIH/UW entry on McKusick–Kaufman...
5 KB (365 words) - 14:47, 5 October 2023
Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301693. Chinnery...
18 KB (1,926 words) - 14:54, 1 October 2024
Stephen; Crombez, Eric A. (1 January 1993). "Arginase Deficiency". GeneReviews. PMID 20301338. Retrieved 20 November 2016.update 2014 "Arginase Deficiency:...
7 KB (557 words) - 15:18, 18 October 2024
Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews. Seattle: University of Washington. PMID 20301545. Rohrer J, Ryan B,...
56 KB (5,723 words) - 18:39, 18 October 2024
Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-18...
41 KB (4,206 words) - 02:06, 14 September 2024
N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome". GeneReviews. PMID 20301427. Reference, Genetics Home (December 2014). "Williams syndrome"...
52 KB (5,760 words) - 10:31, 21 October 2024
ISSN 2472-1727. PMC 7203968. PMID 31580536. GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview GeneReviews/NCBI/NIH/UW entry on Microphthalmia...
25 KB (2,173 words) - 09:44, 18 March 2024
; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Krabbe Disease", GeneReviews®, University of Washington, Seattle, PMID 20301416, retrieved 2019-11-25...
23 KB (2,390 words) - 19:54, 23 August 2024
Mefford HC, Stephens K, Amemiya A, Ledbetter N (2012). "Achondroplasia". GeneReviews. PMID 20301331. White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell...
47 KB (4,410 words) - 00:18, 19 October 2024
Cynthia R; Fong, Chin-To; Smith, Richard JH; Stephens, Karen (eds.). GeneReviews. Seattle: University of Washington. PMID 20301443. Riegert-Johnson D...
16 KB (1,611 words) - 19:55, 23 August 2024
Joyce (January 17, 2013). "Familial Hemophagocytic Lymphohistiocytosis". GeneReviews. PMID 20301617. NBK1444. Trapani JA, Thia KY, Andrews M, et al. (April...
29 KB (3,306 words) - 15:31, 12 October 2024
gonadotropins". Pediatrics. 12 (4): 368–76. doi:10.1542/peds.12.4.368. PMID 13099907. S2CID 22644845. GeneReviews/NCBI/NIH/UW entry on Russell-Silver Syndrome...
15 KB (1,650 words) - 16:32, 20 August 2024
Galanello, Renzo; Cao, Antonio (1 January 1993). "Alpha-Thalassemia". GeneReviews. PMID 20301608. Archived from the original on 4 September 2016. Retrieved...
21 KB (1,588 words) - 22:52, 19 August 2024
"Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301697, retrieved...
13 KB (1,360 words) - 04:03, 1 September 2024
Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. University of Washington, Seattle. PMID 25577942. Synofzik M, Ilg W...
37 KB (3,004 words) - 05:19, 18 October 2024
"Loeys-Dietz Syndrome". In Adam, MP; Ardinger, HH; Pagon, RA (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301312. Bertoli-Avella...
12 KB (1,293 words) - 16:18, 11 October 2024
Lissencephaly at NINDS GeneReviews/NCBI/NIH/UW entry on DCX-Related Disorders OMIM entries on DCX-Related Disorders GeneReview/NIH/UW entry on LIS1 Lissencephaly...
24 KB (2,536 words) - 17:29, 27 August 2024
by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive...
9 KB (953 words) - 12:53, 4 September 2024