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
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 (2,974 words) - 06:01, 8 August 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) - 18:13, 12 July 2024
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
Everman DB, Mirzaa GM, Pagon RA, Wallace SE (eds.). "Angelman Syndrome". GeneReviews. Seattle: University of Washington, Seattle. PMID 20301323. Retrieved...
37 KB (3,950 words) - 06:44, 14 August 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
N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome". GeneReviews. PMID 20301427. Reference, Genetics Home (December 2014). "Williams syndrome"...
52 KB (5,772 words) - 04:08, 9 August 2024
Spectrum Disorder". GeneReviews. PMID 20301686. Dore; et al. (January 1987). "Cleidocranial Dysostosis and Syringomyelia Review of the Literature and...
19 KB (1,682 words) - 00:33, 15 August 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 (1,953 words) - 18:36, 30 July 2024
Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301693. Chinnery...
18 KB (1,929 words) - 14:57, 22 April 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) - 23:49, 7 July 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) - 20:14, 16 May 2024
GeneReviews Pulst, Stefan-M (1 March 2012). Spinocerebellar Ataxia Type 13. University of Washington, Seattle. PMID 20301404. NBK1225. In GeneReviews...
37 KB (2,946 words) - 15:44, 7 July 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) - 16:02, 11 August 2024
Joyce (January 17, 2013). "Familial Hemophagocytic Lymphohistiocytosis". GeneReviews. PMID 20301617. NBK1444. Trapani JA, Thia KY, Andrews M, et al. (April...
29 KB (3,295 words) - 09:07, 13 June 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) - 13:42, 14 August 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,...
55 KB (5,644 words) - 00:07, 14 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 (1,581 words) - 17:11, 28 April 2024
Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Campomelic Dysplasia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301724, retrieved...
72 KB (7,749 words) - 01:41, 15 August 2024
"Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301697, retrieved...
13 KB (1,361 words) - 20:21, 16 August 2024
Roberta A.; Wallace, Stephanie E. (eds.), "Acute Intermittent Porphyria", GeneReviews®, University of Washington, Seattle, PMID 20301372, retrieved 2018-11-01...
25 KB (2,873 words) - 22:35, 31 March 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) - 12:56, 25 July 2024
Ghayda M.; Pagon, Roberta A. (eds.), "Androgen Insensitivity Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301602, retrieved...
17 KB (1,754 words) - 15:56, 15 August 2024
Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Kabuki Syndrome". GeneReviews [Internet]. PMID 21882399. Niikawa N, Matsuura N, Fukushima Y, Ohsawa...
33 KB (3,370 words) - 16:44, 31 July 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 (1,617 words) - 10:21, 15 July 2024
Stephanie E.; Bean, Lora JH; Gripp, Karen W.; Amemiya, Anne (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301351 – via PubMed. "Alexander...
14 KB (1,455 words) - 13:16, 18 May 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 (1,308 words) - 10:41, 12 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 (4,411 words) - 11:04, 24 July 2024
PMID 19962959. "Sternberg D et al. (2009) Hypokalemic Periodic Paralysis, in GeneReviews " "Segal MM, Jurkat-Rott K, Levitt J, Lehmann-Horn F, Hypokalemic periodic...
17 KB (2,108 words) - 02:19, 22 July 2024