Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 1 |
2013 | 1 |
2015 | 1 |
2019 | 4 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 617362
7 results
Results by year
Filters applied: . Clear all
Page 1
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
J Endocr Soc. 2019 Oct 10;3(12):2341-2360. doi: 10.1210/js.2019-00306. eCollection 2019 Dec 1.
J Endocr Soc. 2019.
PMID: 31745530
Free PMC article.
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A.
McElreavey K, et al.
Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.
Genet Med. 2020.
PMID: 31337883
Free PMC article.
Item in Clipboard
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
da Silva TE, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyan H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AAL, Elias FM, Mitchell R, Costa EMF, Mendonca BB, Domenice S.
da Silva TE, et al.
J Clin Endocrinol Metab. 2019 Dec 1;104(12):5923-5934. doi: 10.1210/jc.2019-00984.
J Clin Endocrinol Metab. 2019.
PMID: 31287541
Item in Clipboard
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.
Paine I, et al.
Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.
Am J Hum Genet. 2019.
PMID: 31256877
Free PMC article.
Item in Clipboard
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR.
Karaca E, et al.
Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.
Neuron. 2015.
PMID: 26539891
Free PMC article.
Item in Clipboard
Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.
Hirata H, Ogino K, Yamada K, Leacock S, Harvey RJ.
Hirata H, et al.
J Neurosci. 2013 Sep 11;33(37):14638-44. doi: 10.1523/JNEUROSCI.1157-13.2013.
J Neurosci. 2013.
PMID: 24027265
Free PMC article.
Item in Clipboard
Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O.
Nagase T, et al.
DNA Res. 2000 Apr 28;7(2):143-50. doi: 10.1093/dnares/7.2.143.
DNA Res. 2000.
PMID: 10819331
Free article.
Item in Clipboard
Cite
Cite