NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE.
Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4.
X-linked mental retardation.
Turner G, Turner B.
J Med Genet. 1974 Jun;11(2):109-13. doi: 10.1136/jmg.11.2.109.
X-linked Dyggve-Melchior-Clausen syndrome.
Yunis E, Fontalvo J, Quintero L.
Clin Genet. 1980 Oct;18(4):284-90. doi: 10.1111/j.1399-0004.1980.tb00887.x.
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.
N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.
Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H, Huang S, Ma Y, Yang J, Chen Y, Wang G, Han M, Kang D, Zhang X, Dai P, Yuan Y.
Orphanet J Rare Dis. 2024 Sep 13;19(1):342. doi: 10.1186/s13023-024-03338-z.
X-linked congenital panhypopituitarism.
Schimke RN, Spaulding JJ, Hollowell JG.
Birth Defects Orig Artic Ser. 1971 May;7(6):21-3.
X-linked scapuloperoneal syndrome.
Thomas PK, Calne DB, Elliott CF.
J Neurol Neurosurg Psychiatry. 1972 Apr;35(2):208-15. doi: 10.1136/jnnp.35.2.208.
X-linked dominant ichthyosis.
Happle R.
Clin Genet. 1979 Mar;15(3):239-40. doi: 10.1111/j.1399-0004.1979.tb00973.x.
Centronuclear myopathies.
Romero NB, Bitoun M.
Semin Pediatr Neurol. 2011 Dec;18(4):250-6. doi: 10.1016/j.spen.2011.10.006.
