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.
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.
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J.
Parkinsonism Relat Disord. 2019 Oct;67:74-89. doi: 10.1016/j.parkreldis.2019.06.025. Epub 2019 Jun 30.
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.
Centronuclear myopathies.
Romero NB, Bitoun M.
Semin Pediatr Neurol. 2011 Dec;18(4):250-6. doi: 10.1016/j.spen.2011.10.006.
X-linked mental retardation.
Turner G, Turner B.
J Med Genet. 1974 Jun;11(2):109-13. doi: 10.1136/jmg.11.2.109.
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A, Cammarata G, Tremolada G, Manfredini E, Bianchi Marzoli S, Di Blasio AM.
Genes (Basel). 2024 Jun 12;15(6):766. doi: 10.3390/genes15060766.
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.
