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Page 1
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. Among authors: ounap k. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. van Bon BW, et al. Among authors: ounap k. J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15. J Med Genet. 2009. PMID: 19372089 Free PMC article.
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P. Grotto S, et al. Among authors: ounap k. Eur J Med Genet. 2014 Apr;57(5):200-6. doi: 10.1016/j.ejmg.2013.12.012. Epub 2014 Jan 22. Eur J Med Genet. 2014. PMID: 24462886
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Among authors: ounap k. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study; Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: ounap k. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Bruun TUJ, et al. Among authors: ounap k. Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12. Metab Brain Dis. 2018. PMID: 29435807
202 results