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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: opitz jm. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Heterogeneity and minor anomalies.
Opitz JM. Opitz JM. Am J Med Genet. 2000 Apr 10;91(4):254-5. doi: 10.1002/(sici)1096-8628(20000410)91:4<254::aid-ajmg2>3.0.co;2-y. Am J Med Genet. 2000. PMID: 10766978 No abstract available.
Elements of morphology: general terms for congenital anomalies.
Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Hennekam RC, et al. Among authors: opitz jm. Am J Med Genet A. 2013 Nov;161A(11):2726-33. doi: 10.1002/ajmg.a.36249. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124000
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. Swoboda KJ, et al. Among authors: opitz jm. Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259288 Free PMC article.
ADAM "sequence" part II: hypothesis and speculation.
Opitz JM, Johnson DR, Gilbert-Barness EF. Opitz JM, et al. Am J Med Genet A. 2015 Mar;167A(3):478-503. doi: 10.1002/ajmg.a.36937. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604972 Review.
Remembered: F. Clarke Fraser.
Opitz JM. Opitz JM. Am J Med Genet A. 2015 Oct;167A(10):2229-30. doi: 10.1002/ajmg.a.37091. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900809 No abstract available.
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Among authors: opitz jm. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331
475 results