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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. Mak CCY, et al. Among authors: zackai e. Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Brain. 2020. PMID: 31834374 Free PMC article.
Nasal dimple as part of the 22q11.2 deletion syndrome.
Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet. 1997 Mar 31;69(3):290-2. Am J Med Genet. 1997. PMID: 9096759
Lateral meningocele syndrome: three new patients and review of the literature.
Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.
Imaging studies in a unique familial dysmyelinating disorder.
Gripp KW, Zimmerman RA, Wang ZJ, Rorke LB, Duhaime AC, Schut L, Molloy PT, Tucker SH, Zackai EH, Muenke M. Gripp KW, et al. Among authors: zackai eh. AJNR Am J Neuroradiol. 1998 Aug;19(7):1368-72. AJNR Am J Neuroradiol. 1998. PMID: 9726484 Free PMC article.
Polymicrogyria in chromosome 22 delection syndrome.
Bingham PM, Lynch D, McDonald-McGinn D, Zackai E. Bingham PM, et al. Among authors: zackai e. Neurology. 1998 Nov;51(5):1500-2. doi: 10.1212/wnl.51.5.1500. Neurology. 1998. PMID: 9818897
659 results