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Page 1
Association between conformational mutations in neuroserpin and onset and severity of dementia.
Davis RL, Shrimpton AE, Carrell RW, Lomas DA, Gerhard L, Baumann B, Lawrence DA, Yepes M, Kim TS, Ghetti B, Piccardo P, Takao M, Lacbawan F, Muenke M, Sifers RN, Bradshaw CB, Kent PF, Collins GH, Larocca D, Holohan PD. Davis RL, et al. Among authors: lacbawan f. Lancet. 2002 Jun 29;359(9325):2242-7. doi: 10.1016/S0140-6736(02)09293-0. Lancet. 2002. PMID: 12103288
Familial dementia caused by polymerization of mutant neuroserpin.
Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, Sonderegger P, Kinter J, Becker LM, Lacbawan F, Krasnewich D, Muenke M, Lawrence DA, Yerby MS, Shaw CM, Gooptu B, Elliott PR, Finch JT, Carrell RW, Lomas DA. Davis RL, et al. Among authors: lacbawan f. Nature. 1999 Sep 23;401(6751):376-9. doi: 10.1038/43894. Nature. 1999. PMID: 10517635
Familial encephalopathy with neuroserpin inclusion bodies.
Davis RL, Holohan PD, Shrimpton AE, Tatum AH, Daucher J, Collins GH, Todd R, Bradshaw C, Kent P, Feiglin D, Rosenbaum A, Yerby MS, Shaw CM, Lacbawan F, Lawrence DA. Davis RL, et al. Among authors: lacbawan f. Am J Pathol. 1999 Dec;155(6):1901-13. doi: 10.1016/S0002-9440(10)65510-1. Am J Pathol. 1999. PMID: 10595921 Free PMC article.
Central nervous system embryogenesis and its failures.
Lacbawan FL, Muenke M. Lacbawan FL, et al. Pediatr Dev Pathol. 2002 Sep-Oct;5(5):425-47. doi: 10.1007/s10024-002-0003-3. Epub 2002 Sep 4. Pediatr Dev Pathol. 2002. PMID: 12202995 Review.
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Domené S, et al. Among authors: lacbawan f. Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12. Hum Mol Genet. 2008. PMID: 18791198 Free PMC article.
Additional EFNB1 mutations in craniofrontonasal syndrome.
Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. Wallis D, et al. Among authors: lacbawan f. Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388. Am J Med Genet A. 2008. PMID: 18627045 Free PMC article. No abstract available.
Functional analysis of mutations in TGIF associated with holoprosencephaly.
El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M. El-Jaick KB, et al. Among authors: lacbawan f. Mol Genet Metab. 2007 Jan;90(1):97-111. doi: 10.1016/j.ymgme.2006.07.011. Epub 2006 Sep 7. Mol Genet Metab. 2007. PMID: 16962354 Free PMC article. Review.
51 results