|
PubMed references for Elizabeth C Engle
|
|
|
Peer-reviewed articles
1. Drlica K, Engle EC, Manes SH. DNA Gyrase on the Bacterial Chromosome: Possibility of Two Levels of Action. Proc. Natl. Acad. Sci. 1980;77(11):6879-83.
2. Engle EC, Manes SH, Drlica K. Differential Effects of Antibiotics Inhibiting Gyrase. J. Bact. 1982;149(1):92-8.
3. Dangond F, Engle E, Yessayan L, Sawyer MH. Pre-eruptive Varicella Cerebellitis Confirmed by PCR. Pediatric Neurology 1993;9(6):491-3.
4. Engle EC, Kunkel LM, Specht LA, Beggs AH. Linkage mapping of a gene for Congenital Fibrosis of the Extraocular Muscles to the centromeric region of chromosome 12. Nature Genetics 1994;7:69-73.
5. Khurana TS, Engle EC, Benett RR, Silverman G, Selig S, Bruns GAP, Kunkel LM. (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Human Molecular Genetics 1994;3(5):841.
6. Engle EC, Marondel I, Houtman WA, deVries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH. Congenital Fibrosis of the Extraocular Muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. American Journal of Human Genetics 1995;57:1086-94.
7. Engle EC, Goumernov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH. Oculomotor Nerve and Muscle Abnormalities in Congenital Fibrosis of the Extraocular Muscles. Annals of Neurology 1997;41:314-25.
8. Engle EC, Castro AE, Macy ME, Knoll JHM, Beggs AH. A gene for isolated congenital ptosis maps to a 3 cM region within 1p32-p34.1. American Journal of Human Genetics 1997;60(5):1150-7.
9. Swoboda KJ, Engle EC, Scheindlin B, Anthony DC, Jones HR. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Nerve & Muscle 1998;21, 104-11.
10. Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC. Congenital fibrosis of the Extraocular Muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. American Journal of Human Genetics 1998;63(2):517-25.
11. Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFEOM3: a new extraocular fibrosis syndrome that maps to 16q24.2-q24.3. Investigative Ophthalmology & Visual Science 1999;40(8):1687-1694.
12. Traboulsi EI, Lee BA, Mousawi A, Khamis AR, Engle EC. Evidence of genetic heterogeneity in autosomal recessive Congenital Fibrosis of the Extraocular Muscles (CFEOM). The American Journal of Ophthalmology, 2000;129(5):658-662.
13. Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Archives of Ophthalmology, 2000;118(8):1090-7.
14. O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. BMC Genetics 2001, 2:3
15. Flaherty MP, Grattan-Smith P, Steinberg A, Jemieson R, Engle EC. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology, 2001;108(7):1313-1322.
16. Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC. Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2 (CFEOM2). Nature Genetics, 2001;29:315-320.
17. Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins MLZ, Morris L, Del Monte M, Magli A, de Berardinis T. CFEOM1, the classical form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genetics 2002, 3:3.
|
18. Mackey DA, Chan, W-M, Chan C, Gillies WE, Brooks AMV, O'Day J, Engle EC. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Human Genetics 2002, 110: 510-512.
19. Gottlob I, Jain S, Engle E. Elevation of one eye during tooth brushing. American Journal of Ophthalmology, 2002;134(3):459-60.
20. Iannaccone I, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Familial unilateral Brown syndrome. Ophthalmic Genetics, 2002;23(3):175-184.
21. Al-Baradie R, Yamada K, St. Hilaire C, Chan W-M, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro Syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. American Journal of Human Genetics, 2002 Nov;71(5):1195-9.
22. Uyama E, Yamada K, Kawano H, Chan W-M, Andrews C, Yoshioka M, Uchino M, Engle EC. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 (CFEOM1) associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscular Disorders, 2003, 13(6):472-478.
23. Pieh C, Goebel HH, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol. 2003 Jul;241(7):546-53.
24. Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan W-M, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI. A novel ARIX / PHOX2A mutation in an Iranian family with Congenital Fibrosis of Extraocular Muscles type 2 CFEOM2. American Journal of Ophthalmology, 2003;136(5):861-965.
25. Yamada K, Andrews C, Chan W-M, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Ravi Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics,2003;35:318-321.
26. Jen JC, Chan W-M, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo L, Ou J, Lin DDM, Salih MAM, Kansu T, Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger J, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human robo gene disrupt hindbrain axon pathway crossing and morphogenesis. Science, 2004;304:1509-1513, Published online 22 April 2004;10.1126/science.1096437.
|
27. Yamada K, Chan W-M, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney TZ, Öztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, de Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF, Engle EC. KIF21A mutations are a rare cause of congenital fibrosis of the extraocular muscles type 3. Investigative Ophthalmology & Visual Science,2004;45:2218-2223.
28. Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Investigative Ophthalmology & Visual Science, 2005 Feb;46(2):530-9.
29. Yamada K, Hunter DG, Andrews C, Engle EC. A novel KIF21A mutation in a patient with CFEOM1 and Marcus Gunn jaw winking. Arch Ophthalmol 2005;123:1254-1259.
30. Tischfield MA, Bosley TM, Salih MAM, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan W-M, Andrews C, Erickson RP, Engle EC. Human HOXA1 syndrome disrupts brainstem, inner ear, cardiovascular, and cognitive development. Nat Genet. 2005 Sep 11; [Epub ahead of print]
31. Chan W-M, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC. Horizontal Gaze Palsy with Progressive Scoliosis can result from compound heterozygous mutations in ROBO3. Journal of Medical Genetics, in press.
Proceedings of Meetings
1. Engle E. A genetic approach to congenital extraocular muscle disorders. J Child Neurology 1999;14(1): 34-37.
2. Engle EC Applications of molecular genetics to understanding congenital ocular motility disorders. Annals of the New York Academy of Science, 2002;956:55-63.
3. Engle EC. The molecular basis of the congenital fibrosis syndromes. In: Eds B Lorenz and J.H. Simonsz, Proceedings of the 8th Annual Meeting of the Bielschowsky Gesellschaft, Regensburt, Germany, July 6th to 8th 2001. Strabismus, 2002;10(2):125-128.
4. NJ Gutowski, TM Bosley, EC Engle. The Congenital Cranial Dysinnervation Disorders (CCDDs). Report of the 110th ENMC International Workshop, Naarden, The Netherlands, October 25-27, 2002. Neuromuscular Disorders, 2003 Sep: 13(7-8):573-8.
Reviews, Chapters, and Editorials
1. Engle EC, Holtzman, D. Benign Intracranial Hypertension. In: Burg FD, Ingelfinger JR, Wald ER, editors. Gellis and Kagan's Current Pediatric Therapy 14. Philadelphia: W.B. Saunders; 1993. p. 67-9.
2. Engle EC, Holtzman, D. Spasmus Nutans. In: Burg FD, Ingelfinger JR, Wald ER, editors. Gellis and Kagan's Current Pediatric Therapy 14. Philadelphia: W.B. Saunders; 1993. p. 91-2.
3. A 29-month-old girl with worsening ataxia, nystagmus, and subsequent opsoclonus and myoclonus [Case record 27-1995 of the Massachusetts General Hospital}. New England Journal of Medicine 1995;333(9):579-586.
4. Engle EC, Holtzman, D. Benign Intracranial Hypertension. In: Burg FD, Ingelfinger JR, Wald ER, editors. Gellis and Kagan's Current Pediatric Therapy 15. Philadelphia: W.B. Saunders; 1996. p. 109-10.
5. Engle EC. The genetics of strabismus: Duane, Moebius, and Fibrosis syndromes. In: Traboulsi EI, editor. Genetic diseases of the eye: a textbook and atlas. New York: Oxford University Press; 1998. p. 477-512.
6. Shivaram SM, Engle EC, Petersen RA, Robb RM. Congenital Fibrosis Syndromes. Int Ophthalmol Clin. 2001 Fall;41(4):105-13.
7. Engle EC, Leigh RJ. Genes, brainstem development, and eye movements. Neurology, 2002, 13;59(3):304-5.
8. Ryan MM, Stasheff SF, Engle EC. Disorders of the ocular motor cranial nerves and extraocular muscles. In Neuromuscular Disease of Infancy and Childhood: A Clinician's Approach. Jones RH, De Vivo D, Darras BT (eds.). Butterworth-Heinemann, Boston, 2002, 1075-1126.
|
9. Ryan MM, Engle EC, Acute ataxia in childhood. Journal of Child Neurology, 2003:18(5):309-16.
10. Andrews CV, Yamada K, Engle EC. Congenital Fibrosis of the Extraocular Muscles. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004. April 2004; Available at http://www.genetests.org.
11. Traboulsi E, Engle E. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genet. 2004 Dec;25(4):237-9.
Abstracts (only those containing data not yet published in complete form)
1. Sardi MPR-V, Engle EC. Expression pattern of human ARIX, a transcription factor mutated in CFEOM2 and essential to oculomotor and trochlear motor neuron development in mice. Journal of the Neurological Sciences 2002;199(suppl. 1):S110.
2. Demer JL, Ortube MC, Karim S, Andrews C, Engle EC. Magnetic Resonance Imaging (MRI) Demonstrates the Endophenotype of Duane Retraction Syndrome (DRS) Linked to the DURS2 Locus. ARVO Annual Meeting, 2004.
3. Engle EC, Andrews C, .Law K, Chan W-M, Demer JL. Clinical And Genetic Analysis Of Two Duane Syndrome Pedigrees That Map To The Durs2 Locus. ARVO Annual Meeting, 2004.
4. Sicotte NL, Plaitakis A, Salamon G, Amoiridis G, tzagournissakis M, Drain A, Shattuck DW, Engle EC, Alger JA, Baloh RW, Jen JC. Brainstem axon crossing defects in Horizontal Gaze Palsy with Progressive Scoliosis assessed with diffusion tensor imaging and neurophysiologic testing. Submitted to 57th annual meeting of the American Academy of Neurology, 2005.
5. Demer JL, Engle EC. Magnetic resonance imaging (MRI) demonstrates the endophenotype of Duanes Radial Ray (Okihiro) Syndrome (DRRS). ARVO Annual Meeting, 2005.
6. Baris H, Chan W-M, Andrews C, Ranells J, Pal T, Engle EC. Pursuing the identification of the DURS1 gene. Poster, ASHG meeting, 2005.
7. Chan, W-M, Andrews C, Robinson DO, Magli A, de Berardiis T, Engle EC. Linkage and mutation analysis of the ZFH4 gene in patients with congenital ptosis. Poster, ASHG meeting, 2005.
8. Tischfield MA, Bosley TM, Salih MAM, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan W-M, Andrews C, Erickson RP, Engle EC. Human HOXA1 syndrome disrupts brainstem, inner ear, cardiovascular, and cognitive development. Chosen as Presidential Plenary talk, ASHG meeting, 2005.
|
|
|
|
Back to Lab Members
|
|
|
|
