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Maximilian Muenke, M.D.
Selected Publications
Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massague J., Muenke M., Elledge S.J. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet, 25:205-208. 2000. [PubMed]
Bamford R., Roessler E., Burdine R.D., Saplakoglu U., dela Cruz J., Splitt M., Goodship J.A., Towbin J., Bowers P., Ferrero G.B., Marino B., Schier A.F., Shen M.M., Muenke M., Casey B.M. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet, 26:365-369, & 501. 2000. [PubMed]
Ming, J.E., Kaupas, M.E., Roessler, E., Brunner, H.G., Golabi, M., Tekin, M., Stratton, R.F., Sujansky, E., Bale, S.J., Muenke, M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with oloprosencephaly. Hum. Genet, 110:297-301. 2002. [PubMed]
Goldmuntz, E., Bamford, R., Karkera, J.D., Dela Cruz, J., Roessler, E., Muenke, M.: CFC1 mutations in patients with transposition of the great arteries and double outlet right ventricle. Am. J. Hum. Genet, 70:776-780. 2002. [PubMed]
Heussler, H.S., Suri, M., Young, I.D., Muenke, M. Extreme variability of expression in a family with a Sonic Hedgehog mutation: Attention deficit in a family with holoprosencephaly. Arch. Dis. Child, 86:293-296. 2002. [PubMed]
de la Cruz, J., Bamford, R.N., Burdine, R.D., Roessler, E., A.J. Barkovich, Donnai, D., Schier, A.F., Muenke, M. A loss of function mutations in the CFC domain of TDGF-1 is associated with human forebrain defects. Hum. Genet, 110:422-428. 2002. [PubMed]
Arcos-Burgos, M., Castellanos, F.X., Lopera, F., Pineda, D., Palacio, G., Berg, K., Bailey-Wilson J., Muenke, M. Attention-deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees. Clin. Genet, 61:335-343. 2002. [PubMed]
Ming, J.E., Muenke, M. Multiple hits during early embryonic
development: digenic diseases and holoprosencephaly. Am J. Hum. Genet,
71:1017-1032. 2002. [Full Text]
Roessler, E., Muenke, M. How a Hedgehog might see holoprosencephaly. Hum. Mol. Genet. 12:R15-R25. 2003. [PubMed]
Edison, R., Muenke, M. The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol. Congenital Anomalies, 43:1-21. 2003. [PubMed]
Roessler, E., Du, Y., Mullor, J.L., Casas, E., Allen, W.P., Gillessen-Kaesbach, G., Roeder, E.R., Ming, J.E., Ruiz i Altaba, A., Muenke, M. Loss-of-function mutations in the human GLI2 gene cause pituitary anomalies and holoprosencephaly-like features. Proc. Natl. Acad. Sci.USA, 100:13424-13429. 2003. [PubMed]
Arcos-Burgos, M., Castellanos, F.X., Konecki, D., Lopera, F., Pineda, D., Palacio, J.D., Rapoport, J.L., Berg, K., Bailey-Wilson J., Muenke, M. Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate. Mol. Psych, 9:252-259. 2004. [PubMed]
Acosta, M.T., Arcos-Burgos, M., Muenke, M. Attention
deficit/hyperactivity disorder (ADHD): complex phenotype, simple
genotype? Genetics in Medicine, 6:1-15. 2004. [PubMed]
Edison, R.J., Muenke, M. Central nervous system and limb anomalies in
case reports of first trimester statin exposures. New Engl. J. Med,
350:1579-1582. 2004. [Full Text]
Edison R.J., Muenke M. Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet, 131A:287?298. 2004. [PubMed]
Arcos-Burgos, M., Castellanos, F.X., Lopera, F., Pineda, D., Palacio,
J.D., Palacio, L.G., Rapoport, J.L., Berg, K., Bailey-Wilson, J.,
Muenke, M. ADHD in a population isolate: linkage to loci at 4a13.2,
5q33.3, 11q22, and 17p11. Am. J. Hum. Genet, 75:998-1014. 2004. [PubMed]
Palacio, J.D., Castellanos, F.X., Pineda, D.A., Lopera F., Arcos-Burgos
M., Quiroz, Y.T., Henao, G.C., Puerta, Y.C., Ramirez, D.L., Rapoport,
J.L., Bailey-Wilson, J., Berg, K., Muenke, M. Attention
deficit/hyperactivity disorder and co-morbidities in 18 "Paisa"
Colombian multigenerational families. J. Am. Acad. Child Adolesc.
Psych, 43(12):1506-15. 2004. [PubMed]
Roessler, E., Ermilov, A.N., Grange, D.K., Wang, A., Grachtchouk, M., Dlugosz, A.A., Muenke, M.: A previously unidentified amino terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum. Mol. Genet, 14:2181-2188. 2005. [PubMed]
Bendavid, C., Haddad, B.R., Griffin, A., Huizing, M., Gicquel, I., Dubourg, C., Cavalli, C.R., Long, R., Ouspenskaia, M., Odent, S., Lacbawan, F., David, V., Muenke, M.: Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with normal karyotype. J. Med. Genet, 43(6):496-500. 2006. [PubMed]
Jeong, Y., El-Jaick, K., Roessler, E., Muenke, M., Epstein, D.J. A functional screen for Sonic hedgehog regulatory elements across a 1 MB interval identifies long-range ventral forebrain enhancers. Development, 133:761-772. 2006. [PubMed]
Russell, H.F., Wallis, D., Mazzocco, M.M., Moshang, T., Zackai, E., Zinn, A., Ross, J.L., Muenke, M.: Increased prevalence of attention-deficit/hyperactivity disorder (ADHD) in girls with Turner syndrome with no evidence of an imprinting effect for cognitive performance or ADHD. Ped. Psych, (9):945-55. 2006. [PubMed]
Jain, M., Palacio, L.G., Castellanos, F.X., Palacio, J.D., Pineda, D., Restrepo, M.I., Muņoz, J.F., Lopera, F., Wallis, D., Berg, K., Bailey-Wilson, J.E., Arcos-Burgos, M., Muenke, M.: Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol. Psychiatr, 61:1329-1339. 2007. [PubMed]
El-Jaick, K.B., Powers, S.E., Bartholin, L., Myers, K.R., Hahn, J., Orioli, I.M., Ouspenskaia, M., Lacbawan, F., Roessler, E., Wotton, D., Muenke, M.: Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol. Genet. Metabolism, 90:97-111. 2007. [PubMed]
Haas, D., Morgenthaler, J., Lacbawan, F., Long, R., Runz, H., Garbade, S.F., Zschocke, J., Kelley, R.I., Okun, J.G., Hoffmann, G.F., Muenke, M. Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. J. Med. Genet, 44:298-305. 2007. [PubMed]
Edison, R., Berg, K., Kelley, R.I., Rotimi, C., Remaley, A., Stevenson, R.E., Muenke, M. Adverse birth outcome among mothers with low serum cholesterol. Pediatrics, 120:723-733. 2007. [PubMed]
Doherty, E.S., Lacbawan, F., Hadley, D.W., Brewer, C., Zalewski, C., Kim, H.J., Glass, P., Solomon, B., Rosenbaum, K., Domingo, D.L., Hart, T.C., Brooks, B., Immken, L., Lowry, R.B., Kimonis, V., Shanske, A.L., Knightly, C., McDonald-McGinn, D., Zackai, E.H., Muenke, M.: Muenke syndrome: expansion of the phenotype and review of the literature. Am. J. Med. Genet, 143(24):3204-15. 2007. [PubMed]
Karkera, J.D., Lee, J.S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M.V., Mez, J., Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J., Baxevanis, A.D., Schier, A.F., Muenke, M.: Loss-of-function mutations in the Growth Differentiation Factor-1 (GDF1) are associated with congenital heart defects in humans. Am. J. Hum. Genet, 81(5):987-94. 2007. [PubMed]
Book Chapters
Muenke M, Wilkie A. Craniosynostosis syndrome. Chapter 245, Volume 4. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Companies, Inc., Eighth Edition, pp. 6117-6146. 2001.
Muenke M, Beachy PA. Holoprosencephaly. Chapter 250, Volume 4. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Companies, Inc., Eighth Edition, pp. 6203-6230. 2001.
Gropman, A.S., Muenke, M.: Holoprosencephaly. In: Cassidy, S.B.,
Allanson, J.E. (eds.) Management of Genetic Syndromes. Wiley-Liss,
Inc. pp.279-296. 2005.
Last Reviewed: October 7, 2008
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