Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager
Gripp, K.W., Baker, L., Kandula, V., Piatt, J., Walter, A., Chen, Z., Messiaen, L.
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
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Journal Article
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype
Koenighofer, M., Hung, C. Y., McCauley, J. L., Dallman, J., Back, E. J., Mihalek, I., Gripp, K. W., Sol-Church, K., Rusconi, P., Zhang, Z., Shi, G-X., Andres, D. A., Bodamer, O. A.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Journal Article
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy
Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas‐Rothschild, A.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Journal Article
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
Sheen, V L, Jansen, A, Chen, M H, Parrini, E, Morgan, T, Ravenscroft, R, Ganesh, V, Underwood, T, Wiley, J, Leventer, R, Vaid, R R, Ruiz, D E, Hutchins, G M, Menasha, J, Willner, J, Geng, Y, Gripp, K W, Nicholson, L, Berry-Kravis, E, Bodell, A, Apse, K, Hill, R S, Dubeau, F, Andermann, F, Barkovich, J, Andermann, E, Shugart, Y Y, Thomas, P, Viri, M, Veggiotti, P, Robertson, S, Guerrini, R, Walsh, C A
Published in Neurology (25.01.2005)
Published in Neurology (25.01.2005)
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Journal Article
The adult phenotype in Costello syndrome
White, Susan M., Graham Jr, J.M., Kerr, B., Gripp, K., Weksberg, R., Cytrynbaum, C., Reeder, J.L., Stewart, F.J., Edwards, M., Wilson, M., Bankier, A.
Published in American journal of medical genetics. Part A (15.07.2005)
Published in American journal of medical genetics. Part A (15.07.2005)
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Journal Article
Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein
Hinek, Aleksander, Smith, Adam C., Cutiongco, Eva Maria, Callahan, John W., Gripp, Karen W., Weksberg, Rosanna
Published in American journal of human genetics (01.03.2000)
Published in American journal of human genetics (01.03.2000)
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Journal Article
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
Elledge, Stephen J, Ades, Lesley, Roessler, Erich, Massagué, Joan, Wotton, David, Edwards, Michael C, Meinecke, Peter, Gripp, Karen W, Richieri-Costa, Antonio, Zackai, Elaine H, Muenke, Maximilian
Published in Nature genetics (01.06.2000)
Published in Nature genetics (01.06.2000)
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Journal Article
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures
Mirzaa, G, Dodge, N N, Glass, I, Day, C, Gripp, K, Nicholson, L, Straub, V, Voit, T, Dobyns, W B
Published in Neuropediatrics (01.12.2004)
Published in Neuropediatrics (01.12.2004)
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Journal Article
Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3
Gripp, Karen W., McDonald-McGinn, Donna M., Gaudenz, Karin, Whitaker, Linton A., Bartlett, Scott P., Glat, Paul M., Cassileth, Lisa B., Mayro, Rosario, Zackai, Elaine H., Muenke, Maximilian
Published in The Journal of pediatrics (01.04.1998)
Published in The Journal of pediatrics (01.04.1998)
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Journal Article
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J
Published in American journal of human genetics (01.03.1997)
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Published in American journal of human genetics (01.03.1997)
Journal Article
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report
Cassileth, L B, Bartlett, S P, Glat, P M, Gripp, K W, Muenke, M, Zackai, E H, Whitaker, L A
Published in Plastic and reconstructive surgery (1963) (01.12.2001)
Published in Plastic and reconstructive surgery (1963) (01.12.2001)
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Journal Article
Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128-135, 2005)
White, Susaan M., Graham Jr, J.M., Kerr, B., Gripp, K., Weksberg, R., Cytrynbaum, C., Reeder, J.L., Stewart, F.J., Edwards, M., Wilson, M., Bankier, A.
Published in American journal of medical genetics. Part A (15.11.2005)
Published in American journal of medical genetics. Part A (15.11.2005)
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Journal Article
Observation of a parental inversion variant in a rare williams-beuren syndrome family with two affected children
SCHERER, Stephen W, GRIPP, Karen W, LUCENA, Jaume, NICHOLSON, Linda, BONNEFONT, Jean-Paul, PEREZ-JURADO, Luis A, OSBORNE, Lucy R
Published in Human genetics (01.08.2005)
Published in Human genetics (01.08.2005)
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Journal Article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Web Resource
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
Published in American journal of neuroradiology : AJNR (01.08.1998)
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Published in American journal of neuroradiology : AJNR (01.08.1998)
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