Items where Subject is "diseases & disorders > congenital hereditary genetic diseases > mental retardation"

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Number of items at this level: 29.

A

Alpatov, R., Lesch, B. J., Nakamoto-Kinoshita, M., Blanco, A., Chen, S., Stutzer, A., Armache, K. J., Simon, M. D., Xu, C., Ali, M., Murn, J., Prisic, S., Kutateladze, T. G., Vakoc, C. R., Min, J., Kingston, R. E., Fischle, W., Warren, S. T., Page, D. C., Shi, Y. (2014) A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response. Cell, 157 (4). pp. 869-81. ISSN 0092-8674

B

Bolduc, F. V., Tully, T. (2009) Fruit flies and intellectual disability. Fly, 3 (1). pp. 91-104. ISSN 1933-6934

Bourtchouladze, R., Lidge, R., Catapano, R., Stanley, J., Gossweiler, S., Romashko, D., Scott, R., Tully, T. (2003) A mouse model of Rubinstein-Taybi syndrome: Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Proceedings of the National Academy of Sciences of the United States of America, 100 (18). pp. 10518-10522. ISSN 0027-8424

D

Dorfel, M. J., Fang, H., Crain, J., Klingener, M., Weiser, J., Lyon, G. J. (2017) Proteomic and genomic characterization of a yeast model for Ogden syndrome. Yeast, 34 (1). pp. 19-37. ISSN 1097-0061 (Electronic)0749-503X (Linking)

G

Govek, E. E., Newey, S., Van Aelst, L. (2004) Knockdown of the X-linked mental retardation protein, oligophrenin-1, affects dendritic spine morphology. Faseb Journal, 18 (8). C310-C310. ISSN 0892-6638

Govek, E. E., Newey, S. E., Akerman, C. J., Cross, J. R., Van der Veken, L., Van Aelst, L. (2004) The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nat Neurosci, 7 (4). pp. 364-72. ISSN 1097-6256 (Print)

H

Harada, N., Hatchwell, E., Okamoto, N., Tsukahara, M., Kurosawa, K., Kawame, H., Kondoh, T., Ohashi, H., Tsukino, R., Kondoh, Y., Shimokawa, O., Ida, T., Nagai, T., Fukushima, Y., Yoshiura, K., Niikawa, N., Matsumoto, N. (2004) Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. Journal of Medical Genetics, 41 (2). pp. 130-136. ISSN 1468-6244

L

Lyon, G. J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: 10th International Meeting on Copy Variants and Genes in Intellectual Disability and Autism, Troina, Italy. (Unpublished)

Lyon, G. J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: Cold Spring Harbor Laboratory: Wiring the Brain, Cold Spring Harbor, NY. (Unpublished)

Lyon, Gholson J. (2016) New human neurologic and intellectual disability syndromes involving transcription, translation, and protein degradation. In: Columbia Child Neurology and Institute of Genomic Medicine, Columbia University, New York, NY. (Unpublished)

Lyon, Gholson J. (2016) New human neurologic and intellectual disability syndromes involving transcription, translation, and protein degradation. In: Computational Genomics Seminar Series, Icahn School of Medicine at Mount Sinai, NY. (Unpublished)

Lyon, Gholson J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: 17th International Fragile X and Other Early-Onset Cognitive Disorders Workshop, Strasbourg, France. (Unpublished)

Lyon, Gholson J. (2015) Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. In: he American Society of Human Genetics (ASHG) 2015, Baltimore, MD. (Unpublished)

Lyon, Gholson J. (2015) A new intellectual disability syndrome. In: Seminar, Cold Spring Harbor Laboratory In-House Seminar Series, Cold Spring Harbor, NY. (Unpublished)

Lyon, Gholson J. (2016) A rare genetic “transcriptomopathy” syndrome leading to insights into more common neurologic disorders. In: New York City Wide Human Genetics Meeting 2016, Rockefeller University, New York City, NY. (Unpublished)

Lyon, Gholson J., Bird, Lynne M., Rope, Alan (2013) X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome). In: Inborn errors of development. Oxford University Press, Oxford; New York. ISBN 9780195306910 (Submitted)

Lyon, Gholson J., O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Robison, Reid J., Wang, Kai, Swensen, Jeffrey J. (2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

M

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Raber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M. C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B., Vermeesch, J. R., Barber, J. C., Willatt, L., Tassabehji, M., Eichler, E. E. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine , 359 (16). pp. 1685-99.

N

Nadif Kasri, N., Govek, E. E., Van Aelst, L. (2008) Characterization of Oligophrenin -1, a RhoGAP Lost in Patients Affected with Mental Retardation: Lentiviral Injection in Organotypic Brain Slice Cultures. Methods Enzymol, 439. pp. 255-266.

Nadif Kasri, N., Nakano-Kobayashi, A., Malinow, R., Li, B., Van Aelst, L. (2009) The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors. Genes Dev, 23 (11). pp. 1289-1302. ISSN 0890-9369

Nadif Kasri, N., Nakano-Kobayashi, A., Van Aelst, L. (2011) Rapid Synthesis of the X-Linked Mental Retardation Protein OPHN1 Mediates mGluR-Dependent LTD through Interaction with the Endocytic Machinery. Neuron, 72 (2). pp. 300-315. ISSN 1097-4199 (Electronic)0896-6273 (Linking)

Nadif Kasri, N., Van Aelst, L. (2008) Rho-linked genes and neurological disorders. Pflügers Archiv European Journal of Physiology, 455 (5). pp. 787-797.

Nakano-Kobayashi, A., Nadif Kasri, N., Newey, S. E., Van Aelst, L. (2009) The Rho-Linked Mental Retardation Protein OPHN1 Controls Synaptic Vesicle Endocytosis via Endophilin A1. Curr Biol, 19 (13). 1133-1139 .

Nakano-Kobayashi, A., Tai, Y., Nadif Kasri, N., Van Aelst, L. (2014) The X-linked Mental Retardation Protein OPHN1 Interacts with Homer1b/c to Control Spine Endocytic Zone Positioning and Expression of Synaptic Potentiation. Journal of Neuroscience, 34 (26). pp. 8665-71. ISSN 0270-6474

Newey, S. E., Velamoor, V., Govek, E.-E., Van Aelst, L. (2005) Rho GTPases, dendritic structure, and mental retardation. J Neurobiol, 64 (1). pp. 58-74. ISSN 0022-3034 (Print)

Nimchinsky, E. A., Oberlander, A. M., Svoboda, K. (2001) Abnormal development of dendritic spines in FMR1 knock-out mice. Journal of Neuroscience, 21 (14). pp. 5139-5146. ISSN 0270-6474

O

O'Donnell, W. T., Zito, K., Burbach, B., Svoboda, K., Warren, S. T. (2001) Identification of genes differentially expressed in wildtype and Fmr1 knockout mouse barrel cortex. American Journal of Human Genetics, 69 (4). p. 577. ISSN 0002-9297

O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Jimenez Barron, Laura, Swensen, Jeffrey J., Fang, Han, Mittelman, David, Highnam, Gareth, Robison, Reid J., Yang, Edward, Wang, Kai, Lyon, Gholson (2015) A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. bioRxiv. (Unpublished)

W

Wu, Y., Bolduc, F. V., Bell, K. G., Tully, T., Fang, Y., Sehgal, A., Fischer, J. A. (2008) A Drosophila model for Angelman syndrome. Proc Natl Acad Sci U S A, 105 (34). pp. 12399-404.

This list was generated on Thu Mar 30 20:26:44 2017 EDT.
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