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Material Type: Artigo
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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory featuresOttman, Ruth ; Kalachikov, Sergey ; Evgrafov, Oleg ; Ross, Barbara ; Winawer, Melodie ; Barker-Cummings, Christie ; Boneschi, Filippo Martinelli ; Choi, Chang ; Morozov, Pavel ; Das, Kamna ; Teplitskaya, Elita ; Yu, Andrew ; Cayanis, Eftihia ; Penchaszadeh, Graciela ; Kottmann, Andreas H ; Pedley, Timothy A ; Hauser, W. Allen ; Gilliam, T. ConradNature genetics, 2002-03, Vol.30 (3), p.335-341 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosaBanerjee, Poulabi ; Kleyn, Patrick W ; Knowles, James A ; Lewis, Charles A ; Ross, Barbara M ; Parano, Enrico ; Kovats, Steve G ; Lee, John J ; Penchaszadeh, Graciela K ; Ott, Jürg ; Jacobson, Samuel G ; Gilliam, T. ConradNature genetics, 1998-02, Vol.18 (2), p.177-179 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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No Evidence for Significant Linkage between Bipolar Affective Disorder and Chromosome 18 Pericentromeric Markers in a Large Series of Multiplex Extended PedigreesKnowles, James A. ; Rao, Peter A. ; Cox-Matise, Tara ; Loth, Jo Ellen ; de Jesus, Gracielle M. ; Levine, Laura ; Das, Kamna ; Penchaszadeh, Graciela K. ; Alexander, Joyce R. ; Lerer, Bernard ; Endicott, Jean ; Ott, Jurg ; Gilliam, T. Conrad ; Baron, MironAmerican journal of human genetics, 1998-04, Vol.62 (4), p.916-924 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Refinement of the Spinal Muscular Atrophy Locus to the Interval between D5S435 and MAP1BSoares, Vera M. ; Brzustowicz, Linda M. ; Kleyn, Patrick W. ; Knowles, James A. ; Palmer, David A. ; Asokan, Susha ; Penchaszadeh, Graciela K. ; Munsat, Theodore L. ; Gilliam, T.ConradGenomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.365-371 [Periódico revisado por pares]San Diego, CA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Trinucleotide repeat length instability and age of onset in Huntington's diseaseDuyao, M ; Ambrose, C ; Myers, R ; Novelletto, A ; Persichetti, F ; Frontali, M ; Folstein, S ; Ross, C ; Franz, M ; Abbott, M ; Gray, J ; Conneally, P ; Young, A ; Penney, J ; Hollingsworth, Z ; Shoulson, I ; Lazzarini, A ; Falek, A ; Koroshetz, W ; Sax, D ; Bird, E ; Vonsattel, J ; Bonilla, E ; Alvir, J ; Bickham Conde, J ; Cha, J.-H ; Dure, L ; Gomez, F ; Ramos, M ; Sanchez-Ramos, J ; Snodgrass, S ; de Young, M ; Wexler, N ; Moscowitz, C ; Penchaszadeh, G ; MacFarlane, H ; Anderson, M ; Jenkins, B ; Srinidhi, J ; Barnes, G ; Gusella, J ; MacDonald, MNature genetics, 1993-08, Vol.4 (4), p.387-392 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Homozygotes for Huntington's diseaseWexler, Nancy S ; Young, Anne B ; Tanzi, Rudolph E ; Travers, Helen ; Starosta-Rubinstein, Simon ; Penney, John B ; Snodgrass, S. Robert ; Shoulson, Ira ; Gomez, Fidela ; Arroyo, Maria A. Ramos ; Penchaszadeh, Graciela K ; Moreno, Humberto ; Gibbons, Kerin ; Faryniarz, Ann ; Hobbs, Wendy ; Anderson, Mary Anne ; Bonilla, Ernesto ; Conneally, P. Michael ; Gusella, James FNature (London), 1987-03, Vol.326 (6109), p.194-197 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Homozygosity and Physical Mapping of the Autosomal Recessive Retinitis Pigmentosa Locus (RP14) on Chromosome 6p21.3Banerjee, Poulabi ; Lewis, Charles A. ; Kleyn, Patrick W. ; Shugart, Yin Y. ; Ross, Barbara M. ; Penchaszadeh, Graciela K. ; Ott, Jurg ; Jacobson, Samuel G. ; Gilliam, T.Conrad ; Knowles, James A.Genomics (San Diego, Calif.), 1998-03, Vol.48 (2), p.171-177 [Periódico revisado por pares]San Diego, CA: Elsevier IncTexto completo disponível |
8 |
Material Type: Artigo
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Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6Brzustowicz, L.M. ; Kleyn, P.W. ; Boyce, F.M. ; Lien, L.L. ; Monaco, A.P. ; Penchaszadeh, G.K. ; Das, K. ; Wang, C.H. ; Munsat, T.L. ; Ott, J. ; Kunkel, L.M. ; Gilliam, T.C.Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.991-998 [Periódico revisado por pares]SAN DIEGO: Elsevier IncTexto completo disponível |
9 |
Material Type: Artigo
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Refinement of the spinal muscular atrophy locus by genetic and physical mappingWANG, C. H ; KLEYN, P. W ; PAVONE, L ; PARANO, E ; PENCHASZADEH, G. K ; MUNSAT, T ; KUNKEL, L. M ; GILLIAM, T. C ; VITALE, E ; ROSS, B. M ; LIEN, L ; XU, J ; CARTER, T. A ; BRZUSTOWICZ, L. M ; OBICI, S ; SELIG, SAmerican journal of human genetics, 1995, Vol.56 (1), p.202-209 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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Material Type: Artigo
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The role of mitochondrial DNA in Huntington's diseaseIrwin, C C ; Wexler, N S ; Young, A B ; Ozelius, L J ; Penney, J B ; Shoulson, I ; Snodgrass, S R ; Ramos-Arroyo, M A ; Sanchez-Ramos, J ; Penchaszadeh, G KJournal of molecular neuroscience, 1989-06, Vol.1 (2), p.129-136 [Periódico revisado por pares]United StatesTexto completo disponível |