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Material Type: Artigo
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Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaPaul N. Valdmanis Inge A Meijer; Annie Reynolds; Adrienne Lei; Patrick MacLeod; David Schlesinger; Mayana Zatz; Evan Reid; Patrick A Dion; Pierre Drapeau; Guy A RouleauAmerican Journal of Human Genetics v. 80, n. 1, p. 152-161, 2007Cambridge 2007Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaPaul N. Valdmanis Inge A Meijer; Annie Reynolds; Adrienne Lei; Patrick MacLeod; David Schlesinger; Mayana Zatz; Evan Reid; Patrick A Dion; Pierre Drapeau; Guy A RouleauAmerican Journal of Human Genetics v. 80, n. 1, p. 152-161, 2007Cambridge 2007Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Elevated Expression and Genetic Association Links the SOCS3 Gene to Atopic DermatitisEkelund, E. ; Sääf, A. ; Tengvall-Linder, M. ; Melen, E. ; Link, J. ; Barker, J. ; Reynolds, N.J. ; Meggitt, S.J. ; Kere, J. ; Wahlgren, C.-F. ; Pershagen, G. ; Wickman, M. ; Nordenskjöld, M. ; Kockum, I. ; Bradley, M.American journal of human genetics, 2006-06, Vol.78 (6), p.1060-1065 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin DiseaseVergnano, Marta ; Mockenhaupt, Maja ; Benzian-Olsson, Natashia ; Paulmann, Maren ; Grys, Katarzyna ; Mahil, Satveer K. ; Chaloner, Charlotte ; Barbosa, Ines A. ; August, Suzannah ; Burden, A. David ; Choon, Siew-Eng ; Cooper, Hywel ; Navarini, Alex A. ; Reynolds, Nick J. ; Wahie, Shyamal ; Warren, Richard B. ; Wright, Andrew ; Abraham, Thamir ; Ali, Mahmud ; August, Suzannah ; Baudry, David ; Bewley, Anthony ; Cooper, Hywel ; Griffiths, Christopher E.M. ; Ingram, John ; Kelly, Susan ; Korshid, Mohsen ; Ladoyanni, Effie ; McKenna, John ; Meynell, Freya ; Parslew, Richard ; Patel, Prakash ; Pushparajah, Angela ; Reynolds, Nick ; Smith, Catherine ; Wahie, Shyamal ; Warren, Richard ; Wright, Andrew ; Huffmeier, Ulrike ; Baum, Patrick ; Visvanathan, Sudha ; Barker, Jonathan N. ; Smith, Catherine H. ; Capon, FrancescaAmerican journal of human genetics, 2020-09, Vol.107 (3), p.539-543 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin diseaseVergnano, Marta ; Mockenhaupt, Maja ; Benzian-Olsson, Natashia ; Paulmann, Maren ; Grys, Katarzyna ; Mahil, Satveer K. ; Chaloner, Charlotte ; Barbosa, Ines A. ; August, Suzannah ; Burden, A. David ; Choon, Siew-Eng ; Cooper, Hywel ; Navarini, Alex A. ; Reynolds, Nick J. ; Wahie, Shyamal ; Warren, Richard B. ; Wright, Andrew ; Abraham, Thamir ; Ali, Mahmud ; Baudry, David ; Bewley, Anthony ; Griffiths, Christopher E.M. ; Ingram, John ; Kelly, Susan ; Korshid, Mohsen ; Ladoyanni, Effie ; McKenna, John ; Meynell, Freya ; Parslew, Richard ; Patel, Prakash ; Pushparajah, Angela ; Reynolds, Nick ; Smith, Catherine ; Warren, Richard ; Huffmeier, Ulrike ; Baum, Patrick ; Visvanathan, Sudha ; Barker, Jonathan N. ; Smith, Catherine H. ; Capon, FrancescaAmerican journal of human genetics, 2021-04, Vol.108 (4), p.757-757 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12Kurreeman, Fina A.S. ; Stahl, Eli A. ; Okada, Yukinori ; Liao, Katherine ; Diogo, Dorothée ; Raychaudhuri, Soumya ; Freudenberg, Jan ; Kochi, Yuta ; Patsopoulos, Nikolaos A. ; Gupta, Namrata ; Sandor, Cynthia ; Bang, So-Young ; Lee, Hye-Soon ; Padyukov, Leonid ; Suzuki, Akari ; Siminovitch, Kathy ; Worthington, Jane ; Gregersen, Peter K. ; Hughes, Laura B. ; Reynolds, Richard J. ; Bridges, S. Louis ; Bae, Sang-Cheol ; Yamamoto, Kazuhiko ; Plenge, Robert M.American journal of human genetics, 2012-03, Vol.90 (3), p.524-532 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic ParaplegiaValdmanis, Paul N. ; Meijer, Inge A. ; Reynolds, Annie ; Lei, Adrienne ; MacLeod, Patrick ; Schlesinger, David ; Zatz, Mayana ; Reid, Evan ; Dion, Patrick A. ; Drapeau, Pierre ; Rouleau, Guy A.American journal of human genetics, 2007-01, Vol.80 (1), p.152-161 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of CondensinopathiesKhan, Tahir N. ; Khan, Kamal ; Sadeghpour, Azita ; Reynolds, Hannah ; Perilla, Yezmin ; McDonald, Marie T. ; Gallentine, William B. ; Baig, Shahid M. ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Nicholas ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Davis, Erica E. ; Katsanis, NicholasAmerican journal of human genetics, 2019-01, Vol.104 (1), p.94-111 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)Veldhuisen, B. ; Saris, J.J. ; de Haij, S. ; Hayashi, T. ; Reynolds, D.M. ; Mochizuki, T. ; Elles, R. ; Fossdal, R. ; Bogdanova, N. ; Dijk, M. A. van ; Coto, E. ; Ravine, D. ; Nôrby, S. ; Verellen-Dumoulin, C. ; Breuning, M.H. ; Somlo, S. ; Peters, D.J.M.American journal of human genetics, 1997-09, Vol.61 (3), p.547-555 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in the KlAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic ParaplegiaValdmanis, Paul N ; Meijer, Inge A ; Reynolds, Annje ; Lei, AdrienneAmerican journal of human genetics, 2007-01, Vol.80 (1), p.152 [Periódico revisado por pares]Chicago: Cell PressTexto completo disponível |