Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Kanju Ikeno"'
Publikováno v:
Cytogenetic and Genome Research. 149:247-257
Less than 1% of the cases with Angelman syndrome (AS) are caused by chromosomal rearrangements. This category of AS is not well defined and may manifest atypical phenotypes. Here, we report a girl with AS due to der(13)t(13;15)(q14.1;q12)mat. SNP arr
Autor:
Susan Gitlin, Maelin da Silva, Eliana Feldberg, Marie Altmanová, Petr Ráb, Alexandre T. Dias, Diogo Cavalcanti Cabral-de-Mello, Amom M. Nascimento, Irene Madrigal, Maria do Mar Oom, Flavia Balbo Piazzon, Filomena Adega, Tatiane C. Mariguela, Roberta Lelis Dutra, Yo Niida, Michail Rovatsos, Marília M. Montenegro, Allison Anjos, Baptiste Carton, Ester Margarit, Leslie Domenici Kulikowski, Kim Labuschagne, Anne-Marie Dutrillaux, Masatsune Itoh, Antoinette Kotze, Helena J. Kjöllerström, Tyl H. Taylor, Lukáš Kratochvíl, Shiv D. Kale, Patricia Barbosa, Cassia Fernanda Yano, Roberto Ferreira Artoni, Satz Mengensatzproduktion, Darren K. Griffin, Rachel Sayuri Honjo, Lauren Johnson, Taís V.M.M. Costa, Evelin Aline Zanardo, Urarikha Kongprom, S. Katz, Gil M. Novo-Filho, Chong Ae Kim, Hitoshi Sato, Carlos Fernandes, Mamoru Ozaki, Gabriela C. Rocha, Cèlia Badenas, Andressa Paladini, Kanju Ikeno, Tariq Ezaz, Etsuko Takase, Druckerei Stückle, Kornsorn Srikulnath, Anna Soler, Luiz Antonio Carlos Bertollo, Virginia Borobio, Sebastian Maciak, Sudarath Baicharoen, Zuzana Majtánová, Yuriko Hirai, Jack L. Crain, Hirohisa Hirai, Lauriane Cacheux, Bernard Dutrillaux, Marcelo de Bello Cioffi, Oladele I. Jegede, Ezequiel Aguiar de Oliveira, Pawel Michalak, Martina Johnson Pokorná, Aurora Sánchez, Míriam Muñoz, Raquel Chaves, Sébastien Lavoué, Katarzyna Michalak, Raquel Matoso Silva
Publikováno v:
Cytogenetic and Genome Research. 149:I-IV
Publikováno v:
Congenital Anomalies. 56:253-255
Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up-slanting palp
Autor:
Lauriane Cacheux, Chong Ae Kim, Flavia Balbo Piazzon, Shiv D. Kale, Satz Mengensatzproduktion, Raquel Chaves, Aurora Sánchez, Gil M. Novo-Filho, Hitoshi Sato, Sébastien Lavoué, Bernard Dutrillaux, Sudarath Baicharoen, Katarzyna Michalak, Eliana Feldberg, Sebastian Maciak, Marcelo de Bello Cioffi, Gabriela C. Rocha, Yuriko Hirai, Míriam Muñoz, Amom M. Nascimento, Hirohisa Hirai, Raquel Matoso Silva, Anna Soler, Kanju Ikeno, Diogo Cavalcanti Cabral-de-Mello, Rachel Sayuri Honjo, Lukáš Kratochvíl, Marie Altmanová, Petr Ráb, Leslie Domenici Kulikowski, Kim Labuschagne, Jack L. Crain, Pawel Michalak, Zuzana Majtánová, Druckerei Stückle, Martina Johnson Pokorná, Ester Margarit, Helena J. Kjöllerström, Cassia Fernanda Yano, S. Katz, Luiz Antonio Carlos Bertollo, Virginia Borobio, Tariq Ezaz, Tyl H. Taylor, Baptiste Carton, Oladele I. Jegede, Maelin da Silva, Roberta Lelis Dutra, Etsuko Takase, Yo Niida, Marília M. Montenegro, Urarikha Kongprom, Ezequiel Aguiar de Oliveira, Masatsune Itoh, Alexandre T. Dias, Maria do Mar Oom, Michail Rovatsos, Lauren Johnson, Anne-Marie Dutrillaux, Kornsorn Srikulnath, Andressa Paladini, Susan Gitlin, Allison Anjos, Filomena Adega, Tatiane C. Mariguela, Taís V.M.M. Costa, Cèlia Badenas, Antoinette Kotze, Roberto Ferreira Artoni, Carlos Fernandes, Mamoru Ozaki, Darren K. Griffin, Evelin Aline Zanardo, Irene Madrigal, Patricia Barbosa
Publikováno v:
Cytogenetic and genome research. 149(4)
Publikováno v:
Pediatric Nephrology. 22:987-991
To identify the origin of urinary leukocytes in Kawasaki disease (KD) patients with pyuria, we prospectively studied clinical and laboratory findings of 23 KD patients. Patients were divided into three groups: patients without pyuria, patients with p
Autor:
Kanju Ikeno, Toshikazu Kakizaki, Kenji Sakimura, Masahiko Watanabe, Manabu Abe, Maya Yamazaki, Masahiro Fukaya
Publikováno v:
Neuroscience Letters. 304:81-84
Glutamate receptor interacting protein (GRIP) is a member of the PDZ domain-containing protein family that is localized in the postsynaptic density area. This protein has been reported to interact specifically with the C-termini of AMPA-selective glu
Publikováno v:
Pediatric neurology. 45(3)
Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstra
Publikováno v:
Pediatric nephrology (Berlin, Germany). 21(6)
Although hyponatremia frequently occurs in Kawasaki disease (KD), the clinical characteristics of KD patients with hyponatremia and the pathogenesis of hyponatremia in KD remain unknown. The aims of this study were to define the clinical characterist
Publikováno v:
Neuroscience research. 41(2)
The physiological function of the GluRdelta subfamily which is one of the glutamate receptor (GluR) channel subunits has not yet been clarified, because no GluR channel activity has been detected in heterologous expression systems. The Lurcher mutati