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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 2, 2023. (Total: 223599Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Microcephaly and MECP2[original query]
[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities].
No to hattatsu. Brain and development 2005 Jan 37 (1): 39-45.
Miura Kiyokuni, Kumagai Toshiyuki, Suzuki Yoshiko, Ohki Takashi, Matsumoto Akiko, Miyazaki Shuji, Hayakawa Chiemi, Sonta Shin-ichi, Yamada Yasukazu, Wakamatsu Nobua
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Neurogenetics 2010 May 11 (2): 241-9.
Bahi-Buisson Nadia, Nectoux Juliette, Girard Benoit, Van Esch Hilde, De Ravel Thomy, Boddaert Nathalie, Plouin Perrine, Rio Marlene, Fichou Yann, Chelly Jamel, Bienvenu Thier
Epilepsy in Rett syndrome---the experience of a National Rett Center.
Epilepsia 2010 Jul 51 (7): 1252-8.
Nissenkorn Andreea, Gak Eva, Vecsler Manuela, Reznik Haia, Menascu Shay, Ben Zeev Brur
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Brain & development 2011 Jan 33 (1): 69-76.
Temudo Teresa, Santos Mónica, Ramos Elisabete, Dias Karin, Vieira José Pedro, Moreira Ana, Calado Eulália, Carrilho Inês, Oliveira Guiomar, Levy António, Barbot Clara, Fonseca Maria, Cabral Alexandra, Cabral Pedro, Monteiro José, Borges Luís, Gomes Roseli, Mira Graça, Pereira Susana Aires, Santos Manuela, Fernandes Anabela, Epplen Jorg T, Sequeiros Jorge, Maciel Patríc
Genotype-phenotype relationship among Egyptian children with Rett syndrome.
The Journal of the Egyptian Public Health Association 2015 Sep 90 (3): 133-7.
Mansour Lobna, El Sobky Ezzat, Mohamed Solaf M, Marzouk Huda, Tarek Lamia
Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 1 73 83-88.
Shiohama Tadashi, Levman Jacob, Takahashi E
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
BMC medical genetics 2020 5 21 (1): 99.
Gu Yi, Xiang Bingwu, Zhu Lina, Ma Xiuwei, Chen Xiang, Cai T
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