Search Results - "Tiaki Uehara, Daniela"

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) by Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-Ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji

“…The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function…”
Get full text

Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel by Hirabayashi, Kyoko, Uehara, Daniela Tiaki, Abe, Hidetoshi, Ishii, Atsushi, Moriyama, Keiji, Hirose, Shinichi, Inazawa, Johji

“…Early-onset developmental and epileptic encephalopathy (DEE) is a group of devastating disorders that appear during the neonatal and infantile periods. Despite…”
Get full text

Identification of a Biallelic Missense Variant in Gasdermin D ( c.823G > C, p.Asp275His ) in a Patient of Atypical Gorham‐Stout Disease in a Consanguineous Family by Uehara, Daniela Tiaki, Muramatsu, Tomoki, Ishii, Senichi, Suzuki, Hidetsugu, Fukushima, Kazuyuki, Arasaki, Yasuhiro, Hayata, Tadayoshi, Inazawa, Johji, Ezura, Yoichi

“…Gorham–Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation…”
Get full text

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements by Uehara, Daniela Tiaki, Hayashi, Shin, Okamoto, Nobuhiko, Mizuno, Seiji, Chinen, Yasutsugu, Kosaki, Rika, Kosho, Tomoki, Kurosawa, Kenji, Matsumoto, Hiroshi, Mitsubuchi, Hiroshi, Numabe, Hironao, Saitoh, Shinji, Makita, Yoshio, Hata, Akira, Imoto, Issei, Inazawa, Johji

“…Intellectual disability (ID) is a heterogeneous condition affecting 2-3% of the population, often associated with multiple congenital anomalies (MCA). The…”
Get full text

A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature by Uehara, Daniela Tiaki, Mitsubuchi, Hiroshi, Inazawa, Johji

“…Mutations in proteins involved in cell division and chromosome segregation, such as microtubule-regulating, centrosomal and kinetochore proteins, are…”
Get full text

Frequency and spectrum of CHEK2 variants in a large Brazilian set of germline-tested patients by Santana, Thaiana Aragao, de Bustamante Fernandes, Carolina, Silva, Ana Carolina Branco Neves, Rego, Fernanda Orpinelli Ramos do, Christtanini Koyama, Fernanda, Testa Galindo, Layla, Tiaki Uehara, Daniela, Costa e Silva, Matheus, Souto, Andreza Karine, de Carvalho Oliveira, Leandro Jonata, Konzen, Daniele, Landeiro, Luciana, de Oliveira Nascimento, Ivana Lucia, Lima Bulcão, Marcela, Azevedo, Renata Gondim Meira Velame de, Farias, João Paulo Gonzaga de, Ferrari, Bruno Lemos, Zalis, Mariano, Dienstmann, Rodrigo, Garicochea, Bernardo

“…e22539 Background: CHEK2 is one of the most commonly affected genes in different cancers. P/LP variants can display differences in phenotype and in penetrance…”
Get full text

Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss by Uehara, Daniela Tiaki, Rincon, Daniel, Abreu-Silva, Ronaldo Serafim, Auricchio, Maria Teresa Balester de Mello, Tabith, Alfredo, Kok, Fernando, Mingroni-Netto, Regina Célia

“…Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were…”
Get more information