Výsledky vyhledávání - "Keiko, Shimojima Yamamoto"

Akademický článek

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Autor: Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-5 (2024)

Abstract Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally deriv

Externí odkaz: https://doaj.org/article/c45cff0547904beb86b47c8556681b6d

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Akademický článek

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Autor: Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

Abstract A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the cl

Externí odkaz: https://doaj.org/article/d06c934531f645b5b3b06d6ea591b902

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Akademický článek

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

Autor: Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

Abstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss

Externí odkaz: https://doaj.org/article/6f129f5d0b704eb3a0575142992aadfe

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Akademický článek

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

Publikováno v: Human Genome Variation, Vol 10, Iss 1, Pp 1-6 (2023)

Abstract Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical

Externí odkaz: https://doaj.org/article/f434ba04490942fdab9e164bc91d0e89

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Akademický článek

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features

Autor: Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)

Abstract A biallelic nonsense variant of the potassium channel tetramerization domain-containing protein 3 gene (KCTD3) [c.1192C>T; p.R398*] was identified in a patient with developmental epileptic encephalopathy with distinctive features and brain s

Externí odkaz: https://doaj.org/article/50cae56a73014639a69ed6f79c46defc

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Akademický článek

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Autor: Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)

Abstract Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants h

Externí odkaz: https://doaj.org/article/29ef0b91f46845918ebc8ee21f3bec24

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Akademický článek

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

Autor: Keiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura, Takako Aoki, Takahiro Kawakami, Shoichi Ohga, Akira Ohara, Etsuro Ito, Toshiyuki Yamamoto, Hitoshi Kanno

Publikováno v: Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)

Blood disorder: Targeted sequencing helps diagnosis when symptoms vary Genetic testing can help accurately diagnose people suspected of having a rare blood disorder called hereditary spherocytosis, the clinical symptoms of which often vary. Researche

Externí odkaz: https://doaj.org/article/bd96da2165d44c4086f36908541d61a1

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Akademický článek

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Autor: Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)

Abstract A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The

Externí odkaz: https://doaj.org/article/7b4b5f1712354bf28cefbb8ecf7d6500

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