Human Genome Variation最新文献

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis. 新的SKIC3变异在毛肝肠综合征合并血色素沉着症。

IF 1

Human Genome Variation Pub Date : 2025-07-18 DOI: 10.1038/s41439-025-00318-y

Kayo Ochiai, Yoshinori Aoki, Naoshi Yamada, Murasaki Aman, Atsushi Yamashita, Masatoshi Yamaguchi, Daisuke Nakato, Toshiki Takenouchi, Kenjiro Kosaki, Yuki Kodama, Hiroshi Moritake

引用次数: 0

A case of coexisting heterozygous NOTCH3 and HTRA1 mutations in cerebral small vessel disease. 脑小血管疾病中NOTCH3和HTRA1杂合突变共存1例。

IF 1

Human Genome Variation Pub Date : 2025-07-09 DOI: 10.1038/s41439-025-00317-z

Masataka Yamashiro, Daigo Yasutomi, Yuichiro Ohya, Satoshi Ohyama, Hiroshi Takashima, Takashi Tokashiki

引用次数: 0

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review. 努南综合征复发性蜂窝织炎伴淋巴水肿：RIT1变异病例报告及文献回顾

IF 1

Human Genome Variation Pub Date : 2025-06-04 DOI: 10.1038/s41439-025-00315-1

Yuki Kobayashi, Takeya Adachi, Umi Tahara, Moemi Tanaka, Hiroki Arakawa, Yohei Funatsu, Kazunori Moritani, Mamiko Yamada, Kenjiro Kosaki, Toyoko Inazumi

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引用次数: 0

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant. 日本患者遗传性痉挛性截瘫与罕见的KIF5A无义变异。

IF 1

Human Genome Variation Pub Date : 2025-06-02 DOI: 10.1038/s41439-025-00313-3

Shiroh Miura, Seria Suenaga, Hana Goto, Zhaonan Wang, Akane Makino, Luoming Fan, Kensuke Senzaki, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata

引用次数: 0

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly. 部分单体18p和21q由于父本互惠易位导致前脑畸形。

IF 1

Human Genome Variation Pub Date : 2025-05-30 DOI: 10.1038/s41439-025-00314-2

Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori, Masahide Goto, Toshihiro Tajima, Aiko Sasaki, Takayoshi Matsumura, Takanori Yamagata

引用次数: 0

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications. Beckwith-Wiedermann综合征伴非典型并发症的新发CDKN1C变异。

IF 1

Human Genome Variation Pub Date : 2025-05-28 DOI: 10.1038/s41439-025-00316-0

Yuri Moriura, Yosuke Nishio, Shintaro Ichimura, Haruka Noda, Yoshihiro Tanahashi, Hikaru Yamamoto, Yuka Nakazawa, Taichi Oso, Yoshiaki Sato, Toshiki Takenouchi, Shinji Saitoh, Yukako Muramatsu, Tomoo Ogi

引用次数: 0

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young. 两名日本青年成熟型糖尿病患者的两种新型致病性PDX1变异

IF 1

Human Genome Variation Pub Date : 2025-05-16 DOI: 10.1038/s41439-025-00312-4

Satoshi Tanaka, Hiroyuki Akagawa, Michiyo Hase, Naoko Iwasaki

引用次数: 0

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A. 罕见线粒体DNA突变m.10197G>A胚胎植入前基因检测成功分娩。

IF 1

Human Genome Variation Pub Date : 2025-04-01 DOI: 10.1038/s41439-025-00311-5

Yuki Mizuguchi, Kou Sueoka, Suguru Sato, Mamoru Tanaka

引用次数: 0

Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities. 2例发育和神经异常患者的非复发性17p重复。

IF 1

Human Genome Variation Pub Date : 2025-03-26 DOI: 10.1038/s41439-025-00310-6

Ah Jin Lee, Byung Kwon Pi, Soo Hyun Nam, Hyun Su Kim, Byung-Ok Choi, Ki Wha Chung

引用次数: 0

In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy. ABCD1帧内缺失变体在散发性肾上腺脑白质营养不良病例中的表现。

IF 1

Human Genome Variation Pub Date : 2025-02-28 DOI: 10.1038/s41439-025-00309-z

Takashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, Akihito Hao, Mitsuhiro Kainaga, Hyangri Chang, Tatsuo Mano, Hiroyuki Ishiura, Jun Mitsui, Toshihiro Hayashi, Shinichi Morishita, Shoji Tsuji, Tatsushi Toda

引用次数: 0