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42 results for Yanagi,+Kumiko

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ArticlesPeer ReviewedFull Text
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
Author / Creator:Yanagi, Kumiko ; Coker, Jonathan ; Miyana, Kaori ; Aso, Seijiro ; Kobayashi, Nana ; Satou, Kazuhito ; Richman, Adam ; Indupuru, Suneel ; Matsubara, Yoichi ; Kaname, Tadashi
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2023-06, Vol.68 (6), p.431-435
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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
Author / Creator:Yanagi, Kumiko ; Morimoto, Noriko ; Iso, Manami ; Abe, Yukimi ; Okamura, Kohji ; Nakamura, Tomoo ; Matsubara, Yoichi ; Kaname, Tadashi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1029-1034
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ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor
Author / Creator:Kanamaru Yuri ; Uchiyama Toru ; Kaname Tadashi ; Yanagi Kumiko ; Ohara Osamu ; Kunishima Shinji ; Ishiguro Akira
Publisher:Tokyo: Springer Nature B.V
Journal title:International journal of hematology, 2021-08, Vol.114 (2), p.297-300
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Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Author / Creator:Okamoto Nobuhiko ; Fuyuki, Miya ; Tsunoda Tatsuhiko ; Kanemura Yonehiro ; Saitoh Shinji ; Kato Mitsuhiro ; Yanagi Kumiko ; Kaname Tadashi ; Kosaki Kenjiro
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2022-04, Vol.43 (4), p.2765-2774
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Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants
Author / Creator:Nishi, Eriko ; Yanagi, Kumiko ; Kaname, Tadashi ; Okamoto, Nobuhiko
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-02, Vol.12 (2), p.e2396-n/a
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A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
Author / Creator:Kaname, Tadashi ; Yanagi, Kumiko
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-08, Vol.62 (8), p.739-740
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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
Author / Creator:Yamano, Shio ; Iguchi, Akihiro ; Ishikawa, Kotaro ; Sakamoto, Atsushi ; Uchiyama, Toru ; Yanagi, Kumiko ; Kaname, Tadashi ; Kunishima, Shinji ; Ishiguro, Akira
Publisher:Tokyo: Springer Nature B.V
Journal title:International journal of hematology, 2023-04, Vol.117 (4), p.622-625
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Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy
Author / Creator:Inoue, Masanori ; Sebastian, Wulan Apridita ; Sonoda, Shota ; Miyahara, Hiroaki ; Shimizu, Nobuyuki ; Shiraishi, Hiroshi ; Maeda, Miwako ; Yanagi, Kumiko ; Kaname, Tadashi ; Hanada, Reiko ; Hanada, Toshikatsu ; Ihara, Kenji
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.219-14, Article 219
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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Author / Creator:Okano, Satomi ; Makita, Yoshio ; Miyamoto, Akie ; Taketazu, Genya ; Kimura, Kayano ; Fukuda, Ikue ; Tanaka, Hajime ; Yanagi, Kumiko ; Kaname, Tadashi
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2023-02, Vol.10 (1), p.4
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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
Author / Creator:Yamamoto-Shimojima Keiko ; Akagawa Hiroyuki ; Yanagi Kumiko ; Kaname Tadashi ; Okamoto Nobuhiko ; Yamamoto Toshiyuki
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2021-04, Vol.8 (1)
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2024-01, Vol.11 (1), p.1
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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations
Author / Creator:Jinam, Timothy ; Nishida, Nao ; Hirai, Momoki ; Kawamura, Shoji ; Oota, Hiroki ; Umetsu, Kazuo ; Kimura, Ryosuke ; Ohashi, Jun ; Tajima, Atsushi ; Yamamoto, Toshimichi ; Tanabe, Hideyuki ; Mano, Shuhei ; Suto, Yumiko ; Kaname, Tadashi ; Naritomi, Kenji ; Yanagi, Kumiko ; Niikawa, Norio ; Omoto, Keiichi ; Tokunaga, Katsushi ; Saitou, Naruya
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2012-12, Vol.57 (12), p.787-795
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A commentary on the promise of whole-exome sequencing in medical genetics
Author / Creator:Kaname, Tadashi ; Yanagi, Kumiko ; Naritomi, Kenji
Publisher:England: Springer Science and Business Media LLC
Journal title:Journal of Human Genetics, 2014-03, Vol.59 (3), p.117-118
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Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene
Author / Creator:Ono, Hiroyuki ; Saitsu, Hirotomo ; Horikawa, Reiko ; Nakashima, Shinichi ; Ohkubo, Yumiko ; Yanagi, Kumiko ; Nakabayashi, Kazuhiko ; Fukami, Maki ; Fujisawa, Yasuko ; Ogata, Tsutomu
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-02, Vol.8 (1), p.2287-8, Article 2287
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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome
Author / Creator:Oda, Yoichiro ; Uchiyama, Yuri ; Motomura, Ai ; Fujita, Atsushi ; Azuma, Yoshiteru ; Harita, Yutaka ; Mizuguchi, Takeshi ; Yanagi, Kumiko ; Ogata, Hiroko ; Hata, Kenichiro ; Kaname, Tadashi ; Matsubara, Yoichi ; Wakui, Keiko ; Matsumoto, Naomichi
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-10, Vol.64 (10), p.1005-1014
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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
Author / Creator:Chinen, Yasutsugu ; Nakamura, Sadao ; Yanagi, Kumiko ; Kaneshi, Takuya ; Goya, Hideki ; Yoshida, Tomohide ; Satou, Kazuhito ; Kaname, Tadashi ; Naritomi, Kenji ; Nakanishi, Koichi
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2022-03, Vol.9 (1), p.9
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ArticlesPeer ReviewedFull Text
Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant
Author / Creator:Ganaha Akira ; Kaname Tadashi ; Yanagi Kumiko ; Tono Tetsuya ; Higa Teruyuki ; Suzuki, Mikio
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2019-08, Vol.6 (1)
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A novel HECW2 variant in an infant with congenital long QT syndrome
Author / Creator:Imanishi, Rina ; Nakau, Kouichi ; Shimada, Sorachi ; Oka, Hideharu ; Takeguchi, Ryo ; Tanaka, Ryosuke ; Sugiyama, Tatsutoshi ; Nii, Mitsumaro ; Okamoto, Toshio ; Nagaya, Ken ; Makita, Yoshio ; Yanagi, Kumiko ; Kaname, Tadashi ; Takahashi, Satoru
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2023-06, Vol.10 (1), p.17
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Novel NARS2 variant causing leigh syndrome with normal lactate levels
Author / Creator:Tanaka, Ryosuke ; Takeguchi, Ryo ; Kuroda, Mami ; Suzuki, Nao ; Makita, Yoshio ; Yanagi, Kumiko ; Kaname, Tadashi ; Takahashi, Satoru
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2022-05, Vol.9 (1), p.12
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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
Author / Creator:Chinen Yasutsugu ; Yanagi Kumiko ; Nakamura, Sadao ; Nakayama Noriko ; Kamiya Motoko ; Nakayashiro Mami ; Kaname Tadashi ; Naritomi Kenji ; Nakanishi Koichi
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2020-04, Vol.7 (1)
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Showing 1 to 20 of 42 results

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Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing

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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1

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ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor

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Four pedigrees with aminoacyl-tRNA synthetase abnormalities

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Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants

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A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

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Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression

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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

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A commentary on the promise of whole-exome sequencing in medical genetics

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Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

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Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant

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A novel HECW2 variant in an infant with congenital long QT syndrome

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Novel NARS2 variant causing leigh syndrome with normal lactate levels

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A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

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