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42 results for Yanagi,+Kumiko

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Select record 21
ArticlesPeer ReviewedFull Text
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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Select record 23
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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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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Select record 30
ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
Author / Creator:Chinen Yasutsugu ; Nakamura, Sadao ; Kaneshi Takuya ; Nakayashiro Mami ; Yanagi Kumiko ; Kaname Tadashi ; Naritomi Kenji ; Nakanishi Koichi
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2019-05, Vol.6 (1)
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Select record 32
ArticlesPeer ReviewedFull Text
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
Author / Creator:Hiraide, Takuya ; Watanabe, Seiji ; Matsubayashi, Tomoko ; Yanagi, Kumiko ; Nakashima, Mitsuko ; Ogata, Tsutomu ; Saitsu, Hirotomo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1145-n/a
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Select record 33
ArticlesPeer ReviewedFull Text
The CFTR gene variants in Japanese children with idiopathic pancreatitis
Author / Creator:Iso Manami ; Suzuki, Mitsuyoshi ; Yanagi Kumiko ; Minowa Kei ; Sakurai Yumiko ; Nakano Satoshi ; Satou Kazuhito ; Shimizu Toshiaki ; Kaname Tadashi
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2019-04, Vol.6 (1)
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Select record 34
ArticlesPeer ReviewedFull Text
A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Author / Creator:Kaname, Tadashi ; Yanagi, Kumiko ; Naritomi, Kenji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2013-02, Vol.58 (2), p.57-57
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Select record 35
ArticlesPeer ReviewedFull Text
Establishment of a primary hepatocyte culture from the small Indian mongoose (Herpestes auropunctatus) and distribution of mercury in liver tissue
Author / Creator:Horai, Sawako ; Yanagi, Kumiko ; Kaname, Tadashi ; Yamamoto, Masatatsu ; Watanabe, Izumi ; Ogura, Go ; Abe, Shintaro ; Tanabe, Shinsuke ; Furukawa, Tatsuhiko
Publisher:Boston: Springer-Verlag
Journal title:Ecotoxicology (London), 2014-11, Vol.23 (9), p.1681-1689
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Select record 36
ArticlesPeer ReviewedFull Text
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
Author / Creator:Katoh-fukui, Yuko ; Yatsuga, Shuichi ; Shima, Hirohito ; Hattori, Atsushi ; Nakamura, Akie ; Okamura, Kohji ; Yanagi, Kumiko ; Iso, Manami ; Kaname, Tadashi ; Matsubara, Yoichi ; Fukami, Maki
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2018-03, Vol.5, p.18006
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Select record 37
ArticlesPeer ReviewedFull Text
Estrogen Deficiency Accelerates Autoimmune Exocrinopathy in Murine Sjögren's Syndrome through Fas-Mediated Apoptosis
Author / Creator:Ishimaru, Naozumi ; Saegusa, Kaoru ; Yanagi, Kumiko ; Haneji, Norio ; Saito, Ichiro ; Hayashi, Yoshio
Publisher:Bethesda, MD: Elsevier Inc
Journal title:The American journal of pathology, 1999-07, Vol.155 (1), p.173-181
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Select record 38
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Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder
Author / Creator:Kaname, Tadashi ; Yanagi, Kumiko ; Wakui, Keiko ; Hashimoto, Ohiko ; Fukushima, Yoshimitsu ; Naritomi, Kenji
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Autism Research and Treatment, 2012-01, Vol.2012 (2012), p.232-236
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Select record 39
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Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy
Publisher:Berlin: Springer Nature B.V
Journal title:Annals of hematology, 2024-12, Vol.103 (12), p.5945-5950
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Select record 40
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Alpha-fodrin auto-antibody in Sjögren syndrome and other auto-immune diseases in childhood
Author / Creator:Takahashi, Kaoru ; Tatsuzawa, Osamu ; Yanagi, Kumiko ; Hayashi, Yoshio ; Takahashi, Hiroshi
Publisher:Heidelberg: Springer Science and Business Media LLC
Journal title:European Journal of Pediatrics, 2001-08, Vol.160 (8), p.520-521
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Showing 21 to 40 of 42 results

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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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A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

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A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

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The CFTR gene variants in Japanese children with idiopathic pancreatitis

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A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

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Establishment of a primary hepatocyte culture from the small Indian mongoose (Herpestes auropunctatus) and distribution of mercury in liver tissue

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An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

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Estrogen Deficiency Accelerates Autoimmune Exocrinopathy in Murine Sjögren's Syndrome through Fas-Mediated Apoptosis

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Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

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Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy

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Alpha-fodrin auto-antibody in Sjögren syndrome and other auto-immune diseases in childhood

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