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A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever.
Published in:
Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1475179
By:
- Yamada, Saeko;
- Nagafuchi, Yasuo;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Natsumoto, Bunki;
- Ota, Mineto;
- Takazawa, Ikuo;
- Hatano, Hiroaki;
- Kono, Masanori;
- Harada, Hiroaki;
- Shoda, Hirofumi;
- Okamura, Tomohisa;
- Kosaki, Kenjiro;
- Fujio, Keishi
Publication type:
Article
CXCL12/CXCR4 pathway as a novel therapeutic target for RNF213-associated pulmonary arterial hypertension.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-77388-5
By:
- Hiraide, Takahiro;
- Tsuda, Noboru;
- Momoi, Mizuki;
- Shinya, Yoshiki;
- Sano, Motoaki;
- Fukuda, Keiichi;
- Shibahara, Junji;
- Kuramoto, Junko;
- Kanai, Yae;
- Kosaki, Kenjiro;
- Hakamata, Yoji;
- Kataoka, Masaharu
Publication type:
Article
Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
Published in:
Neurological Sciences, 2022, v. 43, n. 4, p. 2765, doi. 10.1007/s10072-021-05626-z
By:
- Okamoto, Nobuhiko;
- Miya, Fuyuki;
- Tsunoda, Tatsuhiko;
- Kanemura, Yonehiro;
- Saitoh, Shinji;
- Kato, Mitsuhiro;
- Yanagi, Kumiko;
- Kaname, Tadashi;
- Kosaki, Kenjiro
Publication type:
Article
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
Published in:
Neurological Sciences, 2021, v. 42, n. 7, p. 2975, doi. 10.1007/s10072-021-05152-y
By:
- Okamoto, Nobuhiko;
- Miya, Fuyuki;
- Kitai, Yukihiro;
- Tsunoda, Tatsuhiko;
- Kato, Mitsuhiro;
- Saitoh, Shinji;
- Kanemura, Yonehiro;
- Kosaki, Kenjiro
Publication type:
Article
Pro108Ser mutation of SARS-CoV-2 3CL<sup>pro</sup> reduces the enzyme activity and ameliorates the clinical severity of COVID-19.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05424-3
By:
- Abe, Kodai;
- Kabe, Yasuaki;
- Uchiyama, Susumu;
- Iwasaki, Yuka W.;
- Ishizu, Hirotsugu;
- Uwamino, Yoshifumi;
- Takenouchi, Toshiki;
- Uno, Shunsuke;
- Ishii, Makoto;
- Maruno, Takahiro;
- Noda, Masanori;
- Murata, Mitsuru;
- Hasegawa, Naoki;
- Saya, Hideyuki;
- Kitagawa, Yuko;
- Fukunaga, Koichi;
- Amagai, Masayuki;
- Siomi, Haruhiko;
- Suematsu, Makoto;
- Kosaki, Kenjiro
Publication type:
Article
Involvement of the zebrafish trrap gene in craniofacial development.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03123-z
By:
- Suzuki, Taichi;
- Hirai, Yo;
- Uehara, Tomoko;
- Ohga, Rie;
- Kosaki, Kenjiro;
- Kawahara, Atsuo
Publication type:
Article
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
Published in:
2010
By:
- Inoue, Hirosuke;
- Takada, Hidetoshi;
- Kusuda, Takeshi;
- Goto, Takako;
- Ochiai, Masayuki;
- Kinjo, Tadamune;
- Muneuchi, Jun;
- Takahata, Yasushi;
- Takahashi, Naomi;
- Morio, Tomohiro;
- Kosaki, Kenjiro;
- Hara, Toshiro
Publication type:
journal article
Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32887-9
By:
- Shiraishi, Yuichi;
- Okada, Ai;
- Chiba, Kenichi;
- Kawachi, Asuka;
- Omori, Ikuko;
- Mateos, Raúl Nicolás;
- Iida, Naoko;
- Yamauchi, Hirofumi;
- Kosaki, Kenjiro;
- Yoshimi, Akihide
Publication type:
Article
Omega-3 fatty acid epoxides produced by PAF-AH2 in mast cells regulate pulmonary vascular remodeling.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30621-z
By:
- Moriyama, Hidenori;
- Endo, Jin;
- Kataoka, Masaharu;
- Shimanaka, Yuta;
- Kono, Nozomu;
- Sugiura, Yuki;
- Goto, Shinichi;
- Kitakata, Hiroki;
- Hiraide, Takahiro;
- Yoshida, Naohiro;
- Isobe, Sarasa;
- Yamamoto, Tsunehisa;
- Shirakawa, Kohsuke;
- Anzai, Atsushi;
- Katsumata, Yoshinori;
- Suematsu, Makoto;
- Kosaki, Kenjiro;
- Fukuda, Keiichi;
- Arai, Hiroyuki;
- Sano, Motoaki
Publication type:
Article
Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution.
Published in:
Japanese Journal of Clinical Oncology, 2021, v. 51, n. 2, p. 213, doi. 10.1093/jjco/hyaa173
By:
- Kobayashi, Yusuke;
- Hirasawa, Akira;
- Chiyoda, Tatsuyuki;
- Ueki, Arisa;
- Masuda, Kenta;
- Misu, Kumiko;
- Kawaida, Miho;
- Hayashi, Shigenori;
- Kataoka, Fumio;
- Banno, Kouji;
- Kosaki, Kenjiro;
- Aoki, Daisuke
Publication type:
Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Published in:
Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
By:
- Murakami, Hiroaki;
- Uehara, Tomoko;
- Enomoto, Yumi;
- Nishimura, Naoto;
- Kumaki, Tatsuro;
- Kuroda, Yukiko;
- Asano, Mizuki;
- Aida, Noriko;
- Kosaki, Kenjiro;
- Kurosawa, Kenji
Publication type:
Article
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report.
Published in:
Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-020-00160-z
By:
- Abe, Kodai;
- Ueki, Arisa;
- Urakawa, Yusaku;
- Kitago, Minoru;
- Yoshihama, Tomoko;
- Nanki, Yoshiko;
- Kitagawa, Yuko;
- Aoki, Daisuke;
- Kosaki, Kenjiro;
- Hirasawa, Akira
Publication type:
Article
A de novo mutation (R279C) in theP63 gene in a patient with EEC syndrome.
Published in:
Clinical Genetics, 2001, v. 60, n. 4, p. 314, doi. 10.1034/j.1399-0004.2001.600411.x
By:
- Kosaki, Rika;
- Ohashi, Hirofumi;
- Yoshihashi, Hiroshi;
- Suzuki, Taichi;
- Kosaki, Kenjiro
Publication type:
Article
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-172
By:
- Hideki Mutai;
- Naohiro Suzuki;
- Atsushi Shimizu;
- Chiharu Torii;
- Kazunori Namba;
- Noriko Morimoto;
- Jun Kudoh;
- Kimitaka Kaga;
- Kenjiro Kosaki;
- Tatsuo Matsunaga
Publication type:
Article
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Published in:
2013
By:
- Mutai, Hideki;
- Suzuki, Naohiro;
- Shimizu, Atsushi;
- Torii, Chiharu;
- Namba, Kazunori;
- Morimoto, Noriko;
- Kudoh, Jun;
- Kaga, Kimitaka;
- Kosaki, Kenjiro;
- Matsunaga, Tatsuo
Publication type:
journal article
Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7962, doi. 10.3390/ijms22157962
By:
- Ueki, Arisa;
- Sugano, Kokichi;
- Misu, Kumiko;
- Aimono, Eriko;
- Nakamura, Kohei;
- Tanishima, Shigeki;
- Tanaka, Nobuyuki;
- Mikami, Shuji;
- Hirasawa, Akira;
- Ando, Miho;
- Yoshida, Teruhiko;
- Oya, Mototsugu;
- Nishihara, Hiroshi;
- Kosaki, Kenjiro
Publication type:
Article
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
Published in:
BMC Pulmonary Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12890-024-03290-5
By:
- Kaji, Masanori;
- Namkoong, Ho;
- Chubachi, Shotaro;
- Tanaka, Hiromu;
- Asakura, Takanori;
- Haraguchi Hashiguchi, Mizuha;
- Yamada, Mamiko;
- Uehara, Tomoko;
- Suzuki, Hisato;
- Tanabe, Naoya;
- Yamada, Yoshitake;
- Nozaki, Taiki;
- Ouchi, Takeshi;
- Tsuji, Atsutoshi;
- Kosaki, Kenjiro;
- Hasegawa, Naoki;
- Fukunaga, Koichi
Publication type:
Article
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
Published in:
2022
By:
- Yamada, Mamiko;
- Suzuki, Hisato;
- Adachi, Hiroyuki;
- Noguchi, Atsuko;
- Miya, Fuyuki;
- Takahashi, Tsutomu;
- Kosaki, Kenjiro
Publication type:
journal article
An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.
Published in:
2022
By:
- Hayakawa, Mika;
- Matsubara, Tomoyasu;
- Mochizuki, Yoko;
- Takeuchi, Chisen;
- Minamitani, Motoyuki;
- Imai, Masayuki;
- Kosaki, Kenjiro;
- Arai, Tomio;
- Murayama, Shigeo
Publication type:
journal article
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
Published in:
eLife, 2017, p. 1, doi. 10.7554/eLife.21114.001
By:
- Hironobu Okuno;
- Mihara, Francois Renault;
- Shigeki Ohta;
- Kimiko Fukuda;
- Kenji Kurosawa;
- Wado Akamatsu;
- Tsukasa Sanosaka;
- Jun Kohyama;
- Kanehiro Hayashi;
- Kazunori Nakajima;
- Takao Takahashi;
- Joanna Wysocka;
- Kenjiro Kosaki;
- Hideyuki Okano
Publication type:
Article
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1364
By:
- Yamada, Mamiko;
- Shiraishi, Yuichi;
- Uehara, Tomoko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Abe‐Hatano, Chihiro;
- Kurosawa, Kenji;
- Kosaki, Kenjiro
Publication type:
Article
A child with branchio‐oto‐renal spectrum disorder carrying an SIX1 variant.
Published in:
2023
By:
- Arai, Hirokazu;
- Noguchi, Atsuko;
- Shina, Kazuhiro;
- Otaka, Shin;
- Takahashi, Ikuko;
- Kosaki, Kenjiro;
- Takahashi, Tsutomu
Publication type:
Case Study
Prevalence of Hallermann–Streiff syndrome in a Japanese pediatric population.
Published in:
2021
By:
- Numabe, Hironao;
- Kosaki, Kenjiro
Publication type:
Case Study
A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty.
Published in:
2021
By:
- Saito, Maki;
- Hirano, Daishi;
- Kobayashi, Hiroshi;
- Kosaki, Kenjiro;
- Miyata, Ichiro
Publication type:
Case Study
Improvement of opsoclonus after congenital cataract surgery in an infant.
Published in:
Pediatrics International, 2020, v. 62, n. 1, p. 108, doi. 10.1111/ped.14039
By:
- Yamaguchi, Hiroshi;
- Morisada, Naoya;
- Maruyama, Azusa;
- Kosaki, Kenjiro;
- Nomura, Koji
Publication type:
Article
RNF213 -Associated Vascular Disease: A Concept Unifying Various Vasculopathies.
Published in:
Life (2075-1729), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/life12040555
By:
- Hiraide, Takahiro;
- Suzuki, Hisato;
- Momoi, Mizuki;
- Shinya, Yoshiki;
- Fukuda, Keiichi;
- Kosaki, Kenjiro;
- Kataoka, Masaharu
Publication type:
Article
KIF1A mutation in a patient with progressive neurodegeneration.
Published in:
Journal of Human Genetics, 2014, v. 59, n. 11, p. 639, doi. 10.1038/jhg.2014.80
By:
- Okamoto, Nobuhiko;
- Miya, Fuyuki;
- Tsunoda, Tatsuhiko;
- Yanagihara, Keiko;
- Kato, Mitsuhiro;
- Saitoh, Shinji;
- Yamasaki, Mami;
- Kanemura, Yonehiro;
- Kosaki, Kenjiro
Publication type:
Article
Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 12, p. 794, doi. 10.1038/jhg.2013.105
By:
- Hirasawa, Akira;
- Zama, Takeru;
- Akahane, Tomoko;
- Nomura, Hiroyuki;
- Kataoka, Fumio;
- Saito, Koichiro;
- Okubo, Keisuke;
- Tominaga, Eiichiro;
- Makita, Kazuya;
- Susumu, Nobuyuki;
- Kosaki, Kenjiro;
- Tanigawara, Yusuke;
- Aoki, Daisuke
Publication type:
Article
Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 12, p. 825, doi. 10.1038/jhg.2013.110
By:
- Hirasawa, Akira;
- Zama, Takeru;
- Akahane, Tomoko;
- Nomura, Hiroyuki;
- Kataoka, Fumio;
- Saito, Koichiro;
- Okubo, Keisuke;
- Tominaga, Eiichiro;
- Makita, Kazuya;
- Susumu, Nobuyuki;
- Kosaki, Kenjiro;
- Tanigawara, Yusuke;
- Aoki, Daisuke
Publication type:
Article
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia.
Published in:
2019
By:
- Fujisawa, Taishi;
- Aizawa, Yoshiyasu;
- Katsumata, Yoshinori;
- Udo, Akihiro;
- Ito, Shogo;
- Hatakeyama, Kazumasa;
- Hirose, Makoto;
- Miyama, Hiroshi;
- Nakajima, Kazuaki;
- Nishiyama, Takahiko;
- Kimura, Takehiro;
- Nitta, Masamitsu;
- Misumi, Kazuo;
- Takatsuki, Seiji;
- Kosaki, Kenjiro;
- Fukuda, Keiichi
Publication type:
Case Study
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 650, doi. 10.1002/ajmg.c.31755
By:
- Takenouchi, Toshiki;
- Okuno, Hironobu;
- Kosaki, Kenjiro
Publication type:
Article
Medical genetics and genomic medicine in Japan.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 166, doi. 10.1002/ajmg.c.31702
By:
- Suzuki, Hisato;
- Watanabe, Tomoko;
- Uehara, Tomoko;
- Kosaki, Kenjiro
Publication type:
Article
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63614
By:
- Yamada, Mamiko;
- Mizuno, Seiji;
- Inaba, Mie;
- Uehara, Tomoko;
- Inagaki, Hidehito;
- Suzuki, Hisato;
- Miya, Fuyuki;
- Takenouchi, Toshiki;
- Kurahashi, Hiroki;
- Kosaki, Kenjiro
Publication type:
Article
Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63575
By:
- Nishino, Megumi;
- Tanaka, Mai;
- Imagawa, Kazuo;
- Yaita, Katsuyuki;
- Enokizono, Takashi;
- Ohto, Tatsuyuki;
- Suzuki, Hisato;
- Yamada, Mamiko;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro;
- Takada, Hidetoshi
Publication type:
Article
A novel variant of ARPC4‐related neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 893, doi. 10.1002/ajmg.a.63082
By:
- Kuroda, Yukiko;
- Kumaki, Tatsuro;
- Saito, Yoko;
- Enomoto, Yumi;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro;
- Kurosawa, Kenji
Publication type:
Article
Elements of morphology: Standard terminology for the trunk and limbs.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3191, doi. 10.1002/ajmg.a.62965
By:
- Biesecker, Leslie G.;
- Adam, Margaret P.;
- Chung, Brian Hon‐Yin;
- Kosaki, Kenjiro;
- Menke, Leonie A.;
- White, Susan M.;
- Carey, John C.;
- Hennekam, Raoul C. M.
Publication type:
Article
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2472, doi. 10.1002/ajmg.a.62777
By:
- Yamada, Mamiko;
- Suzuki, Hisato;
- Miya, Fuyuki;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro
Publication type:
Article
Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2246, doi. 10.1002/ajmg.a.62733
By:
- Maruwaka, Kaori;
- Nakajima, Yoko;
- Yamada, Takaharu;
- Tanaka, Taihei;
- Kosaki, Rika;
- Inagaki, Hidehito;
- Kosaki, Kenjiro;
- Kurahashi, Hiroki
Publication type:
Article
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1184, doi. 10.1002/ajmg.a.62638
By:
- Ogura, Yurie;
- Uehara, Tomoko;
- Ujibe, Kota;
- Yoshihashi, Hiroshi;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro;
- Hirata, Hiromi
Publication type:
Article
A patient with compound heterozygosity of SMPD4: Another example of utility of exome‐based copy number analysis in autosomal recessive disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 613, doi. 10.1002/ajmg.a.62535
By:
- Yamada, Mamiko;
- Suzuki, Hisato;
- Shima, Taiki;
- Uehara, Tomoko;
- Kosaki, Kenjiro
Publication type:
Article
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 446, doi. 10.1002/ajmg.a.62533
By:
- Nishi, Eriko;
- Takenouchi, Toshiki;
- Miya, Fuyuki;
- Uehara, Tomoko;
- Yanagi, Kumiko;
- Hasegawa, Yuiko;
- Ueda, Kimiko;
- Mizuno, Seiji;
- Kaname, Tadashi;
- Kosaki, Kenjiro;
- Okamoto, Nobuhiko
Publication type:
Article
Vanishing basal ganglia in ATP1A3‐related polymicrogyria.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 665, doi. 10.1002/ajmg.a.62531
By:
- Ogawa, Eri;
- Sakaguchi, Yuri;
- Enokizono, Mikako;
- Yoshihashi, Hiroshi;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Kosaki, Kenjiro;
- Miyama, Sahoko;
- Takenouchi, Toshiki
Publication type:
Article
Corrigendum to "HECW2‐related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3926, doi. 10.1002/ajmg.a.62414
By:
- Yanagishita, Tomoe;
- Hirade, Takuya;
- Yamamoto, Keiko Shimojima;
- Funatsuka, Makoto;
- Miyamoto, Yusaku;
- Maeda, Makiko;
- Yanagi, Kumiko;
- Kaname, Tadashi;
- Nagata, Satoru;
- Nagata, Miho;
- Ishihara, Yasuki;
- Miyashita, Yohei;
- Asano, Yoshihiro;
- Sakata, Yasushi;
- Kosaki, Kenjiro;
- Yamamoto, Toshiyuki
Publication type:
Article
HECW2‐related disorder in four Japanese patients.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2895, doi. 10.1002/ajmg.a.62363
By:
- Yanagishita, Tomoe;
- Hirade, Takuya;
- Shimojima Yamamoto, Keiko;
- Funatsuka, Makoto;
- Miyamoto, Yusaku;
- Maeda, Makiko;
- Yanagi, Kumiko;
- Kaname, Tadashi;
- Nagata, Satoru;
- Nagata, Miho;
- Ishihara, Yasuki;
- Miyashita, Yohei;
- Asano, Yoshihiro;
- Sakata, Yasushi;
- Kosaki, Kenjiro;
- Yamamoto, Toshiyuki
Publication type:
Article
Clinical spectrum of individuals with de novo EBF3 variants or deletions.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2913, doi. 10.1002/ajmg.a.62369
By:
- Nishi, Eriko;
- Uehara, Tomoko;
- Yanagi, Kumiko;
- Hasegawa, Yuiko;
- Ueda, Kimiko;
- Kaname, Tadashi;
- Yamamoto, Toshiyuki;
- Kosaki, Kenjiro;
- Okamoto, Nobuhiko
Publication type:
Article
Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2821, doi. 10.1002/ajmg.a.62137
By:
- Yamada, Mamiko;
- Arimitsu, Takeshi;
- Osada, Asami;
- Kosaki, Kenjiro
Publication type:
Article
Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2084, doi. 10.1002/ajmg.a.62226
By:
- Uehara, Tomoko;
- Sanuki, Rikako;
- Ogura, Yurie;
- Yokoyama, Atsushi;
- Yoshida, Takeshi;
- Futagawa, Hiroshi;
- Yoshihashi, Hiroshi;
- Yamada, Mamiko;
- Suzuki, Hisato;
- Takenouchi, Toshiki;
- Matsubara, Kohei;
- Hirata, Hiromi;
- Kosaki, Kenjiro;
- Takano‐Shimizu, Toshiyuki
Publication type:
Article
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1836, doi. 10.1002/ajmg.a.62152
By:
- Yamada, Mamiko;
- Ono, Masae;
- Ishii, Tomohiro;
- Suzuki, Hisato;
- Uehara, Tomoko;
- Takenouchi, Toshiki;
- Kosaki, Kenjiro
Publication type:
Article
Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1544, doi. 10.1002/ajmg.a.62132
By:
- Yamada, Mamiko;
- Kubota, Kazumi;
- Uchida, Atsuro;
- Yagihashi, Tatsuhiko;
- Kawasaki, Masahito;
- Suzuki, Hisato;
- Uehara, Tomoko;
- Takenouchi, Toshiki;
- Kurosaka, Hiroshi;
- Kosaki, Kenjiro
Publication type:
Article
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1113, doi. 10.1002/ajmg.a.62084
By:
- Maiko Hatano;
- Hiroko Fukushima;
- Tatsuyuki Ohto;
- Yuichi Ueno;
- Saki Saeki;
- Takashi Enokizono;
- Ryuta Tanaka;
- Mai Tanaka;
- Kazuo Imagawa;
- Yu Kanai;
- Mitsuhiro Kato;
- Hiroshi Shiraku;
- Hisato Suzuki;
- Tomoko Uehara;
- Toshiki Takenouchi;
- Kenjiro Kosaki;
- Hidetoshi Takada
Publication type:
Article

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