Publications by authors named "Hidefumi Tonoki"

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National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.
Yuko Okawa, Muneaki Matsuo, Rika Kosaki, Hidefumi Tonoki, Masanobu Fujimoto

Aging (Albany NY)· July 2025

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Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in gene: A case report.
Aya Kawasaki, Hidefumi Tonoki, Osamu Sasaki, Yoko Matsushita, Michiko Watari

Radiol Case Rep· March 2025

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A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.
Ayako Chida-Nagai, Hidefumi Tonoki, Naomasa Makita, Hiroyuki Ishiyama, Masafumi Ihara

Am J Med Genet A· December 2023

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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.
Mamiko Yamada, Hisato Suzuki, Fuyuki Miya, Kiyotaka Kosugiyama, Takeshi Ujiie, Hidefumi Tonoki

Congenit Anom (Kyoto)· July 2023

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Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
Ken Higashimoto, Hijiri Watanabe, Yuka Tanoue, Hidefumi Tonoki, Tomoharu Tokutomi

J Med Genet· June 2021

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Selective Eating in Autism Spectrum Disorder Leading to Kwashiorkor and Brain Edema.
Yuji Maruo, Kiyoshi Egawa, Hidefumi Tonoki, Satoshi Terae, Yuki Ueda

Pediatr Neurol· March 2021

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A girl presenting with gradually elevated levels of serum creatinine: Questions.
Shiori Hamada, Chie Kato, Toshiyuki Takahashi, Asako Hayashi, Yasuhiro Ueda, Hidefumi Tonoki

Pediatr Nephrol· August 2020

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A girl presenting with gradually elevated levels of serum creatinine: Answers.
Shiori Hamada, Chie Kato, Toshiyuki Takahashi, Asako Hayashi, Yasuhiro Ueda, Hidefumi Tonoki

Pediatr Nephrol· August 2020

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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, Rika Kosaki, Shinichiro Takayama, Hidefumi Tonoki

Eur J Hum Genet· December 2019

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A constitutional jumping translocation involving the Y and acrocentric chromosomes.
Makiko Tsutsumi, Naoko Fujita, Fumihiko Suzuki, Takashi Mishima, Satoko Fujieda, Hidefumi Tonoki

Asian J Androl· January 2019

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A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.
Nozomi Hishimura-Yonemaru, Koji Okuhara, Nobuhiro Takahashi, Hidefumi Tonoki, Susumu Iizuka

Clin Pediatr Endocrinol· September 2017

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Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.
Takashi Mishima, Michiko Watari, Yutaka Iwaki, Takumi Nagai, Miho Kawamata-Nakamura, Hidefumi Tonoki

Congenit Anom (Kyoto)· March 2017

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Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
Nozomi Hishimura, Michiko Watari, Hiroki Ohata, Naho Fuseya, Sadae Wakiguchi, Hidefumi Tonoki

Clin Case Rep· January 2017

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Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.
Kenji Kishimoto, Ryoji Kobayashi, Nozomi Yonemaru, Hiroshi Yamamoto, Takao Tsujioka, Hidefumi Tonoki

J Pediatr Hematol Oncol· May 2015

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Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Toshiyuki Maeda, Ken Higashimoto, Kosuke Jozaki, Hitomi Yatsuki, Kazuhiko Nakabayashi, Hidefumi Tonoki

Genet Med· December 2014

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Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Tadashi Kaname, Chang-Seok Ki, Norio Niikawa, George S Baillie, Jonathan P Day, Hidefumi Tonoki

Cell Signal· November 2014

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Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Eiko Nagata, Hiroki Kano, Fumiko Kato, Rie Yamaguchi, Shinichi Nakashima, Hidefumi Tonoki

Orphanet J Rare Dis· October 2014

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A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome.
Sayaka Yamamoto, Koji Okuhara, Hidefumi Tonoki, Susumu Iizuka, Noriko Nihei

Clin Pediatr Endocrinol· October 2013

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MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Hidefumi Tonoki

Am J Med Genet A· September 2013

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Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki

Am J Med Genet A· December 2011

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Mark C Hannibal, Kati J Buckingham, Sarah B Ng, Jeffrey E Ming, Anita E Beck, Hidefumi Tonoki

Am J Med Genet A· July 2011

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[Somatic mosaicism in genetic diseases].
Hidefumi Tonoki

Nihon Rinsho· August 2010

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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Hideo Kuniba, Koh-ichiro Yoshiura, Tatsuro Kondoh, Hirofumi Ohashi, Kenji Kurosawa, Hidefumi Tonoki

J Hum Genet· May 2009

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A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.
Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki

Am J Med Genet A· January 2008

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Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.
Katsuyuki Obikane, Taiji Nakashima, Yoshihiko Watarai, Ken Morita, Kazutoshi Cho, Hidefumi Tonoki

Pediatr Nephrol· April 2006

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