Publications by authors named "Hironao Numabe"

Claim this Profile
C
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.
Sachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, Naomi Tsuchida, Yuri Uchiyama

Genomics· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
Hisato Suzuki, Simo Li, Tomoharu Tokutomi, Chisen Takeuchi, Miyuki Takahashi, Hironao Numabe

Hum Mol Genet· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Development of individuals with thanatophoric dysplasia surviving beyond infancy.
Mariko Ushioda, Hideaki Sawai, Hironao Numabe, Gen Nishimura, Hiroaki Shibahara

Pediatr Int· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of Hallermann-Streiff syndrome in a Japanese pediatric population.
Hironao Numabe, Kenjiro Kosaki

Pediatr Int· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter.
Hikari Yamada, Masaru Shimura, Hidekuni Takahashi, Shonosuke Nara, Yasuyuki Morishima, Hironao Numabe

Eur J Med Genet· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.
Hideaki Sawai, Kaname Oka, Mariko Ushioda, Gen Nishimura, Takashi Omori, Hironao Numabe

Pediatr Int· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
Masaru Shimura, Shigeo Nishimata, Naoko Saito, Norito Tsutsumi, Shinji Suzuki, Hironao Numabe

J Pediatr Hematol Oncol· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.
Yasuyo Kashiwagi, Shinji Suzuki, Kazushi Agata, Yasuyuki Morishima, Natsuko Inagaki, Hironao Numabe

CEN Case Rep· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
5
58th Annual Meeting of the Japanese Teratology Society: Congenital anomalies as variants.
Hironao Numabe

Congenit Anom (Kyoto)· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Self-perceptions from people with Down syndrome in Japan.
Mio Wakai, Rina Takahashi, Satomi Higashigawa, Masami Ikeda, Junko Yotsumoto, Hironao Numabe

J Hum Genet· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.
Junya Nakajima, Shingo Oana, Tomohiro Sakaguchi, Mitsuko Nakashima, Hironao Numabe

J Hum Genet· April 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Psychological distress in post-partum women after non-invasive prenatal testing (NIPT) in Japan.
Eri Takeda, Nobuhiro Suzumori, Takeshi Ebara, Junko Yotsumoto, Kyoko Kumagai, Hironao Numabe

J Obstet Gynaecol Res· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
Motoko Watanabe, Mari Matsuo, Masaki Ogawa, Toshitaka Uchiyama, Satoru Shimizu, Hironao Numabe

J Genet Couns· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Hironao Numabe

Mol Genet Metab· March 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Background of couples undergoing non-invasive prenatal testing in Japan.
Eri Takeda, Nobuhiro Suzumori, Kyoko Kumagai, Kumiko Oseto, Takeshi Ebara, Hironao Numabe

J Obstet Gynaecol Res· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
Daniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, Seiji Mizuno, Yasutsugu Chinen, Hironao Numabe

J Hum Genet· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Hirotsugu Oda, Tatsuhiro Sato, Shinji Kunishima, Kenji Nakagawa, Kazushi Izawa, Hironao Numabe

Eur J Hum Genet· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.
Satoru Sakazume, Yasuhiro Kido, Nobuyuki Murakami, Tomoyo Matsubara, Hironao Numabe

Pediatr Int· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shino Shimada, Keiko Shimojima, Nobuhiko Okamoto, Noriko Sangu, Kyoko Hirasawa, Hironao Numabe

Brain Dev· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
J
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, Hironao Numabe

Orphanet J Rare Dis· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?
Takeshi Yoshida, Tomonari Awaya, Minoru Shibata, Takeo Kato, Hironao Numabe

Am J Med Genet A· July 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.
Takayoshi Tsuchiya, Minoru Shibata, Hironao Numabe, Tomoko Jinno, Kazuhiko Nakabayashi

Am J Med Genet A· February 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation.
Hisashi Kawashima, Kiyoko Watanabe, Yasuyoshi Morishima, Hiroaki Ioi, Yasuyo Kashiwagi, Hironao Numabe

Pediatr Int· February 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Hironao Numabe

J Hum Genet· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reproductive success in patients with Hallermann-Streiff syndrome.
Hironao Numabe, Hideaki Sawai, Zentaro Yamagata, Kaori Muto, Rika Kosaki

Am J Med Genet A· September 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis