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Hironao Numabe
Observed names:
H Numabe,
NUMABE, Hironao,
Numabe, Hironao
Institution:
Tokyo-Kita Medical Center
Observed institutions:
Tokyo Medical University,
Kyoto University,
Ochanomizu University,
Tokyo Medical University Hospital,
Tokyo-Kita Medical Center,
National Center For Child Health and Development,
Kyoto University Hospital
show all 7
ORCID:
0000-0003-2661-8047
Observed ORCID:
0000-0003-2661-8047
OpenAlex ID:
A5088340066
Works
76
Awards
1
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes
2006
·
Haruya Sakai
, Remco Visser
, et al.
·
American Journal of Medical Genetics Part A
·
76
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
2014
·
Shino Shimada
, Keiko Shimojima
, et al.
·
Brain and Development
·
67
The majority of the marker chromosomes in Japanese patients with stigmata of turner syndrome are derived from Y chromosomes
1992
·
Shigeo Nagafuchi
, Takashi Tamura
, et al.
·
Human Genetics
·
40
Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss
2015
·
Satoru Sakazume
, Yasuhiro Kido
, et al.
·
Pediatrics International
·
39
GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome
2007
·
Satoru Sakazume
, Nobuhiko Okamoto
, et al.
·
American Journal of Medical Genetics Part A
·
36
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
2011
·
Tetsuya Niihori
, Yoko Aoki
, et al.
·
Journal of Human Genetics
·
34
DNA analyses of XX and XX-hypospadiac males
1992
·
Hironao Numabe
, Shigeo Nagafuchi
, et al.
·
Human Genetics
·
33
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function
2015
·
Hirotsugu Oda
, Tatsuhiro Sato
, et al.
·
European Journal of Human Genetics
·
30
PDF
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
2014
·
Eiko Nagata
, Hiroki Kano
, et al.
·
Orphanet Journal of Rare Diseases
·
28
PDF
PCR detection of structurally abnormal Y chromosomes
1992
·
Shigeo Nagafuchi
, Satoko Seki
, et al.
·
The Japanese Journal of Human Genetics
·
27
Comprehensive screening of CREB‐binding protein gene mutations among patients with Rubinstein‐Taybi syndrome using denaturing high‐performance liquid chromatography
2005
·
Toru Udaka
, Hazuki Samejima
, et al.
·
Congenital Anomalies
·
24
Squamous cell carcinoma‐related antigen in children with atopic dermatitis
2000
·
Hisashi Kawashima
, Shigeo Nishimata
, et al.
·
Pediatrics International
·
22
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia
2013
·
Takayoshi Tsuchiya
, Minoru Shibata
, et al.
·
American Journal of Medical Genetics Part A
·
21
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
2010
·
Shin Hayashi
, Issei Imoto
, et al.
·
Journal of Human Genetics
·
20
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome
2017
·
Mohammad Arif Hossain
, Hiroko Yanagisawa
, et al.
·
Molecular Genetics and Metabolism
·
18
Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners
2016
·
Motoko Watanabe
, Mari Matsuo
, et al.
·
Journal of Genetic Counseling
·
18
PDF
Klebsiella oxytoca Septicemia Complicating Rotavirus-Associated Acute Diarrhea
2007
·
Yasuyo Kashiwagi
, Satoshi Sato
, et al.
·
The Pediatric Infectious Disease Journal
·
18
National survey of prevalence and prognosis of thanatophoric dysplasia in Japan
2019
·
Hideaki Sawai
, Kaname Oka
, et al.
·
Pediatrics International
·
17
PDF
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities
2018
·
Junya Nakajima
, Shingo Oana
, et al.
·
Journal of Human Genetics
·
16
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia‐telangiectasia‐like disorder: Potential diagnostic clues?
2014
·
Takeshi Yoshida
, Tomonari Awaya
, et al.
·
American Journal of Medical Genetics Part A
·
13
PDF
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
2022
·
Hisato Suzuki
, Simo Li
, et al.
·
Human Molecular Genetics
·
12
Development of individuals with thanatophoric dysplasia surviving beyond infancy
2021
·
Mariko Ushioda
, Hideaki Sawai
, et al.
·
Pediatrics International
·
11
PDF
Psychological distress in post‐partum women after non‐invasive prenatal testing ( NIPT ) in Japan
2017
·
Eri Takeda
, Nobuhiro Suzumori
, et al.
·
Journal of obstetrics and gynaecology research
·
11
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
2016
·
Daniela Tiaki Uehara
, Shin Hayashi
, et al.
·
Journal of Human Genetics
·
11
Background of couples undergoing non‐invasive prenatal testing in Japan
2016
·
Eri Takeda
, Nobuhiro Suzumori
, et al.
·
Journal of obstetrics and gynaecology research
·
7
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Works count:
76
Citation count:
697
H-index:
17
I10-index:
24
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