F. Takada

发表

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

H. Ohashi, Y. Matsubara, T. Niihori, 2005, Journal of Human Genetics.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Toshihiko Ogura, Kenji Kurosawa, Yoichi Matsubara, 2013, American journal of human genetics.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

M. Tominaga, D. Chitayat, M. Deardorff, 2018, American journal of human genetics.

A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of Human Genetics.

Cytogenetic and molecular study of Angelman syndrome.

N. Niikawa, Y. Kuroki, K. Naritomi, 1990, American journal of medical genetics.

Physicians' opinion for ‘new’ genetic testing in Japan

F. Takada, A. Tsuchiya, T. Ohata, 2009, Journal of Human Genetics.

Knowledge and impressions regarding the concept of mutation among Japanese university students

Y. Saito, Y. Iwamitsu, N. Ando, 2008, Clinical genetics.

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

N. Matsumoto, H. Saitsu, T. Mizuguchi, 2007, American journal of medical genetics. Part A.

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes

R. Fodde, T. Ogata, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations

T. Mukai, T. Ogata, R. Kosaki, 2014, Genetics in Medicine.

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

K. Campbell, I. Nonaka, Y. Hayashi, 2006, Annals of neurology.

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

O. Migita, K. Hata, F. Takada, 2021, Human genome variation.

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements

T. Ogata, A. Ohishi, F. Takada, 2014, Journal of Human Genetics.

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

F. Endo, A. Ohtake, F. Takada, 2020, Molecular genetics & genomic medicine.

Mutations of the slow muscle &agr;-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2002, Neurology.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Y. Fukushima, J. Inazawa, S. Saitoh, 2011, Journal of Human Genetics.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

Y. Fukushima, R. Kosaki, Y. Aoki, 2014, American journal of medical genetics. Part A.

Asphyxiating thoracic dystrophy: Surgical correction and 2-year follow-up in a girl

Y. Kuroki, F. Takada, K. Imaizumi, 1994, Japanese Journal of Human Genetics.

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region

T. Ogata, H. Miyoshi, Y. Hasegawa, 2017, Human mutation.

Couple's decision-making after birth of a child with an unbalanced chromosomal translocation

Toshiyuki Yamamoto, Tomoko Nishikawa, K. Kurosawa, 2008, Journal of Pediatric Neurology.

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Y. Fukushima, T. Morio, H. Kurahashi, 2022, Journal of Human Genetics.

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

O. Migita, Y. Fukushima, S. Takada, 2023, bioRxiv.

[Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].

C. Wada, Y. Yamazaki, F. Takada, 1996, Rinsho byori. The Japanese journal of clinical pathology.

[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].

C. Wada, Y. Yamazaki, F. Takada, 1996, Rinsho byori. The Japanese journal of clinical pathology.

Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome.

F. Takada, M. Yamaoka-Tojo, J. Ako, 2015, International journal of cardiology.

Molecular Basis for Hypochondroplasia in Japan

G. Nishimura, T. Hasegawa, F. Takada, 2022, Endocrines.

Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome

Y. Kuroki, F. Takada, K. Imaizumi, 1994, Japanese Journal of Human Genetics.

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

O. Migita, K. Okamura, T. Kawai, 2019, European journal of medical genetics.

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

O. Migita, A. Okamoto, Hiroko Ogata-Kawata, 2021, BMC research notes.

Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

S. Yamada, F. Hirahara, K. Kugu, 2016, Journal of Human Genetics.

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients

Yusuke Nakamura, Y. Fukushima, S. Ikegawa, 1995, Human Genetics.

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia

O. Migita, F. Takada, N. Isogawa, 2022, Human Genome Variation.

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

O. Migita, A. Okamoto, Hiroko Ogata-Kawata, 2019, BMC Research Notes.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

K. Nakayama, T. Ogata, T. Ogura, 2013, American journal of human genetics.

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Y. Fukushima, N. Matsumoto, Kunihiro Yoshida, 2006, Journal of human genetics.

Perceptions of the Concept of Mutation among Family Members of Patients Receiving Outpatient Genetic Services and University Students

K. Takemura, Y. Iwamitsu, N. Ando, 2009, Journal of Genetic Counseling.