Y. Niida

M. Nangaku, D. Braddock, T. Takamura, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma.

Yiping Shen, J. Gusella, A. Stemmer-Rachamimov, 2005, Cancer genetics and cytogenetics.

Expansion of activated eosinophils in infants with severe atopic dermatitis

Y. Niida, A. Yachie, S. Koizumi, 2005, Pediatrics international : official journal of the Japan Pediatric Society.

A novel PHEX mutation associated with vitamin D-resistant rickets

T. Takamura, Y. Niida, Kiyo-aki Ishii, 2019, Human Genome Variation.

A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.

T. Takamura, Y. Niida, Y. Takeshita, 2021, Endocrine journal.

The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion

Kenichi Yoshida, H. Sugiyama, Y. Niida, 2022, International journal of molecular sciences.

Expression of L‐selectin (CD62L) discriminates Th1‐ and Th2‐like cytokine‐producing memory CD4+ T cells

H. Kanegane, T. Miyawaki, K. Takatsu, 1996, Immunology.

Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model

Y. Niida, E. Takase, M. Ozaki, 2018, Cytogenetic and Genome Research.

The differential expression of perilipin-2 in hepatoblastoma and its association with the prognosis Running title: perilipin-2 in hepatoblastoma

Itoh, Tohru, Y. Niida, 2022 .

Selectively induced high MRP gene expression in multidrug-resistant human HL60 leukemia cells.

Y. Niida, S. Koizumi, Y. Saikawa, 1999, Experimental hematology.

Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Y. Niida, M. Kuroda, Y. Mitani, 2017, Brain and Development.

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex

Y. Niida, S. Togi, Hiroki Ura, 2022, International journal of molecular sciences.

An infant with recurrent convulsive seizures of 3 weeks duration: Questions

Y. Niida, A. Yachie, S. Koizumi, 2014, Pediatric Nephrology.

An infant with recurrent convulsive seizures of 3 weeks’ duration: Answers

Y. Niida, A. Yachie, S. Koizumi, 2013, Pediatric Nephrology.

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

Y. Niida, M. Kuroda, Y. Mitani, 2012, Molecular genetics and metabolism.

A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

Y. Niida, S. Togi, Hiroki Ura, 2021, BMC genomics.

Amniotic membrane transplantation in acute phase of toxic epidermal necrolysis with severe corneal involvement.

S. Tseng, Y. Niida, K. Sugiyama, 2006, Ophthalmology.

Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes

Y. Niida, S. Togi, Hiroki Ura, 2021, International journal of molecular sciences.

Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories

Y. Niida, Takanori Tsuji, Yo Niida, 2008, Electrophoresis.

Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia

Y. Niida, H. Fujiwara, R. Yamazaki, 2020, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases

T. Taketani, Y. Niida, S. Fukuda, 2017, Journal of Human Genetics.

Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1

Y. Niida, A. Okumura, M. Ozaki, 2015, Brain and Development.

A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1

Y. Niida, M. Kuroda, Y. Mitani, 2016, Brain and Development.

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported

H. Yamada, Y. Niida, M. Kuroda, 2013, Journal of Human Genetics.

Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder.

T. Miyawaki, Y. Niida, T. Wada, 1998, International immunology.

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Janine Lewis, L. Ozelius, R. Beauchamp, 1999, Human mutation.

Optimization and Validation of Multi-modular Long-range PCR-based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex.

Y. Niida, S. Togi, Hiroki Ura, 2021, The Journal of molecular diagnostics : JMD.

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy

Y. Niida, M. Kuroda, Y. Mitani, 2012, Journal of Human Genetics.

Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern

Y. Niida, M. Shimizu, M. Ozaki, 2018, Cytogenetic and Genome Research.

Title A case of acute encephalopathy with hemophagocytic lymphohistiocytosisand clonal T-cell expansion

Y. Niida, T. Wada, A. Yachie, 2017 .

CHIPS for a Mutation Screening of a Large Sized Gene: An example ofNF1 Analysis

Yo Niida, Y. Niida, 2015 .

Serum tau protein as a marker of disease activity in enterohemorrhagic Escherichia coli O111-induced hemolytic uremic syndrome

H. Kanegane, Mika Ito, Y. Niida, 2015, Neurochemistry International.

Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

Y. Niida, S. Togi, Hiroki Ura, 2021, Current issues in molecular biology.

Superiority of Denaturing High Performance Liquid Chromatography over single‐stranded conformation and conformation‐sensitive gel electrophoresis for mutation detection in TSC2

D. Kwiatkowski, M. Reeve, Y. Niida, 1999, Annals of human genetics.

Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis

Y. Niida, S. Togi, Hiroki Ura, 2021, RNA biology.

Clinical and molecular cytogenetic characterization of two patients with non‐mutational aberrations of the FMR2 gene

J. Inazawa, S. Mizutani, I. Imoto, 2007, American journal of medical genetics. Part A.

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans

Y. Niida, A. Yachie, 2011 .

Lactoferrin in middle ear effusion.

Y. Niida, N. Yamanaka, A. Kataura, 1985, Auris, nasus, larynx.

Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease)

Y. Niida, 2015 .

Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease.

T. Kanekura, Y. Niida, H. Sakuraba, 2007, Clinica chimica acta; international journal of clinical chemistry.

TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma

Y. Niida, T. Uda, N. Kunihiro, 2021, Child's Nervous System.

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family

Y. Niida, Y. Saikawa, M. Itoh, 2016, Clinical Pediatric Endocrinology.

Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing

Y. Niida, S. Togi, Hiroki Ura, 2020, International journal of molecular sciences.

A case of acute encephalopathy with hemophagocytic lymphohistiocytosis and clonal T-cell expansion

Quang Van Vu, Y. Niida, T. Wada, 2012, Brain and Development.

Diffuse brain damage caused by acute twin‐twin transfusion during late pregnancy

Y. Niida, T. Wada, A. Yachie, 1998, Acta paediatrica Japonica : Overseas edition.

Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

Y. Niida, S. Togi, Hiroki Ura, 2021, Biology.

A Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome with a KAT6B 10‐base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

Y. Niida, M. Kuroda, Y. Mitani, 2017, Congenital anomalies.

A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

Y. Niida, S. Togi, Hiroki Ura, 2022, BMC Genomics.

B-cell-specific accumulation of inclusion bodies loaded with HLA class II molecules in patients with mucolipidosis II (I-cell disease)

Y. Niida, A. Yachie, T. Toma, 2018, Pediatric Research.

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants

Tomomi Tanaka, Y. Niida, Y. Hata, 2020, Brain and Development.

Microsatellite analysis of childhood leukemia: Correlation of 9p and 12p chromosome abnormalities with expression of related genes

Y. Niida, Y. Saikawa, R. Nishimura, 1999, Pediatrics international : official journal of the Japan Pediatric Society.

memory CD4+T cells

K. Takatsu, Y. Niida, A. Yachie, 1996 .

Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits

Y. Niida, T. Wada, S. Kitajima, 2022, Case Reports in Nephrology and Dialysis.

Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene

Y. Niida, Y. Saikawa, S. Koizumi, 1999, Pediatrics international : official journal of the Japan Pediatric Society.

Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.

Y. Niida, S. Togi, Hiroki Ura, 2022, Stem cell research.

The differential expression of perilipin-2 in hepatoblastoma and its association with prognosis.

Y. Niida, Jianbo Zheng, S. Yamada, 2021, Histology and histopathology.

Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells

Deng-Chyang Wu, Y. Niida, S. Yuan, 2023, Cancers.

Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review.

Y. Niida, S. Togi, Hiroki Ura, 2023, The Journal of dermatology.

Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases.

K. Tadokoro, Y. Niida, H. Tada, 2023, Molecular genetics and metabolism.

Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2).

Y. Niida, S. Togi, Hiroki Ura, 2022, Stem cell research.

Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene.

Y. Niida, S. Togi, Hiroki Ura, 2022, Stem cell research.

Cartilage‐hair hypoplasia associated with isolated hypoganglionosis: A case report

Y. Niida, M. Kohno, Y. Yasui, 2017, Congenital anomalies.

Human Heme Oxygenase (HO)-1 Deficiency and the Oxidative Injury of Vascular Endothelial Cells

Y. Niida, A. Yachie, Y. Saikawa, 2002 .

Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update.

M. Oya, Haruna Kawano, Yoshihiko Tomita, 2023, International journal of urology : official journal of the Japanese Urological Association.

Brain mimetic co-culture experiments identify mGluR1 dependence as a vulnerability of lung cancer brain metastasis

Y. Niida, E. Hirata, S. Togi, 2023 .

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

Y. Niida, S. Togi, Hiroki Ura, 2023, Frontiers in genetics.

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

Y. Niida, S. Togi, Hiroki Ura, 2023, Human genome variation.

Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies

Y. Niida, S. Togi, Hiroki Ura, 2023, Cureus.

Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS).

Y. Niida, S. Togi, Hiroki Ura, 2022, Stem Cell Research.

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

T. Kunikata, T. Yamadori, Y. Niida, 1996, Blood.