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Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

Journal of human genetics, 2022-05, Vol.67 (5), p.303-306

2022

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Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias

The journal of clinical endocrinology and metabolism, 2023-09, Vol.108 (10), p.2550-2560

2023

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Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation

Endocrine Journal, 2021, Vol.68(5), pp.605-611

2021

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Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

Journal of human genetics, 2021-04, Vol.66 (4), p.439-443

2021

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The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

PLoS genetics, 2010-06, Vol.6 (6), p.e1000992

2010

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Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

Clinical Pediatric Endocrinology, 2022, Vol.31(3), pp.172-177

2022

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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

European journal of human genetics : EJHG, 2019-12, Vol.27 (12), p.1845-1857

2019

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De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

Journal of human genetics, 2020-01, Vol.65 (2), p.181-186

2020

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Immunostimulating Activity of a Crude Polysaccharide Derived from Green Tea (Camellia sinensis) Extract

Journal of agricultural and food chemistry, 2008-02, Vol.56 (4), p.1423-1427

2008

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia

PloS one, 2014-03, Vol.9 (3), p.e91598-e91598

2014

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MAMLD1 and 46,XY disorders of sex development

Seminars in reproductive medicine, 2012-10, Vol.30 (5), p.410

2012

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Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

Journal of human genetics, 2015-02, Vol.60 (2), p.91-95

2015

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Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma

The Journal of steroid biochemistry and molecular biology, 2016-05, Vol.159, p.86-93

2016

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Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer

American journal of human genetics, 2006, Vol.78 (1), p.167-170

2006

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Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Clinical case reports, 2020-06, Vol.8 (6), p.1076-1080

2020

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IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

Clinical endocrinology (Oxford), 2014-05, Vol.80 (5), p.706-713

2014

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Mastermind-like Domain-containing 1 (MAMLD1 or CXorf6) Transactivates the Hes3 Promoter, Augments Testosterone Production, and Contains the SF1 Target Sequence

The Journal of biological chemistry, 2008-02, Vol.283 (9), p.5525-5532

2008

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A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

Endocrine Journal, 2013, Vol.60(7), pp.855-859

2013

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Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations

Epigenetics, 2012-10, Vol.7 (10), p.1142-1150

2012

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GATA3 abnormalities in six patients with HDR syndrome

Endocrine Journal, 2011, Vol.58(2), pp.117-121

2011

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A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol

The Tohoku Journal of Experimental Medicine, 2013, Vol.231(2), pp.75-84

2013

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Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

Journal of human genetics, 2008-05, Vol.53 (5), p.454-459

2008

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A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

ENDOCRINE JOURNAL, 2013-07, Vol.60 (7), p.855-859

2013

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Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR

Pediatric blood & cancer, 2023-04, Vol.70 (4), p.e30120-n/a

2023

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Technique for Screening Immune-Enhancing Polysaccharides in Food Using 1,25-Dihydroxyvitamin D3-Differentiated HL60 Cells

Journal of agricultural and food chemistry, 2007-04, Vol.55 (7), p.2543-2547

2007

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Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

Immunostimulating Activity of a Crude Polysaccharide Derived from Green Tea (Camellia sinensis) Extract

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia

MAMLD1 and 46,XY disorders of sex development

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma

Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients

Mastermind-like Domain-containing 1 (MAMLD1 or CXorf6) Transactivates the Hes3 Promoter, Augments Testosterone Production, and Contains the SF1 Target Sequence

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

Paternal uniparental disomy 14 and related disorders: Placental gene expression analyses and histological examinations

GATA3 abnormalities in six patients with HDR syndrome

A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis

A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR

Technique for Screening Immune-Enhancing Polysaccharides in Food Using 1,25-Dihydroxyvitamin D3-Differentiated HL60 Cells

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