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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

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Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

The journal of clinical endocrinology and metabolism, 2021-05, Vol.106 (5), p.1491-1500

2021

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Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Endocrine Journal, 2020, Vol.67(8), pp.853-857

2020

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Clinical features and molecular basis of pseudohypoaldosteronism type 1

Clinical Pediatric Endocrinology, 2017, Vol.26(3), pp.109-117

2017

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Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Clinical Pediatric Endocrinology, 2023, Vol.32(1), pp.26-51

2023

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A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

Endocrine Journal, 2013, Vol.60(2), pp.245-249

2013

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088

2018

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Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Genetics in medicine, 2017-04, Vol.19 (4), p.476-482

2017

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Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes

Scientific reports, 2024-04, Vol.14 (1), p.8069-8069, Article 8069

2024

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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

The journal of clinical endocrinology and metabolism, 2021-03, Vol.106 (3), p.802-813

2021

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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

Endocrine Journal, 2017, Vol.64(10), pp.947-954

2017

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Recent advances in research on isolated congenital central hypothyroidism

Clinical Pediatric Endocrinology, 2019, Vol.28(3), pp.69-79

2019

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Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ

Clinical Pediatric Endocrinology, 2022, Vol.31(4), pp.234-241

2022

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Use of time‑density curves of dynamic contrast‑enhanced computed tomography for determination of the histological therapeutic effects of neoadjuvant chemotherapy for pancreatic ductal adenocarcinoma

Oncology reports, 2023-03, Vol.49 (3), p.1, Article 61

2023

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Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system

Journal of human genetics, 2022-10, Vol.67 (10), p.607-611

2022

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Adipsic hypernatremia with marked hyperprolactinemia and GH deficiency in a 9-year-old boy

Clinical Pediatric Endocrinology, 2024, pp.2024-0001

2024

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Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis

Clinical Pediatric Endocrinology, 2021, Vol.30(2), pp.79-84

2021

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A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism

Journal of human genetics, 2018-03, Vol.63 (3), p.377-381

2018

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SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism

Endocrine Journal, 2017, Vol.64(8), pp.813-817

2017

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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Clinical epigenetics, 2020-06, Vol.12 (1), p.86-86, Article 86

2020

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Loss-of-Function and Gain-of-Function Mutations of Calcium-Sensing Receptor: Functional Analysis and the Effect of Allosteric Modulators NPS R-568 and NPS 2143

The journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1692-E1701

2013

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Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

Clinical epigenetics, 2023-05, Vol.15 (1), p.78-78, Article 78

2023

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Necrotizing pancreatitis complicated by retroperitoneal emphysema: two case reports

Surgical case reports, 2022-09, Vol.8 (1), p.183-183, Article 183

2022

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Case of miliaria rubra histologically showing neutrophilic eccrine hidradenitis due to hyperhidrosis induced by a catecholamine‐producing neuroblastoma

Journal of dermatology, 2020-03, Vol.47 (3), p.e92-e93

2020

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Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2847-2850

2017

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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Clinical features and molecular basis of pseudohypoaldosteronism type 1

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

Recent advances in research on isolated congenital central hypothyroidism

Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ

Use of time‑density curves of dynamic contrast‑enhanced computed tomography for determination of the histological therapeutic effects of neoadjuvant chemotherapy for pancreatic ductal adenocarcinoma

Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system

Adipsic hypernatremia with marked hyperprolactinemia and GH deficiency in a 9-year-old boy

Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis

A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Loss-of-Function and Gain-of-Function Mutations of Calcium-Sensing Receptor: Functional Analysis and the Effect of Allosteric Modulators NPS R-568 and NPS 2143

Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

Necrotizing pancreatitis complicated by retroperitoneal emphysema: two case reports

Case of miliaria rubra histologically showing neutrophilic eccrine hidradenitis due to hyperhidrosis induced by a catecholamine‐producing neuroblastoma

Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome

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