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GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review

Endocrine Journal, 2019, Vol.66(5), pp.403-408

2019

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Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy

Children (Basel), 2023-04, Vol.10 (4), p.703

2023

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Shprintzen–Goldberg syndrome associated with first cervical vertebra defects

Pediatrics international, 2017-10, Vol.59 (10), p.1098-1100

2017

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Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease

Pediatrics international, 2018-03, Vol.60 (3), p.307-308

2018

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GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation : pediatric case report and review

ENDOCRINE JOURNAL, 2019, Vol.66 (5), p.403-408

2019

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A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset

Pediatrics and neonatology, 2020-02, Vol.61 (1), p.114-116

2020

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Decrease in Serum Adiponectin Level Due to Obesity and Visceral Fat Accumulation in Children

Obesity (Silver Spring, Md.), 2003-09, Vol.11 (9), p.1072-1079

2003

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A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation

Pediatrics and neonatology, 2018-06, Vol.59 (3), p.319-321

2018

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Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases

Case reports in psychiatry, 2019, Vol.2019 (2019), p.1-6

2019

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6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment

Pediatrics international, 2013-06, Vol.55 (3), p.376-381

2013

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A Knotted Elemental Diet Tube in a Neonate: Serial Radiographs Demonstrating the Process of Loop Formation

Pediatrics and neonatology, 2016-12, Vol.57 (6), p.544-545

2016

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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 )

Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877

2022

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Increased Serum Cholesteryl Ester Transfer Protein in Obese Children

Obesity (Silver Spring, Md.), 2002-06, Vol.10 (6), p.439-446

2002

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Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging

Pediatrics and neonatology, 2019-08, Vol.60 (4), p.461-462

2019

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Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency

Pediatrics and neonatology, 2019-08, Vol.60 (4), p.475-476

2019

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Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1222-1224

2018

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Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene

Journal of Pediatric Endocrinology and Metabolism, 2017-08, Vol.30 (9), p.1007

2017

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GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review

Endocrine Journal, 2019, pp.EJ18-0370

2019

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

Journal of human genetics, 2022-09, Vol.67 (9), p.505-513

2022

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Total energy intake accounts for postnatal anthropometric growth in moderately/late preterm infants

The journal of maternal-fetal & neonatal medicine, 2017-05, Vol.30 (9), p.1080-1084

2017

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Hyperechoic renal medullary pyramids in a boy with Simpson–Golabi–Behmel syndrome

Clinical dysmorphology, 2018-01, Vol.27 (1), p.25-26

2018

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Inflammatory mediator ultra-low-molecular-weight hyaluronan triggers necrosis of B-precursor leukemia cells with high surface CD44 expression

Cell death & disease, 2017-06, Vol.8 (6), p.e2857-e2857

2017

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Increased peroxisomal fatty acid beta-oxidation and enhanced expression of peroxisome proliferator-activated receptor-alpha in diabetic rat liver

Molecular and cellular biochemistry, 1999-04, Vol.194 (1-2), p.227-234

1999

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Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets

Pediatric blood & cancer, 2015-12, Vol.62 (12), p.2082-2088

2015

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GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review

Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy

Shprintzen–Goldberg syndrome associated with first cervical vertebra defects

Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease

GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation : pediatric case report and review

A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset

Decrease in Serum Adiponectin Level Due to Obesity and Visceral Fat Accumulation in Children

A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation

Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases

6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment

A Knotted Elemental Diet Tube in a Neonate: Serial Radiographs Demonstrating the Process of Loop Formation

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 )

Increased Serum Cholesteryl Ester Transfer Protein in Obese Children

Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging

Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome

Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene

GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review

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

Total energy intake accounts for postnatal anthropometric growth in moderately/late preterm infants

Hyperechoic renal medullary pyramids in a boy with Simpson–Golabi–Behmel syndrome

Inflammatory mediator ultra-low-molecular-weight hyaluronan triggers necrosis of B-precursor leukemia cells with high surface CD44 expression

Increased peroxisomal fatty acid beta-oxidation and enhanced expression of peroxisome proliferator-activated receptor-alpha in diabetic rat liver

Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets

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