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A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 750, doi. 10.1210/clinem/dgad577
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- Publication type:
- Article
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3341, doi. 10.1210/clinem/dgac521
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- Publication type:
- Article
A hypercalcemic episode in an adolescent with autosomal dominant hypocalcemia.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening.
- Published in:
- 2023
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- Publication type:
- Case Study
Autonomously functioning thyroid nodule due to a somatic TSHR mutation.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15157
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- Publication type:
- Article
Complications of Listeria meningitis in two immunocompetent children.
- Published in:
- Pediatrics International, 2018, v. 60, n. 5, p. 491, doi. 10.1111/ped.13550
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- Publication type:
- Article
Endocrinopathies in Inborn Errors of Immunity.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.786241
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- Publication type:
- Article
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
- Published in:
- Biology of Sex Differences, 2016, v. 7, p. 1, doi. 10.1186/s13293-016-0114-6
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- Publication type:
- Article
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
- Published in:
- Patient Preference & Adherence, 2023, v. 17, p. 1885, doi. 10.2147/PPA.S417142
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- Publication type:
- Article
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63562
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- Publication type:
- Article
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 495, doi. 10.1002/ajmg.a.38020
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- Publication type:
- Article
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2425, doi. 10.1002/ajmg.a.37191
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- Publication type:
- Article
Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus.
- Published in:
- Modern Rheumatology Case Reports, 2023, v. 7, n. 1, p. 65, doi. 10.1093/mrcr/rxac057
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- Publication type:
- Article
Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young.
- Published in:
- Journal of Diabetes Investigation, 2019, v. 10, n. 6, p. 1586, doi. 10.1111/jdi.13046
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- Publication type:
- Article
Atypical coronary artery aneurysms due to Kawasaki disease in Noonan syndrome with a novel PTPN11 mutation.
- Published in:
- 2019
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- Publication type:
- journal article
A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality.
- Published in:
- Cardiology, 2019, v. 144, n. 1/2, p. 53, doi. 10.1159/000502972
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- Publication type:
- Article
Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Phenotypic Variation in 46,XX Disorders of Sex Development due to the <bold><italic>NR5A1 </italic></bold>p.R92W Variant: A Sibling Case Report and Literature Review.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 284, doi. 10.1159/000485868
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- Publication type:
- Article
Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 9, p. 989, doi. 10.1515/jpem-2017-0146
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- Publication type:
- Article
Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method.
- Published in:
- International Journal of Rheumatic Diseases, 2018, v. 21, n. 3, p. 746, doi. 10.1111/1756-185X.13223
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- Publication type:
- Article
FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice.
- Published in:
- FASEB Journal, 2014, v. 28, n. 5, p. 2020, doi. 10.1096/fj.13-246108
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- Publication type:
- Article
Venous thromboembolism in two adolescents with Down syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 4, p. 429, doi. 10.24953/turkjped.2018.04.012
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- Publication type:
- Article
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2223, doi. 10.1093/hmg/ddac023
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- Publication type:
- Article
Shared Decision-Making in Growth Hormone Therapy—Implications for Patient Care.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00688
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- Publication type:
- Article
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 166, doi. 10.1159/000486393
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- Publication type:
- Article
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) gene.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Type 1 diabetes mellitus associated with activated phosphatidylinositol 3‐kinase delta syndrome, type 2.
- Published in:
- 2018
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- Publication type:
- Case Study
Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30655
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- Publication type:
- Article
Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants.
- Published in:
- Endocrine (1355008X), 2020, v. 70, n. 1, p. 71, doi. 10.1007/s12020-020-02393-3
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- Publication type:
- Article
Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.
- Published in:
- Endocrine (1355008X), 2018, v. 61, n. 1, p. 76, doi. 10.1007/s12020-018-1595-3
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- Publication type:
- Article
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome.
- Published in:
- Pediatric Diabetes, 2019, v. 20, n. 7, p. 1035, doi. 10.1111/pedi.12895
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- Publication type:
- Article
Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 8, p. 917, doi. 10.1111/pedi.12508
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- Publication type:
- Article
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2022.1033074
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- Publication type:
- Article
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
- Published in:
- Endocrine Journal, 2022, v. 69, n. 1, p. 75, doi. 10.1507/endocrj.ej21-0292
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- Publication type:
- Article
Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 12, p. 1227, doi. 10.1507/endocrj.ej20-0203
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- Publication type:
- Article
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 8, p. 853, doi. 10.1507/endocrj.ej20-0011
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- Publication type:
- Article
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 3, p. 215, doi. 10.1507/endocrj.EJ18-0326
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- Publication type:
- Article
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
- Published in:
- Endocrine Journal, 2016, v. 63, n. 11, p. 983, doi. 10.1507/endocrj.ej16-0194
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- Publication type:
- Article
Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 2, p. 149, doi. 10.1507/endocrj.ej12-0123
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- Publication type:
- Article
Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life.
- Published in:
- Endocrine Journal, 2012, v. 59, n. 11, p. 1001, doi. 10.1507/endocrj.ej12-0036
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- Publication type:
- Article
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 3, p. 187, doi. 10.1297/cpe.2024-0004
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- Publication type:
- Article
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 116, doi. 10.1297/cpe.2022-0009
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- Publication type:
- Article
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 155, doi. 10.1297/cpe.30.155
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- Publication type:
- Article
Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 3, p. 149, doi. 10.1297/cpe.30.149
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- Publication type:
- Article
Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 2, p. 85, doi. 10.1297/cpe.29.85
- By:
- Publication type:
- Article
Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases.
- Published in:
- Clinical Pediatric Endocrinology, 2019, v. 28, n. 4, p. 105, doi. 10.1297/cpe.28.105
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- Publication type:
- Article
Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age.
- Published in:
- Clinical Pediatric Endocrinology, 2018, v. 27, n. 1, p. 31, doi. 10.1297/cpe.27.31
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- Publication type:
- Article
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 4, p. 207, doi. 10.1297/cpe.26.207
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- Publication type:
- Article
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. 39, doi. 10.1002/humu.23116
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- Publication type:
- Article
Cover Image, Volume 38, Issue 1.
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. i, doi. 10.1002/humu.23151
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- Publication type:
- Article