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Small adenocarcinoma of the lung: Prognostic significance of central fibrosis chiefly because of its association with angiogenesis and lymphangiogenesis.
- Published in:
- Pathology International, 2006, v. 56, n. 9, p. 494, doi. 10.1111/j.1440-1827.2006.01997.x
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- Publication type:
- Article
Proximal Renal Tubular Acidosis Associated with Glycogen Storage Disease, Type 9.
- Published in:
- Acta Paediatrica, 1988, v. 77, n. 3, p. 460, doi. 10.1111/j.1651-2227.1988.tb10681.x
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- Publication type:
- Article
Polymorphisms at the 50 end of the human gonadotropin-releasing hormone receptor gene are not associated with the timing of menarche in Japanese girls.
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- European Journal of Endocrinology, 2000, v. 143, n. 4, p. 555
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- Publication type:
- Article
Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 8, p. e1602, doi. 10.1210/clinem/dgad753
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- Publication type:
- Article
Endoplasmic Reticulum (ER) Stress and Endocrine Disorders.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 382, doi. 10.3390/ijms18020382
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- Publication type:
- Article
Graves' disease as an emerging complication of MIRAGE syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
Uric acid and dehydration in children with gastroenteritis.
- Published in:
- Pediatrics International, 2017, v. 59, n. 11, p. 1151, doi. 10.1111/ped.13366
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- Publication type:
- Article
Neonatal necrotizing fasciitis of the scrotum caused by Streptococcus agalactiae.
- Published in:
- Pediatrics International, 2015, v. 57, n. 2, p. e56, doi. 10.1111/ped.12563
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- Publication type:
- Article
Idiopathic mitral valve chordae rupture in an infant: Importance of rapid diagnosis and surgery.
- Published in:
- Pediatrics International, 2015, v. 57, n. 2, p. e65, doi. 10.1111/ped.12568
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- Publication type:
- Article
Case of an infant with hepatic cirrhosis caused by mitochondrial respiratory chain disorder.
- Published in:
- Pediatrics International, 2013, v. 55, n. 4, p. e103, doi. 10.1111/ped.12098
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- Publication type:
- Article
Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 5, doi. 10.1046/j.1442-200X.2003.01662.x
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- Publication type:
- Article
Infrequent voiding in nephrogenic diabetes insipidus as a cause of renal failure.
- Published in:
- 2002
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- Publication type:
- Case Study
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 11, p. 609, doi. 10.1038/jhg.2014.79
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- Publication type:
- Article
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 454, doi. 10.1007/s10038-008-0269-z
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- Publication type:
- Article
Stippled calcification in an infant with a recurrent SRCAP gene mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1088, doi. 10.1002/ajmg.a.37516
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- Publication type:
- Article
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 795, doi. 10.1002/ajmg.a.37481
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- Publication type:
- Article
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2851, doi. 10.1002/ajmg.a.37231
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- Publication type:
- Article
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1627, doi. 10.1002/ajmg.a.37051
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- Publication type:
- Article
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1171, doi. 10.1002/ajmg.a.36996
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- Publication type:
- Article
Performance evaluation of ultra-large-scale first-principles electronic structure calculation code on the K computer.
- Published in:
- International Journal of High Performance Computing Applications, 2014, v. 28, n. 3, p. 335, doi. 10.1177/1094342013508163
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- Publication type:
- Article
Nebulized hypertonic saline in infants hospitalized with moderately severe bronchiolitis due to RSV infection: A multicenter randomized controlled trial.
- Published in:
- Pediatric Pulmonology, 2018, v. 53, n. 3, p. 358, doi. 10.1002/ppul.23945
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- Publication type:
- Article
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.
- Published in:
- Pediatric Radiology, 2015, v. 45, n. 8, p. 1239, doi. 10.1007/s00247-015-3292-1
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- Publication type:
- Article
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A Phase I/II Study of Biweekly Carboplatin and Nab-paclitaxel With Concurrent Radiotherapy for Patients With Locally Advanced Unresectable Stage III Non-small-cell Lung Cancer.
- Published in:
- 2021
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- Publication type:
- journal article
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046008
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- Publication type:
- Article
Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1723, doi. 10.1210/jc.2008-2816
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- Publication type:
- Article
Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3359, doi. 10.1210/jc.2003-032091
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- Publication type:
- Article
Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2905, doi. 10.1210/jc.2003-031828
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- Publication type:
- Article
Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 6, p. 2905, doi. 10.1210/jc.2003-031828
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- Publication type:
- Article
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 11, p. 4957, doi. 10.1210/jc.2002-021105xt ko
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- Publication type:
- Article
PTPN11 (Protein-Tyrosine Phosphatase, NonreceptorType 11) Mutations in Seven Japanese Patients with Noonan Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3529, doi. 10.1210/jcem.87.8.8694
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- Publication type:
- Article
Hydrochlorothiazide Effectively Reduces Urinary Calcium Excretion in Two Japanese Patients with Gain-of-Function Mutations of the Calcium-Sensing Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 7, p. 3068, doi. 10.1210/jcem.87.7.8639
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- Publication type:
- Article
Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5498, doi. 10.1210/jcem.86.11.8058
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- Publication type:
- Article
Identification of Novel Human GH-1 Gene Polymorphisms that Are Associated with Growth Hormone Secretion and Height.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 3, p. 1290, doi. 10.1210/jcem.85.3.6468
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- Publication type:
- Article
Serum Levels of 20-Kilodalton Human Growth Hormone (GH) Are Parallel Those of 22-Kilodalton Human GH in Normal and Short Children.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 1, p. 98, doi. 10.1210/jcem.84.1.5402
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- Publication type:
- Article
High Ratios of Free to Total Insulin-Like Growth Factor-I in Early Infancy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 1, p. 156, doi. 10.1210/jcem.82.1.3679
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- Publication type:
- Article
Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas.
- Published in:
- Journal of Molecular Medicine, 2008, v. 86, n. 10, p. 1171, doi. 10.1007/s00109-008-0377-4
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- Publication type:
- Article
Role of Liquid–Liquid Separation in Endocrine and Living Cells.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 10, p. 1, doi. 10.1210/jendso/bvab126
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- Publication type:
- Article
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 108, doi. 10.1007/s004390051017
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- Publication type:
- Article
Clitoral preputial edema can be mistaken for clitoromegaly: a clinical analysis of ten cases.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1175611
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- Publication type:
- Article
Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1051695
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- Publication type:
- Article
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.
- Published in:
- Sexual Development, 2018, v. 12, n. 4, p. 175, doi. 10.1159/000489451
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- Publication type:
- Article
The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 185, doi. 10.1159/000448677
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- Publication type:
- Article
Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1191, doi. 10.1515/jpem-2020-0678
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- Publication type:
- Article
Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 2, p. 127, doi. 10.1530/EJE-16-0194
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- Publication type:
- Article
Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations.
- Published in:
- European Journal of Endocrinology, 2016, v. 174, n. 6, p. C1, doi. 10.1530/eje-16-0111
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- Publication type:
- Article
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 1, p. 37, doi. 10.1530/EJE-14-0255
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- Publication type:
- Article
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
- Published in:
- Endocrinology, 2023, v. 164, n. 2, p. 1, doi. 10.1210/endocr/bqac198
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- Publication type:
- Article
Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney‐urinary tract in pediatric Turner syndrome.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 6, p. 175, doi. 10.1111/cga.12384
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- Publication type:
- Article
Achondroplasia and enchondromatosis: report of three boys.
- Published in:
- Skeletal Radiology, 2007, v. 36, n. 0, p. 29
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- Publication type:
- Article