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Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis.
- Published in:
- Molecular Human Reproduction, 2001, v. 7, n. 5, p. 409, doi. 10.1093/molehr/7.5.409
- By:
- Publication type:
- Article
Female gonadal development in XX patients with distal 9p monosomy.
- Published in:
- European Journal of Endocrinology, 2001, v. 145, n. 5, p. 613, doi. 10.1530/eje.0.1450613
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- Publication type:
- Article
Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2358, doi. 10.1210/clinem/dgae098
- By:
- Publication type:
- Article
Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2990, doi. 10.1210/clinem/dgad230
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- Publication type:
- Article
Very long‐chain acyl‐CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.
- Published in:
- Pediatrics International, 2021, v. 63, n. 8, p. 992, doi. 10.1111/ped.14666
- By:
- Publication type:
- Article
Neonatal case of classic maple syrup urine disease: Usefulness of <sup>1</sup>H-MRS in early diagnosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 1, p. 112, doi. 10.1111/ped.12211
- By:
- Publication type:
- Article
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53
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- Publication type:
- Article
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 353, doi. 10.1038/jhg.2014.34
- By:
- Publication type:
- Article
Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Noonan syndrome‐like phenotype associated with an ERF frameshift variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63652
- By:
- Publication type:
- Article
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1067, doi. 10.1002/ajmg.a.62063
- By:
- Publication type:
- Article
SHOX far‐downstream copy‐number variations involving cis‐regulatory nucleotide variants in two sisters with Leri‐Weill dyschondrosteosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1778, doi. 10.1002/ajmg.a.61275
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- Publication type:
- Article
Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2834, doi. 10.1002/ajmg.a.38368
- By:
- Publication type:
- Article
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2430, doi. 10.1002/ajmg.a.37193
- By:
- Publication type:
- Article
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1982, doi. 10.1002/ajmg.a.35440
- By:
- Publication type:
- Article
PAX8 Mutation Disturbing Thyroid Follicular Growth: A Case Report.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. E2039, doi. 10.1210/jc.2011-1114
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- Publication type:
- Article
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. E1838, doi. 10.1210/jc.2011-1573
- By:
- Publication type:
- Article
Nonclassic TSH Resistance: TSHR Mutation Carriers with Discrepantly High Thyroidal Iodine Uptake.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1340, doi. 10.1210/jc.2011-0070
- By:
- Publication type:
- Article
Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors—a high Apo B level and increased small dense LDL-cholesterol.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 6, p. 669, doi. 10.1007/s00381-009-0837-3
- By:
- Publication type:
- Article
Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060105
- By:
- Publication type:
- Article
Individual Variation of the Genetic Response to Bisphenol A in Human Foreskin Fibroblast Cells Derived from Cryptorchidism and Hypospadias Patients.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052756
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Identification of Novel Low-Dose Bisphenol A Targets in Human Foreskin Fibroblast Cells Derived from Hypospadias Patients.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036711
- By:
- Publication type:
- Article
Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 4, p. 1981, doi. 10.1210/jc.2009-2373
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- Publication type:
- Article
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 756, doi. 10.1210/jc.2009-1334
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- Publication type:
- Article
TSHR Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 4, p. 1317, doi. 10.1210/jc.2008-1767
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- Publication type:
- Article
Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 920, doi. 10.1210/jc.2007-1419
- By:
- 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
Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5498, doi. 10.1210/jcem.86.11.8058
- By:
- Publication type:
- Article
Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5372, doi. 10.1210/jcem.86.11.7999
- By:
- Publication type:
- Article
Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3094, doi. 10.1210/jcem.85.9.6771
- By:
- Publication type:
- Article
Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4613, doi. 10.1210/jcem.84.12.6289
- By:
- Publication type:
- Article
Acid–Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 12, p. 1, doi. 10.1210/jendso/bvac147
- By:
- Publication type:
- Article
Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac021
- By:
- Publication type:
- Article
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
- By:
- Publication type:
- Article
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042
- By:
- Publication type:
- Article
A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Questions.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis: Answers.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 12, p. 4071, doi. 10.1007/s00467-021-05190-w
- By:
- Publication type:
- Article
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
- Published in:
- Thyroid, 2024, v. 34, n. 7, p. 827, doi. 10.1089/thy.2024.0046
- By:
- Publication type:
- Article
Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 130, doi. 10.1159/000380842
- By:
- Publication type:
- Article
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1335, doi. 10.1515/jpem-2020-0198
- By:
- Publication type:
- Article
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 191, doi. 10.1515/jpem-2018-0464
- By:
- Publication type:
- Article
Growth Hormone Response to GH-Releasing Peptide-2 in Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 5, p. 473, doi. 10.1515/jpem.2010.078
- By:
- Publication type:
- Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 2, p. 137, doi. 10.1530/EJE-16-1049
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 5, p. 625, doi. 10.1530/EJE-12-0410
- By:
- Publication type:
- Article