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Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma".
- Published in:
- 2020
- By:
- Publication type:
- Letter
A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome.
- Published in:
- Children, 2023, v. 10, n. 7, p. 1150, doi. 10.3390/children10071150
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- Publication type:
- Article
PRKAR1A deficiency impedes hypertrophy and reduces heart size.
- Published in:
- Physiological Reports, 2020, v. 8, n. 6, p. 1, doi. 10.14814/phy2.14405
- By:
- Publication type:
- Article
Rieger's Anomaly and Other Ocular Abnormalities in Association with Osteogenesis Imperfecta and a COL1A1 Mutation.
- Published in:
- Ophthalmic Genetics, 2005, v. 26, n. 3, p. 135, doi. 10.1080/13816810500228993
- By:
- Publication type:
- Article
Adrenal hyperplasias in childhood: An update.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.937793
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- Publication type:
- Article
Adrenocortical tumors: Recent advances in basic concepts and clinical management.
- Published in:
- Annals of Internal Medicine, 1999, v. 130, n. 9, p. 759, doi. 10.7326/0003-4819-130-9-199905040-00017
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- Publication type:
- Article
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
- Published in:
- PLoS Neglected Tropical Diseases, 2021, v. 15, n. 6, p. 1, doi. 10.1371/journal.pntd.0009507
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- Publication type:
- Article
FDG PET/CT Scan and Functional Adrenal Tumors: A Pilot Study for Lateralization.
- Published in:
- World Journal of Surgery, 2016, v. 40, n. 3, p. 683, doi. 10.1007/s00268-015-3242-y
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- Publication type:
- Article
Adrenal cortex and microRNAs.
- Published in:
- Cell Cycle, 2010, v. 9, n. 20, p. 4039, doi. 10.4161/cc.9.20.13626
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- Publication type:
- Article
Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 89, doi. 10.1038/79238
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- Publication type:
- Article
Called and Uncalled for Functions of the Main Catalytic Subunit of Protein Kinase A: One Enzyme, Many Faces.
- Published in:
- Endocrinology, 2019, v. 160, n. 7, p. 1674, doi. 10.1210/en.2019-00290
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- Publication type:
- Article
Genetics of Hypertension in African Americans and Others of African Descent.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 5, p. 1081, doi. 10.3390/ijms20051081
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- Publication type:
- Article
New Genetic Insights in Familial Hyperaldosteronism.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 970, n. 1, p. 77, doi. 10.1111/j.1749-6632.2002.tb04414.x
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- Publication type:
- Article
Protein Kinase A Signaling.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 968, n. 1, p. 256, doi. 10.1111/j.1749-6632.2002.tb04340.x
- By:
- Publication type:
- Article
Cyclic AMP-Dependent Signaling Aberrations in Macronodular Adrenal Disease.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 968, n. 1, p. 240, doi. 10.1111/j.1749-6632.2002.tb04339.x
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- Publication type:
- Article
Mutations of the Gene Encoding the Protein Kinase A Type I-α Regulatory Subunit ( PRKAR1A) in Patients with the 'Complex of Spotty Skin Pigmentation, Myxomas, Endocrine Overactivity, and Schwannomas' (Carney Complex).
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 968, n. 1, p. 3, doi. 10.1111/j.1749-6632.2002.tb04323.x
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- Publication type:
- Article
Protein Kinase A and Chromosomal Stability.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 968, n. 1, p. 148, doi. 10.1111/j.1749-6632.2002.tb04333.x
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- Publication type:
- Article
Preface.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 968, n. 1, p. vii, doi. 10.1111/j.1749-6632.2002.tb04321.x
- By:
- Publication type:
- Article
Management of primary aldosteronism in patients with adrenal hemorrhage following adrenal vein sampling: A brief review with illustrative cases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
An update on, and genetics of refractory adenomas of childhood.
- Published in:
- Pituitary, 2023, v. 26, n. 3, p. 281, doi. 10.1007/s11102-023-01327-2
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- Publication type:
- Article
Cushing's disease in children: unique features and update on genetics.
- Published in:
- Pituitary, 2022, v. 25, n. 5, p. 764, doi. 10.1007/s11102-022-01237-9
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- Publication type:
- Article
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil.
- Published in:
- Pituitary, 2021, v. 24, n. 2, p. 252, doi. 10.1007/s11102-020-01105-4
- By:
- Publication type:
- Article
Pituitary pathology in patients with Carney Complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities.
- Published in:
- Pituitary, 2006, v. 9, n. 3, p. 203, doi. 10.1007/s11102-006-0265-2
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- Publication type:
- Article
Pituitary Pathology in Carney Complex Patients.
- Published in:
- Pituitary, 2004, v. 7, n. 2, p. 73, doi. 10.1007/s11102-005-5348-y
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- Publication type:
- Article
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 468, doi. 10.4274/jcrpe.2539
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- Publication type:
- Article
Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 8, p. 911, doi. 10.1515/jpem-2019-0055
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- Publication type:
- Article
Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 837, doi. 10.1515/jpem-2013-0369
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- Publication type:
- Article
Pituitary stalk lesion in a 13-year-old female.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 3/4, p. 359, doi. 10.1515/jpem-2013-0274
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- Publication type:
- Article
Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 1/2, p. 221, doi. 10.1515/jpem-2011-0364
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- Publication type:
- Article
Lack of mutations in the gene coding for the hGR ( NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 1/2, p. 213, doi. 10.1515/jpem.2011.371
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- Publication type:
- Article
Cushing's Syndrome Secondary to isolated Micronodular Adrenocotrical Disease (iMAD) associated with Rapid Onset Weight Gain and Negative Abdominal MRI Findings in a 3 yea old Male.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 6, p. 613, doi. 10.1515/jpem.2010.101
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- Publication type:
- Article
An Unusual Presentation of Pediatric Cushing Disease: Recurrent Corticotropinoma of the Posterior Pituitary Lobe.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 6, p. 607, doi. 10.1515/jpem.2010.100
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- Publication type:
- Article
Facial Metrics in Children with Corticotrophin-Producing Pituitary Adenomas Suggest Abnormalities in Midface Development.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 1, p. 47, doi. 10.1515/JPEM.2009.22.1.47
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- Publication type:
- Article
Short Stature in Partially Corrected X-linked Severe Combined Immunodeficiency - Suboptimal Response to Growth Hormone.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 11, p. 1057, doi. 10.1515/JPEM.2008.21.11.1057
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- Publication type:
- Article
Body Image in Adolescents with Disorders of Steroidogenesis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 8, p. 771, doi. 10.1515/jpem.2008.21.8.771
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- Publication type:
- Article
Dan F. Gunther (1958-2007): Dedicated Pediatric Endocrinologist, Astute Clinician and Exceptional Person.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 11, p. 1157
- By:
- Publication type:
- Article
Successful Treatment of an Invasive Growth Hormone-Secreting Pituitary Macroadenoma in an 8 Year-old Boy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 5, p. 643, doi. 10.1515/jpem.2007.20.5.643
- By:
- Publication type:
- Article
The Adrenal Life Cycle: The Fetal and Adult Cortex and the Remaining Questions.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, n. 11, p. 1299, doi. 10.1515/jpem.2006.19.11.1299
- By:
- Publication type:
- Article
The Human Vitamin D Receptor Gene ( VDR) Is Localized to Region 12cen-q12 by Fluorescent In Situ Hybridization and Radiation Hybrid Mapping: Genetic and Physical VDR Map.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 7, p. 1163, doi. 10.1359/jbmr.1999.14.7.1163
- By:
- Publication type:
- Article
Cyclic AMP‐dependent protein kinase catalytic subunit A (PRKACA): the expected, the unexpected, and what might be next.
- Published in:
- Journal of Pathology, 2018, v. 244, n. 3, p. 257, doi. 10.1002/path.5014
- By:
- Publication type:
- Article
Cushing's Syndrome and Fetal Features Resurgence in Adrenal Cortex-Specific Prkar1a Knockout Mice.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1000980
- By:
- Publication type:
- Article
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A ( PRKAR1A): an update.
- Published in:
- 2010
- By:
- Publication type:
- Other
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 633, doi. 10.1002/humu.20688
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- Publication type:
- Article
Genetic heterogeneity in Peutz-Jeghers syndrome.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 23, doi. 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M
- By:
- Publication type:
- Article
Mutation analyses of North American APS-1 patients.
- Published in:
- Human Mutation, 1999, v. 13, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6
- By:
- Publication type:
- Article
Younger age and early puberty are associated with cognitive function decline in children with Cushing disease.
- Published in:
- Clinical Endocrinology, 2022, v. 96, n. 4, p. 569, doi. 10.1111/cen.14611
- By:
- Publication type:
- Article
Paediatric patients with Cushing disease and negative pituitary MRI have a higher risk of nonremission after transsphenoidal surgery.
- Published in:
- Clinical Endocrinology, 2021, v. 95, n. 6, p. 856, doi. 10.1111/cen.14560
- By:
- Publication type:
- Article
Recovery of hypothalamic‐pituitary‐adrenal axis in paediatric Cushing disease.
- Published in:
- Clinical Endocrinology, 2021, v. 94, n. 1, p. 40, doi. 10.1111/cen.14300
- By:
- Publication type:
- Article
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.
- Published in:
- Clinical Endocrinology, 2018, v. 89, n. 4, p. 437, doi. 10.1111/cen.13796
- By:
- Publication type:
- Article
Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.
- Published in:
- Clinical Endocrinology, 2016, v. 85, n. 6, p. 845, doi. 10.1111/cen.13132
- By:
- Publication type:
- Article