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Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
- Published in:
- 2021
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- Publication type:
- journal article
Adrenal Dysfunction in Mitochondrial Diseases.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1126, doi. 10.3390/ijms24021126
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- Publication type:
- Article
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 3, p. 814, doi. 10.1172/JCI60224
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- Publication type:
- Article
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 740, doi. 10.1038/ng.2299
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- Publication type:
- Article
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
- Published in:
- Nature Genetics, 2005, v. 37, n. 2, p. 166, doi. 10.1038/ng1501
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- Publication type:
- Article
NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
- Published in:
- 2014
- By:
- Publication type:
- journal article
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).
- Published in:
- 2012
- By:
- Publication type:
- journal article
Severe Cortisol Deficiency Associated with Reversible Growth Hormone Deficiency in Two Infants: What Is the Link?
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. 2670, doi. 10.1210/jc.2011-0129
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- Publication type:
- Article
Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 5, p. 509, doi. 10.1159/000535528
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- Publication type:
- Article
Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon. .
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3542, doi. 10.1210/jc.2009-1968
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- Publication type:
- Article
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
The TPIT Gene Mutation M86R Associated with Isolated Adrenocorticotropin Deficiency Interferes with Protein: Protein Interactions.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 10, p. 3991, doi. 10.1210/jc.2007-0284
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- Publication type:
- Article
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac020
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- Publication type:
- Article
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
- Published in:
- European Journal of Endocrinology, 2023, v. 188, n. 4, p. 353, doi. 10.1093/ejendo/lvad039
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- Publication type:
- Article
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.
- Published in:
- European Journal of Endocrinology, 2020, v. 182, n. 3, p. k15, doi. 10.1530/EJE-19-0696
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- Publication type:
- Article
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 6, p. 485, doi. 10.1530/EJE-17-0453
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- Publication type:
- Article
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 2, p. 151, doi. 10.1530/EJE-14-0541
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- Publication type:
- Article
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
- Published in:
- European Journal of Endocrinology, 2007, v. 157, p. S33, doi. 10.1530/EJE-07-0292
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- Publication type:
- Article
Novel Growth Hormone Receptor Mutation in a Chinese Patient with Laron Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 2, p. 209, doi. 10.1515/jpem.2005.18.2.209
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- Publication type:
- Article
MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation.
- Published in:
- FASEB Journal, 2018, v. 32, n. 11, p. 6186, doi. 10.1096/fj.201701274RR
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- Publication type:
- Article
Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 2, p. 115, doi. 10.1159/000277629
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- Publication type:
- Article
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04521-0
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- Publication type:
- Article
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.860055
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- Publication type:
- Article
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
- Published in:
- Endocrine Reviews, 2019, v. 40, n. 2, p. 476, doi. 10.1210/er.2018-00146
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- Publication type:
- Article
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
- Published in:
- 2018
- By:
- Publication type:
- journal article
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1074, doi. 10.1002/humu.23046
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- Publication type:
- Article
Whole-exome sequencing in the differential diagnosis of primary adrenal insufficiency in children.
- Published in:
- Frontiers in Endocrinology, 2015, p. 1, doi. 10.3389/fendo.2015.00113
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- Publication type:
- Article
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.
- Published in:
- 2021
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- Publication type:
- Case Study
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
- Published in:
- Clinical Endocrinology, 2010, v. 72, n. 5, p. 589, doi. 10.1111/j.1365-2265.2009.03663.x
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- Publication type:
- Article
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
- Published in:
- Clinical Endocrinology, 2009, v. 71, n. 2, p. 171, doi. 10.1111/j.1365-2265.2008.03511.x
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- Publication type:
- Article
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 2, p. 168, doi. 10.1111/j.1365-2265.2007.02855.x
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- Publication type:
- Article
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
- Published in:
- Clinical Endocrinology, 2007, v. 66, n. 2, p. 205, doi. 10.1111/j.1365-2265.2006.02709.x
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- Publication type:
- Article
Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity.
- Published in:
- Clinical Endocrinology, 2002, v. 57, n. 3, p. 357, doi. 10.1046/j.1365-2265.2002.01607.x
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- Publication type:
- Article
Tall stature in familial glucocorticoid deficiency.
- Published in:
- Clinical Endocrinology, 2000, v. 53, n. 4, p. 423, doi. 10.1046/j.1365-2265.2000.01122.x
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- Publication type:
- Article