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Disproportionate stature but normal height in hypochondroplasia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1323, doi. 10.1210/jc.2004-1300
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- Publication type:
- Article
In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120463
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- Publication type:
- Article
Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073288
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- Publication type:
- Article
CYP17A1 Intron Mutation Causing Cryptic Splicing in 17&agr;-Hydroxylase Deficiency.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025492
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- Publication type:
- Article
Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1301, doi. 10.1210/jc.2009-1176
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- Publication type:
- Article
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
- Published in:
- 2009
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- Publication type:
- journal article
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1418, doi. 10.1210/jc.2007-1874
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- Publication type:
- Article
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
- Published in:
- 2006
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- Publication type:
- journal article
Elucidating the Underlying Molecular Pathogenesis of NR3C2 Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 11, p. 4552, doi. 10.1210/jc.2006-1161
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- Publication type:
- Article
Recurrence of the R947X Mutation in Unrelated Families with Autosomal Dominant Pseudohypoaldosteronism Type 1: Evidence for a Mutational Hot Spot in the Mineralocorticoid Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 9, p. 3671, doi. 10.1210/jc.2006-0605
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- Publication type:
- Article
Analyzing the Functional and Structural Consequences of Two Point Mutations (P94L and A368D) in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia Resulting from 11-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 7, p. 2682, doi. 10.1210/jc.2006-0209
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- Publication type:
- Article
Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3724, doi. 10.1210/jc.2005-0089
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- Publication type:
- Article
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1323, doi. 10.1210/jc.2004-1300
- By:
- Publication type:
- Article
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 5, p. 2150, doi. 10.1210/jc.2003-031555
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- Publication type:
- Article
Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1683, doi. 10.1210/jc.2002-021556
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- Publication type:
- Article
Longitudinal Imaging Reveals Pituitary Enlargement Preceding Hypoplasia in Two Brothers with Combined Pituitary Hormone Deficiency Attributable to PROP1 Mutation.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4353, doi. 10.1210/jcem.86.9.7828
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- Publication type:
- Article
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 7, p. 561, doi. 10.1007/s00109-005-0655-3
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- Publication type:
- Article
46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene.
- Published in:
- Sexual Development, 2014, v. 8, n. 4, p. 151, doi. 10.1159/000363201
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- Publication type:
- Article
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 610, doi. 10.1038/ejhg.2013.197
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- Publication type:
- Article
Frequency and characterization of DNA methylation defects in children born SGA.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 838, doi. 10.1038/ejhg.2012.262
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- Publication type:
- Article
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 5, p. 697, doi. 10.1530/EJE-13-0737
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- Publication type:
- Article
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 5, p. 707, doi. 10.1530/EJE-12-1000
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- Publication type:
- Article
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
- Published in:
- European Journal of Endocrinology, 2005, v. 152, n. 4, p. 515, doi. 10.1530/eje.1.01879
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- Publication type:
- Article
17-Alpha Hydroxylase Deficiency: A Rare Case of Primary Amenorrhea and Hypertension.
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- Turkish Journal of Endocrinology & Metabolism, 2014, v. 18, n. 4, p. 137, doi. 10.4274/tjem.2415
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- Publication type:
- Article
Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 5, p. 336, doi. 10.1159/000495189
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- Publication type:
- Article
17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 5, p. 350, doi. 10.1159/000357065
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- Publication type:
- Article
The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 3, p. 163, doi. 10.1159/000354086
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- Publication type:
- Article
Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 1, p. 22, doi. 10.1159/000346406
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- Publication type:
- Article
Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 3, p. 195, doi. 10.1159/000337974
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- Publication type:
- Article
Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 2, p. 100, doi. 10.1159/000336344
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- Publication type:
- Article
Serum Concentrations of Adrenal Steroids and Their Precursors as a Measure of Maturity of Adrenocortical Function in Very Premature Newborns.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 74, n. 5, p. 358, doi. 10.1159/000314970
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- Publication type:
- Article
Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families.
- Published in:
- American Journal of Nephrology, 2007, v. 27, n. 2, p. 164, doi. 10.1159/000100107
- By:
- Publication type:
- Article
Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E443, doi. 10.1002/humu.20926
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- Publication type:
- Article
Critical Points in the Management of Pseudohypoaldosteronism Type 1.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
The Increased Lysis of Fetal Cells in the Mother after Pregnancies Complicated by Pre-eclampsia or HELLP Syndrome is not the Result of a Specific Anti-fetal Cytotoxicity of the Mother.
- Published in:
- American Journal of Reproductive Immunology, 2004, v. 51, n. 2, p. 174, doi. 10.1046/j.8755-8920.2003.00141.x
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- Publication type:
- Article
The Cellular Immune Response of Children is Specifically Decreased Against their Parents but not Vice versa, Independent of Pregnancy, age, or HLA or HY Antigens.
- Published in:
- American Journal of Reproductive Immunology, 2003, v. 49, n. 5, p. 255, doi. 10.1034/j.1600-0897.2003.00036.x
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- Publication type:
- Article
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel.
- Published in:
- Clinical Endocrinology, 2009, v. 70, n. 2, p. 252, doi. 10.1111/j.1365-2265.2008.03314.x
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- Publication type:
- Article