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Prevalence of hearing loss in pseudohypoparathyroidism.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03299-3
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- Article
Metabolically healthy obesity in adults with X-linked hypophosphatemia.
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- European Journal of Endocrinology, 2024, v. 191, n. 2, p. 156, doi. 10.1093/ejendo/lvae089
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- Article
X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.
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- Pediatric Nephrology, 2023, v. 38, n. 3, p. 697, doi. 10.1007/s00467-022-05636-9
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- Article
Dental and craniofacial features associated with GNAS loss of function mutations.
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- European Journal of Orthodontics, 2020, v. 42, n. 5, p. 525, doi. 10.1093/ejo/cjz084
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- Article
Hydrolyzed Rice Protein-Based Formulas, a Vegetal Alternative in Cow's Milk Allergy.
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- Nutrients, 2020, v. 12, n. 9, p. 2654, doi. 10.3390/nu12092654
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- Article
Young XLH Patients-Reported Experience with a Supportive Care Program.
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- Patient Preference & Adherence, 2023, v. 17, p. 1393, doi. 10.2147/PPA.S391025
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- Article
Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1711, doi. 10.1002/jbmr.4647
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- Article
Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 11, p. 2171, doi. 10.1002/jbmr.4130
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- Article
Hyperparathyroidism in Patients With X‐Linked Hypophosphatemia.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 7, p. 1263, doi. 10.1002/jbmr.3992
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- Article
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X‐Linked Hypophosphatemic Rickets (XLHR).
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 490, doi. 10.1002/jbmr.3614
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- Article
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 8, p. 1480, doi. 10.1002/jbmr.3450
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- Article
Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 4, p. 796, doi. 10.1002/jbmr.2731
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- Publication type:
- Article
Autosomal-Dominant Pseudohypoparathyroidism Type Ib is Caused by Different Microdeletions Within or Upstream of the GNAS Locus.
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- Annals of the New York Academy of Sciences, 2006, v. 1068, n. 1, p. 250, doi. 10.1196/annals.1346.029
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- Article
Abstract 102: Once-weekly somapacitan versus daily growth hormone in children born small for gestational age: 1-year results from a randomised phase 2 trial.
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- Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 44, doi. 10.4103/2230-8210.363604
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- Article
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
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- Clinical Epigenetics, 2015, v. 7, p. 1, doi. 10.1186/s13148-015-0143-8
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- Article
FGF23 measurement in burosumab-treated patients: an emerging treatment may induce a new analytical interference.
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- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 11, p. e267, doi. 10.1515/cclm-2020-0460
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- Article
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127
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- Article
Dental impact of anti-fibroblast growth factor 23 therapy in X-linked hypophosphatemia.
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- International Journal of Oral Science, 2023, v. 15, n. 1, p. 1, doi. 10.1038/s41368-023-00259-8
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- Article
Dental pulp stem cells as a promising model to study imprinting diseases.
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- International Journal of Oral Science, 2022, v. 14, n. 1, p. 1, doi. 10.1038/s41368-022-00169-1
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- Article
Developments in the Management of Growth Hormone Deficiency: Clinical Utility of Somapacitan.
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- Drug Design, Development & Therapy, 2024, v. 18, p. 291, doi. 10.2147/DDDT.S315172
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- Article
A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH).
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- PLoS ONE, 2024, v. 19, n. 1, p. 1, doi. 10.1371/journal.pone.0295080
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- Article
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
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- Nature Genetics, 2005, v. 37, n. 1, p. 25, doi. 10.1038/ng1487
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- Article
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.
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- European Journal of Endocrinology, 2023, v. 189, n. 4, p. 469, doi. 10.1093/ejendo/lvad144
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- Article
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
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- European Journal of Endocrinology, 2023, v. 189, n. 1, p. 123, doi. 10.1093/ejendo/lvad085
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- Publication type:
- Article
Somapacitan in children born small for gestational age: a multi-centre, open-label, controlled phase 2 study.
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- European Journal of Endocrinology, 2023, v. 188, n. 1, p. 1, doi. 10.1093/ejendo/lvac008
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- Article
Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemia.
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- European Journal of Endocrinology, 2021, v. 185, n. 4, p. 475, doi. 10.1530/EJE-21-0429
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- Article
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
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- European Journal of Endocrinology, 2021, v. 184, n. 2, p. 311, doi. 10.1530/EJE-20-0625
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- Article
Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.
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- European Journal of Endocrinology, 2016, v. 174, n. 4, p. 523, doi. 10.1530/EJE-15-1044
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- Article
Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms.
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- European Journal of Endocrinology, 2016, v. 174, n. 3, p. 325, doi. 10.1530/EJE-15-0661
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- Article
Le cholécalciférol (la vitamine D3) ne doit pas être inclus dans la liste des perturbateurs endocriniens.
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- Gériatrie et Psychologie Neuropsychiatrie du Vieillissement, 2022, v. 20, n. 2, p. 151, doi. 10.1684/pnv.2022.1031
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- Article
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 233, doi. 10.1159/000531865
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- Article
Determinants of Final Height in Patients Born Small for Gestational Age Treated with Recombinant Growth Hormone.
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- Hormone Research in Paediatrics, 2021, v. 94, n. 1-2, p. 52, doi. 10.1159/000516557
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- Article
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 5, p. 304, doi. 10.1159/000511419
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- Article
GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 150, doi. 10.1159/000503783
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- Article
Continuous Subcutaneous Recombinant Parathyroid Hormone (1–34) Infusion in the Management of Childhood Hypoparathyroidism Associated with Malabsorption.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 4, p. 271, doi. 10.1159/000479867
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- Article
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 4, p. 244, doi. 10.1159/000464142
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- Article
GNAS-Related Loss-of-Function Disorders and the Role of Imprinting.
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- Hormone Research in Paediatrics, 2013, v. 79, n. 3, p. 119, doi. 10.1159/000348516
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- Article
Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 11, p. 1475, doi. 10.1515/jpem-2020-0192
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- Article
Hypophosphatasia.
- Published in:
- Current Osteoporosis Reports, 2016, v. 14, n. 3, p. 95, doi. 10.1007/s11914-016-0309-0
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- Article
Rendu des résultats de dosage de l'hormone de croissance en μg/L : la fin de la résistance des irréductibles Gaulois.
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- Annales de Biologie Clinique, 2018, v. 76, n. 2, p. 133, doi. 10.1684/abc.2018.1322
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- Article
Le remboursement du dosage du CTX sérique : une incohérence dans la nomenclature des analyses de biologie médicale.
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- Annales de Biologie Clinique, 2016, v. 74, n. 4, p. 381, doi. 10.1684/abc.2016.1162
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- Article
Development of Spinal Enthesopathies in Adults With X-linked Hypophosphatemia.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1524, doi. 10.1210/clinem/dgad383
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- Article
Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2961, doi. 10.1210/clinem/dgad236
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- Article
Response to Letter to the Editor From Virú-Loza and Chávez-Nomberto: "Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort".
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- 2023
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- Publication type:
- Letter to the Editor
Early Growth Hormone Initiation Leads to Favorable Long-Term Growth Outcomes in Children Born Small for Gestational Age.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 5, p. 1043, doi. 10.1210/clinem/dgac694
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- Article
Genotype-phenotype Description of Vitamin D--dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 4, p. 812, doi. 10.1210/clinem/dgac639
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- Article
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3287, doi. 10.1210/clinem/dgac517
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- Article
X-Linked Hypophosphatemia, Not Only a Skeletal Disease But Also a Chronic Inflammatory State.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3275, doi. 10.1210/clinem/dgac543
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- Article
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 813, doi. 10.1210/clinem/dgab729
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- Article
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e2244, doi. 10.1210/clinem/dgab580
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- Article