Results 41 to 50 of about 3,479 (203)
A novel mutation in a case of pseudohypoparathyroidism type Ia
The Turkish Journal of Pediatrics, 2016 Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects.
Birgül Kırel +3 more
doaj +1 more source
Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization
The FASEB Journal, Volume 40, Issue 17, 15 September 2026.Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde +2 more
wiley +1 more source
, 2023 Supplemental information for the manuscript entitled "Neonatal and early infancy features of patients with inactivating PTH/PTHrP Signaling Disorders ...
Del Sindaco, Giulia
core +1 more source
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT A 18‐year‐old female presented with recurrent vomiting and headaches. Neuroimaging revealed extensive bilateral intracranial (Fahr‐type) calcification together with a cerebellar mass lesion. She underwent excision of the cerebellar mass. Etiology of the calcification could not be established, and histopathology showed only hyalinized acellular
Bikramaditya Prasad Sah +7 more
wiley +1 more source
A Case of Pseudohypoparathyroidism without Albright's Hereditary Osteodystrophy in an Adult [PDF]
, 2009 Pseudohypoparathyroidism is a rare disease caused by resistance to parathyroid hormone, and is associated with typical clinical typical symptoms such as tetany and seizures, hypocalcemia, hyperphosphatemia and increased parathyroid hormone levels ...
박종숙 +15 more
core +1 more source
Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder
Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.Addressing the Gap: First trio‐based WES study of ASD in Rwanda, addressing African underrepresentation in global genomics. Diagnostic Yield: 12.9% yield of clinically relevant variants, consistent with global benchmarks (10%–30%). Genetic Findings: Confirmed de novo likely pathogenic variants identified in high‐impact ASD genes, including SYNGAP1 and ...
Olivier Hakizimana +16 more
wiley +1 more source
Pseudohypoparathyroidism: A case report
, 2012 Psödohipoparatiroidi parathormona end organ direnci nedeniyle gelişen hipokalsemi, hiperfosfatemi ve parathormon yüksekliği ile karakterize bir durum olup şimdiye kadar üç tipi tanımlanmıştır.
Önenli, Neslihan Mungan +5 more
core +2 more sources
Pseudo-pseudohypoparathyroidism. A disputable syndrome
, 1960 Two cases of the so-called syndrome of pseudo-pseudohypoparathyroidism are described. Metacarpal and metatarsal defects may be seen not only in pseudo-pseudohypoparathyroidism, but are occasionally encountered in patients with multiple congenital defects.
Alivisatos, J.G., Papadatos, C.
core +1 more source
2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance
Frontiers in Endocrinology, 2019 Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects.
Francesca Marta Elli +9 more
doaj +1 more source
Pediatric Investigation, Volume 10, Issue 4, Page 333-344, August 2026.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source