Results 51 to 60 of about 2,981 (206)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 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, Özcan, Kenan, Yüksel, Bilgin, Özer, Güler, Annagür, Ali, Topaloğlu, Ali Kemal   +5 more
core   +1 more source

Improving the diagnosis of hyperphagia in melanocortin‐4 receptor pathway diseases

Obesity, Volume 33, Issue 7, Page 1217-1231, July 2025.
Abstract Characteristics of hyperphagia include heightened and prolonged hunger, longer time to satiation, shorter duration of satiety, severe preoccupation with food (i.e., hyperphagic drive), abnormal food‐seeking behaviors, and distress or functional impairment when food is unavailable.
M. Jennifer Abuzzahab, Beatrice Dubern, Anthony P. Goldstone, Andrea M. Haqq, Steven B. Heymsfield, Jennifer L. Miller, Jesse Richards, Martin Wabitsch, Jack A. Yanovski   +8 more
wiley   +1 more source

Pseudohypoparathyroidism and Growth

, 2011
Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). There are two main subtypes of PHP, named as PHP types Ia and Ib and caused by genetic alterations within upstream of the GNAS locus. Heterozygous inactivating mutations within alpha subunit of the stimulatory
Duzcan, Füsun, Semiz, Serap
openaire   +4 more sources

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations

Clinical Genetics, Volume 107, Issue 3, Page 354-358, March 2025.
We propose that variants leading to the skipping of exon 20 in the EP300 gene result in a severe form of Rubinstein–Taybi syndrome (RSTS). In our study, we identified two patients with de novo variants, and in one case, we confirmed exon 20 skipping. DNA methylation analysis supported the RSTS diagnosis; however, the episignature did not align with the
Lisa Pavinato, Silvia Carestiato, Slavica Trajkova, Lorena Sorasio, Giovanna Mantovani, Luisa De Sanctis, Jennifer Kerkhof, Haley McConkey, Jessica Rzasa, Emily Todd, Maria Balzo, Simona Cardaropoli, Alessandro Bruselles, Silvia De Rubeis, Joseph D. Buxbaum, Marco Tartaglia, Bekim Sadikovic, Giovanni Battista Ferrero, Alfredo Brusco   +18 more
wiley   +1 more source

Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications

Archives of Endocrinology and Metabolism, 2016
Objectives To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities.
Maicon Piana Lopes, Breno S. Kliemann, Ileana Borsato Bini, Rodrigo Kulchetscki, Victor Borsani, Larissa Savi, Victoria Z. C. Borba, Carolina A. Moreira   +7 more
doaj   +1 more source

A Rare Presentation of Fahr's Syndrome Associated With Secondary Hyperparathyroidism

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Fahr's syndrome (FS) is a rare disorder characterized by intracerebral calcification, presenting with various neuropsychiatric symptoms. This case highlights a rare presentation of FS with secondary hyperparathyroidism. It underscores the importance of comprehensive evaluation of early symptoms, effective use of diagnostic procedures, and ...
Simin Najafgholian, Mahbod Soltani, Sanaz Amirian, Negar Pourahmadian   +3 more
wiley   +1 more source

Intracranial Hemorrhage Revealing Pseudohypoparathyroidism as a Cause of Fahr Syndrome [PDF]

, 2011
Pseudohypoparathyroidism is an infrequently encountered disease. It is one of the causes of Fahr syndrome which also is a rare clinical entity caused by multiple diseases.
Abhijit Swami, Giridhari Kar
core   +1 more source

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, Meliha Demiral, Özkan Bozdağ, Kadri Karaer   +3 more
doaj   +1 more source

Bilateral Symmetrical Striopallidodentate Calcification Associated with Pseudohypoparathyroidism Demonstrated in a Patient with Cerebellar Astrocytoma

, 1991
A case of calcification in the striopallidodentate system associated with pseudohypoparathyroidism, clinically manifested after operation for a cystic astrocytoma of the cerebellar vermis, is reported.
Lubomir L. Markov
core   +1 more source