Results 121 to 130 of about 3,479 (203)

Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report. [PDF]

AACE Endocrinol Diabetes
Manna R, Roy A, Das A, Bhowmick R, Bhunia NS, Sarkar S, Bajpai N, Sonowal R, Mishra NR.   +8 more
europepmc   +1 more source

Basal Ganglia Calcification With Treatment-Resistant Hypocalcaemia and Persistent Psychosis in an 18-Year-Old: A Case Report. [PDF]

Cureus
Abu Zar N, Elsaadany A.
europepmc   +1 more source

Clinical picture of early-infancy PTH resistance syndromes: is it time to improve diagnostic criteria?

J Clin Endocrinol Metab
Del Sindaco G, Berkenou J, Pagnano A, Audrain C, Ferrante E, Rothenbuhler A, Linglart A, Mantovani G.   +7 more
europepmc   +1 more source

<i>PTHLH</i> gene variant in an Indian boy with brachydactyly type E: A case report and literature review. [PDF]

Clin Pediatr Endocrinol
Hulse A, Ranganath P.
europepmc   +1 more source

Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins. [PDF]

Clin Epigenetics
Perez-Nanclares G, Manero-Azua A, Grau G, Pereda A, Corcuera J, Navarro E, Aranaga-Decori AC, García-Castaño A, de la Morena-Barrio B, Castano L, Perez de Nanclares G.   +10 more
europepmc   +1 more source

A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions. [PDF]

Clin Epigenetics
Urakawa T, Huang H, Nagai T, Hattori A, Kawasaki T, Saitsu H, Akutsu H, Fukami M, Kagami M.   +8 more
europepmc   +1 more source

Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism. [PDF]

J Clin Med
Tamaroff J, Shoemaker AH.
europepmc   +1 more source

Pseudohypoparathyroidism

Clinical Pediatric Endocrinology, 2005
openaire   +3 more sources

Severe infantile obesity with a maternal <i>GNAS</i> deletion and multi-locus imprinting disturbance including hypomethylation of the <i>KCNQ1OT1</i>:TSS-DMR. [PDF]

Clin Pediatr Endocrinol
Urakawa T, Shimada M, Sano S, Ohtsu Y, Fukami M, Kagami M.   +5 more
europepmc   +1 more source

Late-Onset Pseudohypoparathyroidism: A Case Report. [PDF]

Cureus
Ebrahim R, Peedika Parambil N, Poolakundan H, Dauda Sonibare A, Jenner Poolakundan F.   +4 more
europepmc   +1 more source