Results 121 to 130 of about 2,981 (206)

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B. [PDF]

JCI Insight
Iwasaki Y, Reyes M, Molin A, Muurinen M, Kottler ML, Bastepe M, Jüppner H.   +6 more
europepmc   +1 more source

Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal. [PDF]

Ann Med Surg (Lond)
Adhikari J, Adhikari S, Paudel K, Adhikari D, Aryal S, Dahal SR, Parajuli P, Budha B, Shah R.   +8 more
europepmc   +1 more source

Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report. [PDF]

BMC Endocr Disord
Wen T, Liu Q, Liu X, You R, Li X, Li R, Tan L, Cheng J, Hong M, Peng Z.   +9 more
europepmc   +1 more source

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights. [PDF]

Front Genet
Zhao Y, Mou L, Akaaboune O, Zhang J.
europepmc   +1 more source

[Complications of Pseudohypoparathyroidism and Congenital Forms of Hypoparathyroidism in Children]. [PDF]

Probl Endokrinol (Mosk)
Dzhamaludinova AA, Sozaeva LS, Makazan NV, Kolodkina AA, Kulikova KS, Kalinchenko NY, Bolmasova AV, Novokreshennih EE, Peterkova VA, Mokrysheva NG.   +9 more
europepmc   +1 more source

Hypocalcemic Tetany Transiently "Cured" by Pregnancy: A Case Report. [PDF]

Am J Kidney Dis
Sannapaneni S, Krishnasamy S, Reyes M, Jüppner H, Lederer ED.   +4 more
europepmc   +1 more source

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications. [PDF]

Cells
Paparella R, Pastore F, Marchetti L, Bei A, Bernabei I, Iafrate N, Maglione V, Niceta M, Zambrano A, Celli M, Fiore M, Pucarelli I, Tarani L.   +12 more
europepmc   +1 more source

Editorial: Molecular mechanisms and precision medicine in rare diseases. [PDF]

Front Mol Biosci
Rodriguez Cetina Biefer H, Elkhal A, Moutaoufik MT.   +2 more
europepmc   +1 more source

Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder. [PDF]

Cureus
Glória J, Soares M, Soares MP, Pereira C, Sampaio ML.   +4 more
europepmc   +1 more source