Results 141 to 150 of about 4,073 (218)

Two Distinct Endocrine Conditions in a Single Pediatric Patient: Congenital Adrenal Hyperplasia and Type 1 Diabetes Mellitus. [PDF]

Cureus
Gomes C, Bravo M, Goncalves Marques A, Rosmaninho-Salgado J, Mirante A.   +4 more
europepmc   +1 more source

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges. [PDF]

Genes (Basel)
Glotov AS, Nasykhova YA, Lazareva TE, Dvoynova NM, Shabanova ES, Danilova MM, Osinovskaya NS, Barbitoff YA, Maretina MA, Gorodnicheva EE, Tonyan ZN, Kiselev AV, Basipova AA, Bespalova ON, Kogan IY.   +14 more
europepmc   +1 more source

Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing. [PDF]

Orphanet J Rare Dis
Yang Y, Wang Y, Zhang B, Yu B.
europepmc   +1 more source

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns. [PDF]

Genome Med
Liang D, Zhu M, Liang Q, Qiang R, Yu L, Xu S, Li M, Song J, Zhou Y, He X, Huang Y, Jin H, Tan J, Liu H, Xia A, Liu Y, Liu P, Li Z, Wang R, Wang D, Zhang R, Pu Q, Zhou J, Xu R, Wang X, Tan M, Chen D, Wu C, Cui D, Mao A, Zhou W, Qiu W, Wu L.   +32 more
europepmc   +1 more source

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Graves LE, Christina S, Mullany KL, Alexander IE, Falhammar H.   +4 more
europepmc   +1 more source

Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells. [PDF]

J Enzyme Inhib Med Chem
Fu R, Huang M, Liu T, Chen Y, Li X, Jiang W.   +5 more
europepmc   +1 more source

Congenital adrenal hyperplasia: when the same genotype have different phenotypes [PDF]

, 2011
Cardoso, R, Cordinhã, C, Mirante, A, Morais, S, Ramos, L, Taborda, A   +5 more
core  

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

Simple virilizing form of 21-hydroxylase deficiency presenting with renal Insufficiency and polycythemia: a case report. [PDF]

Front Endocrinol (Lausanne)
Liang L, Su X, Zhang Y, Wang Z, Zhang G, Bai J, Li J.   +6 more
europepmc   +1 more source

Functional and structural studies of CYP21A2 gene mutants in congenital adrenal hyperplasia

, 2009
Le déficit en 21-hydroxylase est la cause la plus fréquente des hyperplasies congénitales des surrénales. Un grand nombre de nouvelles mutations a été trouvé dans le laboratoire qui centralise la plus grande cohorte de familles au niveau international et l’évaluation de leur sévérité était primordiale pour optimiser la prise en charge des patients ...
openaire   +1 more source