Results 171 to 180 of about 4,947 (206)

Relación entre 17-hidroxiprogesterona sérica con el tamiz neonatal en el diagnostico de hiperplasia suprarrenal congénita en pacientes pediátricos del hospital materno infantil ISSEMYM del 01 de enero de 2010 al 31 de diciembre de 2012 [PDF]

, 2014
Ayala Estrada, Arturo, Loza Santiaguillo, Paloma del Rocio   +1 more
core  

Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. [PDF]

JCEM Case Rep
Yousaf S, Nizar R, Alias G, Taylor D, Fulton P, Antoniadi T.   +5 more
europepmc   +1 more source

Genetic profiling of synchronous pituitary corticotroph adenomas. [PDF]

Pituitary
Zhang D, Tsai K, Santana C, Javaherian K, Lee M, Bergsneider M, Kim W, Wang MB, Vinters HV, Yan W, Heaney AP.   +10 more
europepmc   +1 more source

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China. [PDF]

Int J Neonatal Screen
Wang X, Lu X, Zheng F, Lin K, Liao M, Dong Y, Chen T, He Y, Lu M, Chen J, Li Y, Zhou Y.   +11 more
europepmc   +1 more source

PGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report. [PDF]

Int J Fertil Steril
Cavagnoli M, Augusta Tamm M, White Loureiro Souza V, Cerveró A, Mikulski Ali T, Cuzzi J, Riboldi M, Del Collado M.   +7 more
europepmc   +1 more source

Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam. [PDF]

Ann Pediatr Endocrinol Metab
Nguyen KN, Dang GTK, Can NTB, Tran DM, Bui TP, Phuong MNT, Pham HT, Ngo ND, Vu DC.   +8 more
europepmc   +1 more source

Identification of a Homozygous Variant in the <i>CYP21A2</i> Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA. [PDF]

Genes (Basel)
Petrillo N, Marcella S, Sirica R, Ianniello M, Ruggiero R, Mori A, Castiello R, Ramiro C, D'Angelo R, Pennacchio G, Barletta E, Passaro R, Fico A, Savarese G.   +13 more
europepmc   +1 more source

Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia? [PDF]

J Clin Endocrinol Metab
Sarafoglou K, Gaviglio A, Wolf C, Lorentz CP, Lteif A, Kyllo J, Radloff G, Detwiler Z, Cuthbert CD, Hodges JS, Grosse SD, Greene CN, Cordovado S.   +12 more
europepmc   +1 more source

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

van der Sanden B, Betz C, Herzog K, Schamschula E, Wimmer K, Vater I, Balachandran S, Chen X, Corominas Galbany J, Timmermans R, Derks R, HiFi Solves EMEA Consortium, Spielmann M, Eberle MA, Gilissen C, Vissers LE, Zschocke J, Bolz HJ, Hoischen A.   +18 more
europepmc   +1 more source

[Construction of a prognosis forecasting model for breast cancer based on lipid metabolism-related genes and functional verification of <i>ALDH2</i>]. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban
Lu Z, Lu Y, Zhou J, Zhu Y.
europepmc   +1 more source