Keywords: کمبود 21 هیدروکسیلاز; congenital adrenal hyperplasia; CYP21A2 gene; 21-hydroxylase deficiency; neonatal screening;
مقالات ISI کمبود 21 هیدروکسیلاز (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: کمبود 21 هیدروکسیلاز; CAH; congenital adrenal hyperplasia; NBS; newborn screening; TAT; turnaround time; LC-MS/M; liquid chromatography and tandem-mass spectrometry; 17-OHP; 17-hydroxy-progesterone; EDTA; ethylenediaminetetraacetic acid; 21OHyD; 21-hydroxylase deficiency; LoD;
Keywords: کمبود 21 هیدروکسیلاز; Urine; Steroid; CAH; Congenital adrenal hyperplasia; 21-hydroxylase deficiency; 11-oxygenated androgens;
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Salt-wasting; Genital ambiguity; Déficit de 21-hidroxilasa; Hiperplasia suprarrenal congénita; Pérdida salina; Genitales ambiguos;
Keywords: کمبود 21 هیدروکسیلاز; Urine; Steroid; CAH; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency;
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; CYP21A2 gene; Genotype; Phenotype;
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; Genetics; Adrenal insufficiency; 21-hydroxylase deficiency; Pseudogene; Genetic counseling;
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; Newborn screening; 17α-Hydroxyprogesterone; 21-Hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Pregnanetriolone
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Testicular adrenal rest tumor; Androgen; Steroidogenesis; Adrenal gland17OHP, 17-hydroxyprogesterone; 21OHD, 21-hydroxylase deficiency; ACTH, adrenocorticotropin; AD/T, androstenedione/testosteron
Keywords: کمبود 21 هیدروکسیلاز; 21-hydroxylase deficiency; Psychiatric disorders; Alcohol misuse; Drug misuse; Anxiety; Depression;
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Androgen; Cognitive; Spatial;
Keywords: کمبود 21 هیدروکسیلاز; congenital adrenal hyperplasia; 21-hydroxylase deficiency; glucocorticoid and mineralocorticoid substitution therapy; cortisol; aldosterone; adrenal androgens
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Fertility; Pregnancy; Testicular adrenal rest tumors (TART);
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Cortisol metabolism; 11β-Hydroxysteroid dehydrogenase;
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 17-Hydroxyprogesterone; 21-Hydroxylase deficiency; Newborn screening; SUMA;
Keywords: کمبود 21 هیدروکسیلاز; CAH; congenital adrenal hyperplasia; 21OHD; 21-hydroxylase deficiency; RCCX module; RP, C4, CYP21 and TNX genes; SW; salt-wasting; SV; simple-virilizing; NC; non-classical; ACTH; Adrenocorticotropic Hormone; 17-OHP; 17-hydroxyprogesterone; DHEAS; Dehydroe
Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; Gender assignment; 46, XX Males; Disorders of sexual development; Psychosexual development;
Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa
Keywords: کمبود 21 هیدروکسیلاز; Déficit de 21-hidroxilasa; Hiperplasia suprarrenal congénita; Pérdida salina; Genitales ambiguos; 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Salt-wasting; Genital ambiguity;
CYP21A2 intronic variants causing 21-hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; CAH; congenital adrenal hyperplasia; SW; salt wasting; SV; simple virilizing; NC; non-classic; CL; classic; HSF; human splicing finder; MLPA; multiplex ligation-dependent probe amplification; 21-Hydroxylase deficiency; Intronic variant; Splicing mutations
Prenatal Diagnosis of Congenital Adrenal Hyperplasia
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Amniocentesis; Fetal sex determination;
An improved micro-method for the measurement of steroid profiles by APPI-LC-MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH
Keywords: کمبود 21 هیدروکسیلاز; DHEA; dehydroepiandrosterone; DHT; dihydrotestosterone; 17 OHP; 17α-hydroxyprogesterone; 21-OHD; 21-hydroxylase deficiency; CAH; ongenital adrenal hyperplasia; HSD; 3α-hydroxysteroid dehydrogenase; LC-MS/MS; liquid chromatography-tandem mass spectro
A de novo mutation in CYP21A2 gene in a case of in vitro fertilization
Keywords: کمبود 21 هیدروکسیلاز; CYP21A2 gene; CYP21A1 pseudo gene; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; In vitro fertilization; Non-classical CAH form
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; CYP21A2; Mutation;
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
Keywords: کمبود 21 هیدروکسیلاز; CYP21A2; like-gene; CYP21A1P; Molecular diagnosis; 21-hydroxylase deficiency;
Diagnosis and management of classical congenital adrenal hyperplasia
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; CYP21A2; Disorders of sexual development
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone
Keywords: کمبود 21 هیدروکسیلاز; CAH; congenital adrenal hyperplasia; CYP21A2; cytochrome P450, family 21, subfamily A, polypeptide 2; 17-OHP; 17-hydroxyprogesterone; MLPA; multiplex ligation-dependent probe amplification; SW; salt-wasting; SV; simple virilizing; NC; nonclassic; fs; fram
Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
Keywords: کمبود 21 هیدروکسیلاز; 21-Hydroxylase deficiency; Nonclassic congenital adrenal hyperplasia; Androgen excess; Hirsutism
The activities of 5α-reductase and 17,20-lyase determine the direction through androgen synthesis pathways in patients with 21-hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; Backdoor pathway; 21-Hydroxylase deficiency; 17α-Hydroxyallopregnanolone; 5α-Pregnane-3α; 17α-Diol-20-one; 5α-Reductase; 17,20-Lyase;
Comparison of two different radioimmunoassays to measure 17-hydroxyprogesterone during treatment monitoring of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; 17-hydroxyprogesterone; Congenital adrenal hyperplasia; 21-hydroxylase deficiency; RIA
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; CYP21A2; Salt-wasting form; Testicular tumor; Medico-legal autopsy
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; Steroid 21-hydroxylase gene; 21-Hydroxylase deficiency; Chimeric gene
Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Mutational analysis; Mutations
Leukoencephalopathy in 21-β hydroxylase deficiency: Report of a family
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; CYP21 carriers; 21-Hydroxylase deficiency; Leukoencephalopathy
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Prenatal care; Steroid hydroxylases; Prenatal diagnosis;
Serum total testosterone levels in a patient with late onset 21-hydroxylase deficiency and a twin gestation
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia; testosterone; twins; hyperandrogenism; pregnancy; 21-hydroxylase deficiency;
Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs?
Keywords: کمبود 21 هیدروکسیلاز; Assisted reproductive technology; 21-hydroxylase deficiency; in vitro fertilization; carrier detection;
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Keywords: کمبود 21 هیدروکسیلاز; CYP21A2; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Steroidogenesis
Déficit de 21-hidroxilasa: aspectos actuales
Keywords: کمبود 21 هیدروکسیلاز; Hiperplasia suprarrenal congénita; 17-OH progesterona; Deficiencia 21-hidroxilasa; Genitales ambiguos; Genética molecular CYP21A2; Cribado neonatal hiperplasia suprarrenal congénita; Diagnóstico; tratamiento y tratamiento prenatal deficiencia 21-hidro
21-hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease
Keywords: کمبود 21 هیدروکسیلاز; Congenital adrenal hyperplasia (CAH); 21-hydroxylase deficiency; sexual ambiguity; salt losing; genetic counseling; prenatal diagnosis; prenatal treatment; Hyperplasie congénitale des surrénales (HCS); déficit en 21-hydroxylase; ambiguité sexuelle; pe