Cargando…

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

Detalles Bibliográficos
Autores principales:	Lao, Qizong, Merke, Deborah P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298381/ https://www.ncbi.nlm.nih.gov/pubmed/33824469 http://dx.doi.org/10.1038/s41431-021-00870-5

Ejemplares similares

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera
por: Lao, Qizong, et al.
Publicado: (2023)

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
por: Paragliola, Rosa Maria, et al.
Publicado: (2022)

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X
por: Kolli, Vipula, et al.
Publicado: (2019)

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany
por: Dörr, Helmuth G., et al.
Publicado: (2018)

SAT-069 A Case of Congenital Hypoaldosteronism Due to Aldosterone Synthase Deficiency Misdiagnosed as Classic Congenital Adrenal Hyperplasia
por: Mallappa, Ashwini, et al.
Publicado: (2019)

SUN-LB11 What Is the Value of Clinical Suspicion in Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (CAH 21OHD)?
por: Fernández, María Sanz, et al.
Publicado: (2020)

Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X
por: Lao, Qizong, et al.
Publicado: (2023)

Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH
por: Luxenberger, Katharina, et al.
Publicado: (2013)

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency
por: Speiser, Phyllis W., et al.
Publicado: (2010)

Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)?
por: González, Ricardo, et al.
Publicado: (2018)

Adrenocortical tumor in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
por: Dörr, Helmuth G., et al.
Publicado: (2019)

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Espinosa Reyes, Tania Mayvel, et al.
Publicado: (2020)

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
por: Verhees, Myrthe J. M., et al.
Publicado: (2021)

Growth-Related Characteristics of Patients <18 Years of Age with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (21OHD): Real World Evidence from the I-CAH Registry
por: Farrar, Mallory, et al.
Publicado: (2021)

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia
por: Lao, Qizong, et al.
Publicado: (2020)

Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency – the Next Disease Included in The Neonatal Screening Program in Poland
por: Ginalska-Malinowska, Maria
Publicado: (2018)

Case Report of an Adult Female with Neglected Congenital Adrenal Hyperplasia (CAH)
por: Krishnan, Gayathri Devi, et al.
Publicado: (2018)

Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
por: Kırmızıbekmez, Heves, et al.
Publicado: (2015)

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
por: Zetterström, Rolf H., et al.
Publicado: (2020)

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
por: Kocova, Mirjana, et al.
Publicado: (2022)

Ectopic Adrenal Tumor in a Patient With Untreated Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
por: Alba, Eva L, et al.
Publicado: (2021)

Treatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Lee, Peter A., et al.
Publicado: (2010)

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2019)

Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
por: Johannsen, T. H., et al.
Publicado: (2010)

Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Subbarayan, Anbezhil, et al.
Publicado: (2014)

A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome
por: Peltek Kendirci, Havva Nur, et al.
Publicado: (2012)

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Choi, Jin-Ho, et al.
Publicado: (2016)

Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
por: Mnif, Mouna Feki, et al.
Publicado: (2013)

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba
por: Espinosa Reyes, Tania Mayvel, et al.
Publicado: (2021)

Pitfalls of Prenatal Diagnosis guiding Postnatal Management in Congenital Adrenal Hyperplasia(CAH)
por: Murthy, Deepa Badrinath, et al.
Publicado: (2021)

Testicular Adrenal Rest Tumors (TARTS) With Unusual Histological Features in Congenital Adrenal Hyperplasia (CAH)
por: Marianovsky, Valeri, et al.
Publicado: (2015)

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Saho, Robert, et al.
Publicado: (2023)

Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia
por: Kolahdouz, Mahsa, et al.
Publicado: (2015)

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2020)

Tildacerfont for the Treatment of Patients With Classic Congenital Adrenal Hyperplasia: Results From a 12-Week Phase 2 Clinical Trial in Adults With Classic CAH
por: Auchus, Richard Joseph, et al.
Publicado: (2021)

Management challenges and therapeutic advances in congenital adrenal hyperplasia
por: Mallappa, Ashwini, et al.
Publicado: (2022)

RF09 | PSAT70 Comparison of Prednisolone Versus Modified-release Hydrocortisone (Efmody) in the Treatment of Congenital Adrenal Hyperplasia (CAH)
por: Merke, Deborah P, et al.
Publicado: (2022)

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Moreira, Ricardo P. P., et al.
Publicado: (2011)

Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Gomes, Larissa G., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_939jrut8rfmpvguhpo9fp9dfr4