Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center
出版年份 2023 全文链接
标题
Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center
作者
关键词
-
出版物
Sexual Development
Volume -, Issue -, Pages 1-11
出版商
S. Karger AG
发表日期
2023-10-12
DOI
10.1159/000534085
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY Differences of Sex Development
- (2022) Nathalia Lisboa Gomes et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
- (2022) Rodolfo A Rey JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings
- (2022) Evgenia Globa et al. Frontiers in Endocrinology
- Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort
- (2022) Housna Zidoune et al. Frontiers in Genetics
- Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021)
- (2021) SF Ahmed et al. CLINICAL ENDOCRINOLOGY
- Towards improved genetic diagnosis of human differences of sex development
- (2021) Emmanuèle C. Délot et al. NATURE REVIEWS GENETICS
- Analysis of variants in GATA4 and FOG2 / ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
- (2020) Jocelyn A. Bergen et al. Molecular Genetics & Genomic Medicine
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- (2020) Sabina Baumgartner-Parzer et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes
- (2020) Dalia Abualsaud et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care
- (2019) Annastasia Ediati et al. Frontiers in Pediatrics
- A Tale of Two Tracts: history, current advances and future directions of research on sexual differentiation of reproductive tracts
- (2019) Fei Zhao et al. BIOLOGY OF REPRODUCTION
- Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development
- (2019) Katie Ayers et al. JOURNAL OF MEDICAL GENETICS
- Disorders of sex development: Genetic characterization of a patient cohort
- (2019) Mary Garc�a-Acero et al. Molecular Medicine Reports
- Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency
- (2019) Nanis S. Marzuki et al. International Journal of Endocrinology
- Caring for individuals with a difference of sex development (DSD): a Consensus Statement
- (2018) Martine Cools et al. Nature Reviews Endocrinology
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
- (2018) Phyllis W Speiser et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches
- (2018) Brendan Backhouse et al. Sexual Development
- Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia
- (2016) A. Zulfa Juniarto et al. CLINICAL ENDOCRINOLOGY
- Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care
- (2016) Peter A. Lee et al. Hormone Research in Paediatrics
- Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development
- (2015) Annastasia Ediati et al. JOURNAL OF PSYCHOSOMATIC RESEARCH
- DSDs: genetics, underlying pathologies and psychosexual differentiation
- (2014) Valerie A. Arboleda et al. Nature Reviews Endocrinology
- Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
- (2013) M. I. New et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development
- (2012) VA Arboleda et al. CLINICAL GENETICS
- Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia
- (2011) A. Zulfa Juniarto et al. International Journal of Endocrinology
- Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
- (2011) Nélio Neves Veiga-Junior et al. International Journal of Endocrinology
- Genetics of congenital adrenal hyperplasia
- (2009) Nils Krone et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
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