| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/NRENDO.2015.69 |
| P698 | PubMed publication ID | 25942653 |
| P50 | author | John C. Achermann | Q37372720 |
| Tania Bachega | Q73738568 | ||
| Berenice Bilharinho Mendonça | Q42957618 | ||
| Mirian Yumie Nishi | Q45750123 | ||
| P2093 | author name string | Sorahia Domenice | |
| P2860 | cites work | Loss-of-function mutation in GATA4 causes anomalies of human testicular development | Q24336463 |
| Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline | Q24614223 | ||
| Consensus statement on management of intersex disorders | Q24675420 | ||
| Androgen insensitivity syndrome | Q26850843 | ||
| Solution structure of the supramolecular adduct between a liver cytosolic bile acid binding protein and a bile acid-based gadolinium(III)-chelate, a potential hepatospecific magnetic resonance imaging contrast agent | Q27652584 | ||
| Mammalian sex determination—insights from humans and mice | Q27691819 | ||
| Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome | Q28145443 | ||
| Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene | Q28184931 | ||
| Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 | Q28243215 | ||
| Androgen resistance | Q28278311 | ||
| Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency | Q28287536 | ||
| A SOX9 duplication and familial 46,XX developmental testicular disorder | Q28302415 | ||
| Guidelines for investigating causality of sequence variants in human disease | Q28655218 | ||
| Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling | Q33553088 | ||
| Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma | Q33682367 | ||
| Identification of de novo copy number variants associated with human disorders of sexual development | Q33737564 | ||
| Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development | Q33738292 | ||
| Accuracy of fetal gender determination in maternal plasma at 5 and 6 weeks of pregnancy. | Q54572488 | ||
| Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis | Q56505003 | ||
| Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
| Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis | Q57632380 | ||
| 46,XY disorders of sex development (DSD) | Q57632494 | ||
| Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis | Q33847708 | ||
| Nuclear hormone receptor coregulators in action: diversity for shared tasks | Q33857152 | ||
| Analysis of testosterone and dihydrotestosterone in mouse tissues by liquid chromatography-electrospray ionization-tandem mass spectrometry | Q33875919 | ||
| The array CGH and its clinical applications | Q34012722 | ||
| Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis | Q34028063 | ||
| New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD) | Q34168852 | ||
| Molecular genetic testing and the future of clinical genomics | Q34345162 | ||
| Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination | Q34381676 | ||
| Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis | Q34399889 | ||
| Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males | Q34424601 | ||
| Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency | Q34433164 | ||
| SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype. | Q34479859 | ||
| Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone | Q34587904 | ||
| Deep sequencing of patient genomes for disease diagnosis: when will it become routine? | Q34691675 | ||
| Genetic diagnosis and testing in clinical practice | Q34700670 | ||
| Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation | Q34989640 | ||
| Exome sequencing for the diagnosis of 46,XY disorders of sex development. | Q35055057 | ||
| UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development | Q35094148 | ||
| Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 | Q35220379 | ||
| Current concepts in disorders of sexual development | Q35251571 | ||
| Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants | Q35613426 | ||
| Translational genetics for diagnosis of human disorders of sex development | Q35660382 | ||
| Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature | Q36275257 | ||
| Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study | Q36611988 | ||
| A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development | Q36732947 | ||
| Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review | Q36927303 | ||
| Actionable, pathogenic incidental findings in 1,000 participants' exomes | Q37217044 | ||
| 46,XY disorders of sex development (DSD). | Q37277213 | ||
| Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome | Q37445791 | ||
| Molecular biology of androgen insensitivity | Q37922886 | ||
| Uses of cell free fetal DNA in maternal circulation | Q38006298 | ||
| An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia | Q38050359 | ||
| Male Pseudohermaphroditism due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management | Q57632790 | ||
| EXTENSIVE PERSONAL EXPERIENCE: Prenatal Diagnosis for Congenital Adrenal Hyperplasia in 532 Pregnancies | Q57800249 | ||
| X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome | Q57972057 | ||
| Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency | Q70228775 | ||
| Gonadal agenesis in a phenotypically normal female with positive H-Y antigen | Q70795710 | ||
| Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency | Q71477252 | ||
| Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene | Q72678128 | ||
| Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum | Q73143906 | ||
| Different chromosome Y abnormalities in Turner syndrome | Q77120606 | ||
| Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies | Q77337714 | ||
| Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma | Q79362892 | ||
| Feasibility study of using fetal DNA in maternal plasma for non-invasive prenatal diagnosis | Q80228699 | ||
| Prenatal treatment of congenital adrenal hyperplasia | Q81065613 | ||
| Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening | Q84013094 | ||
| Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study | Q84018877 | ||
| Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation | Q84231321 | ||
| The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? | Q84243632 | ||
| Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prena | Q84482452 | ||
| Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci | Q84664111 | ||
| Next-generation sequencing for the genetic screening of phaeochromcytomas and paragangliomas: riding the new wave, but with caution | Q86604450 | ||
| Defects in androgen biosynthesis causing 46,XY disorders of sexual development | Q38050362 | ||
| DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome | Q38050364 | ||
| Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential? | Q38091412 | ||
| Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant? | Q38149388 | ||
| Next Generation sequencing is the impetus for the next generation of laboratory-based genetic counselors | Q38179299 | ||
| Malformation syndromes associated with disorders of sex development | Q38218950 | ||
| Diagnostic clinical genome and exome sequencing | Q38221192 | ||
| Genetic regulation of mammalian gonad development. | Q38253305 | ||
| Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis | Q38292143 | ||
| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development | Q38903739 | ||
| Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases | Q40593548 | ||
| The role of the sex-determining region Y gene in the etiology of 46,XX maleness | Q41571144 | ||
| Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency | Q41654538 | ||
| XY sex reversal and gonadal dysgenesis due to 9p24 monosomy | Q41672072 | ||
| Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. | Q42718507 | ||
| Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations | Q43173452 | ||
| Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia | Q43237572 | ||
| A genetic counselor's guide to using next-generation sequencing in clinical practice | Q43432135 | ||
| 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. | Q43628081 | ||
| Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development | Q44068488 | ||
| An overview of prenatal genetic screening and diagnostic testing | Q44296588 | ||
| New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011). | Q44637363 | ||
| P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping | Q44690242 | ||
| Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform | Q44826241 | ||
| A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency | Q45235722 | ||
| Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency. | Q45238665 | ||
| Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. | Q45945476 | ||
| A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency | Q46052205 | ||
| Simultaneous measurement of serum testosterone and dihydrotestosterone by liquid chromatography-tandem mass spectrometry | Q46359256 | ||
| XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin | Q46868381 | ||
| Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia | Q47334157 | ||
| Normal growth and development of fetal external genitalia demonstrated by sonography | Q47408193 | ||
| Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre. | Q48069630 | ||
| Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. | Q50687772 | ||
| A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis. | Q50775778 | ||
| Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. | Q51036202 | ||
| 46,XY karyotype in a female phenotype fetus: a challenging diagnosis. | Q51340346 | ||
| Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound. | Q52114117 | ||
| XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. | Q53163970 | ||
| Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? | Q53316205 | ||
| P433 | issue | 8 | |
| P304 | page(s) | 478-488 | |
| P577 | publication date | 2015-05-05 | |
| P1433 | published in | Nature Reviews Endocrinology | Q2079257 |
| P1476 | title | Disorders of sex development: effect of molecular diagnostics | |
| P478 | volume | 11 |
| Q91902349 | A clinical algorithm to diagnose differences of sex development |
| Q52366401 | A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. |
| Q38764004 | A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development |
| Q29147443 | A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development |
| Q89668860 | Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence |
| Q54673187 | Analytical Review of Contemporary Fatwas in Resolving Biomedical Issues Over Gender Ambiguity. |
| Q61162004 | Caring for individuals with a difference of sex development (DSD): a Consensus Statement |
| Q41897889 | Human sex development: targeted technologies to improve diagnosis |
| Q94452943 | Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide |
| Q51037836 | Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment. |
| Q37235393 | The Genetic and Environmental Factors Underlying Hypospadias |
| Q37393257 | The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene |
| Q50188676 | Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing |
| Q95404455 | [Clinical evaluation and management of neonates with disorder of sexual development] |
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