Works about SEX differentiation disorders
Results: 1268
Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1507749
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- Article
Growth charts of Brazilian girls with Turner syndrome without the use of GH or oxandrolone.
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- Jornal de Pediatria, 2025, v. 101, n. 2, p. 231, doi. 10.1016/j.jped.2024.09.003
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- Article
Mosaïcisme 47,XXY/46,XX et anomalie de la différenciation sexuelle : à propos d'un cas.
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- Eastern Mediterranean Health Journal, 2014, v. 20, n. 6, p. 403, doi. 10.26719/2014.20.6.403
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- Article
Intersex: Considerations for Language and Invitations to Further Research.
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- Women & Language, 2016, v. 39, n. 1, p. 19
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- Article
Developing a Program to Assist Turner's Syndrome Patients and Families.
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- Social Work in Health Care, 1991, v. 16, n. 2, p. 69
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- Article
Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology.
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- Journal of Sex Research, 2021, v. 58, n. 4, p. 522, doi. 10.1080/00224499.2019.1703130
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- Article
Body Image and Sexuality in Indonesian Adults with a Disorder of Sex Development (DSD).
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- Journal of Sex Research, 2015, v. 52, n. 1, p. 15, doi. 10.1080/00224499.2013.816260
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- Article
Evaluation of terminology used to describe disorders of sex development.
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- Current Medical Literature: Urology, 2011, v. 17, n. 4, p. 108
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- Article
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys–Drash syndrome and congenital nephrotic syndrome of the Finnish type.
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- Clinical & Experimental Nephrology, 2019, v. 23, n. 8, p. 1058, doi. 10.1007/s10157-019-01732-7
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- Article
Perspectives in Pediatric Pathology, Chapter 7. Ovotesticular DSD (True Hermaphroditism).
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- 2015
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- Publication type:
- Opinion
Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 4, p. 259, doi. 10.2350/14-04-1471-PB.1
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- Article
Effect of Menstrual Cycle and Hormonal Contraception on Musculoskeletal Health and Performance: Protocol for a Prospective Cohort Design and Cross-Sectional Comparison.
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- JMIR Research Protocols, 2024, v. 13, p. 1, doi. 10.2196/50542
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- Article
CONGENITAL ADRENAL HYPERPLASIA WITH CONCOMITANT MULLERIAN AGENESIS: A RARE OCCURRENCE IN 46 XX DISORDERS OF SEXUAL DEVELOPMENT.
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- Journal of Syntax Literate, 2023, v. 8, n. 12, p. 6700, doi. 10.36418/syntax-literate.v8i12.14109
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- Article
46,XY disorders of sex development: the use of NGS for prevalent variants.
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- Human Genetics, 2022, v. 141, n. 12, p. 1863, doi. 10.1007/s00439-022-02465-6
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- Article
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
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- Human Genetics, 2020, v. 139, n. 11, p. 1455, doi. 10.1007/s00439-020-02189-5
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- Article
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
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- Human Genetics, 2018, v. 137, n. 3, p. 265, doi. 10.1007/s00439-018-1879-y
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- Article
In the footsteps of Leonardo: Disability studies and intersex, allies in the renewal of medical education.
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- Bioethica Forum, 2020, v. 13, n. 1, p. 40
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- Article
Een 78, XX ovotesticulaire geslachtsontwikkelingsstoornis, voorheen beschreven als een ‘vrouwelijke echte hermafrodiet’, bij een hond.
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- Vlaams Diergeneeskundig Tijdschrift, 2024, v. 93, n. 5, p. 254, doi. 10.21825/vdt.92070
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- Article
Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study.
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- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 16, p. 1204, doi. 10.1093/jnci/dji240
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- Article
Testicular development in bulls treated with recombinant bovine somatotropin.
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- Journal of Animal Science, 1993, v. 71, n. 6, p. 1540, doi. 10.2527/1993.7161540x
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- Article
From Harmful Practices and Instrumentalisation, towards Legislative Protections and Community-Owned Healthcare Services: The Context and Goals of the Intersex Movement in Australia.
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- Social Sciences (2076-0760), 2024, v. 13, n. 4, p. 191, doi. 10.3390/socsci13040191
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- Article
A rare case of steroid 11 beta-hydroxylase deficiency in a child revealed by acute pulmonary edema.
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- Oxford Medical Case Reports, 2024, v. 2024, n. 5, p. 1, doi. 10.1093/omcr/omae042
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- Article
BOY OR GIRL: A MALAYSUAN RELIGIOUS AND ETHICAL APPROACH.
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- Revista Romana de Bioetica, 2014, v. 12, n. 4, p. 136
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- Article
Complete Androgen Insensitivity Syndrome: Diagnosis and Psychological Impact in Two Adolescents, A Case Report.
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- 2022
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- Publication type:
- Case Study
Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/8893467
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- Article
Untangling the Complexity: Understanding Disorder of Sex Development in Pakistan - Challenges and Strategies for Effective Management.
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- Journal of Liaquat University of Medical & Health Sciences, 2023, v. 22, n. 4, p. 221, doi. 10.22442/jlumhs.2023.01046
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- Article
An Appeal for Supporting Individuals with Disorders of Sex Development in Low Middle Income Country Pakistan.
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- Annals of King Edward Medical University, 2023, v. 29, p. 214, doi. 10.21649/akemu.v29iSpecialIssue3(JulSep).5586
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- Article
EP16.28: Prenatal diagnosis of a Swyer syndrome as a result of gender discrepancy in NIPT and ultrasound.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 333, doi. 10.1002/uog.21439
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- Article
OC23.03: Prenatal diagnosis of disorders of sex differentiation.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 59, doi. 10.1002/uog.20583
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- Article
OC02.06: Prenatal fetal gender discordance following cfDNA testing.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 5, doi. 10.1002/uog.20434
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- Article
EP06.17: A molecular basis underlying a disorder of sexual development: a case of ambigious genitalia with an underlying DAX1 duplication on CMA.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 215, doi. 10.1002/uog.19862
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- Article
A rare form of persistent Mullerian duct syndrome: Transverse testicular ectopia with germ cell testis cancer and hernia uteri inguinalis.
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- Andrologia, 2021, v. 53, n. 11, p. 1, doi. 10.1111/and.14229
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- Article
Early and late diagnoses of 17β‐Hydroxysteroid dehydrogenase type‐3 deficiency in two unrelated patients.
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- Andrologia, 2021, v. 53, n. 6, p. 1, doi. 10.1111/and.14017
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- Article
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
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- Andrologia, 2021, v. 53, n. 2, p. 1, doi. 10.1111/and.13937
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- Article
Male pseudohermaphrodite with persistent Mullerian duct: A radiologist's and patient's dilemma alike.
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- Andrologia, 2021, v. 53, n. 2, p. 1, doi. 10.1111/and.13928
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- Article
A novel SRD5A2 mutation in an Iranian family with sex development disorder.
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- Andrologia, 2021, v. 53, n. 1, p. 1, doi. 10.1111/and.13847
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- Article
Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases.
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- Andrologia, 2020, v. 52, n. 11, p. 1, doi. 10.1111/and.13739
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- Article
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
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- Andrologia, 2020, v. 52, n. 6, p. 1, doi. 10.1111/and.13585
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- Article
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
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- Andrologia, 2019, v. 51, n. 9, p. N.PAG, doi. 10.1111/and.13377
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- Article
Molecular investigation of mutations in androgen receptor and 5‐alpha‐reductase‐2 genes in 46,XY Disorders of Sex Development with normal testicular development.
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- Andrologia, 2019, v. 51, n. 5, p. N.PAG, doi. 10.1111/and.13250
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- Article
Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases.
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- Andrologia, 2019, v. 51, n. 4, p. N.PAG, doi. 10.1111/and.13232
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- Article
Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.
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- Andrologia, 2017, v. 49, n. 10, p. n/a, doi. 10.1111/and.12763
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- Article
Very late presentation of a disorder of sex development.
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- Andrologia, 2017, v. 49, n. 10, p. n/a, doi. 10.1111/and.12831
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- Article
Retracted: Aetiology and clinical profile of children with 46, XY differences of sex development at an Indian referral centre.
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- Andrologia, 2017, v. 49, n. 9, p. n/a, doi. 10.1111/and.12663
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- Article
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46, XY patients.
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- Andrologia, 2016, v. 48, n. 5, p. 509, doi. 10.1111/and.12470
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- Article
Ethical perspectives on the management of disorders of sex development in children.
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- Medicolegal & Bioethics, 2015, v. 5, p. 27, doi. 10.2147/MB.S63708
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- Article
Phenotype‐Genotype Discordance and a Case of a Disorder of Sexual Differentiation.
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- 2024
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- Case Study
Loco-Regional Anaesthesia during Standing Laparoscopic Ovariectomy in Equids: A Systematic Review (2003–2023) of the Literature.
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- Animals (2076-2615), 2024, v. 14, n. 16, p. 2306, doi. 10.3390/ani14162306
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- Article
Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses.
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- Animals (2076-2615), 2023, v. 13, n. 3, p. 539, doi. 10.3390/ani13030539
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- Article
Analyses of Molecular Characteristics and Enzymatic Activities of Ovine HSD17B3.
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- Animals (2076-2615), 2021, v. 11, n. 10, p. 2876, doi. 10.3390/ani11102876
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- Article