Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1950 1
1953 1
1955 1
1956 6
1957 10
1958 9
1959 13
1960 16
1961 16
1962 23
1963 53
1964 76
1965 56
1966 57
1967 73
1968 62
1969 62
1970 85
1971 73
1972 57
1973 65
1974 82
1975 80
1976 63
1977 57
1978 62
1979 61
1980 42
1981 43
1982 51
1983 41
1984 50
1985 39
1986 53
1987 61
1988 47
1989 52
1990 46
1991 45
1992 72
1993 72
1994 73
1995 72
1996 80
1997 65
1998 65
1999 67
2000 85
2001 61
2002 65
2003 81
2004 70
2005 69
2006 87
2007 80
2008 75
2009 83
2010 103
2011 137
2012 141
2013 126
2014 140
2015 107
2016 106
2017 113
2018 143
2019 159
2020 154
2021 120
2022 136
2023 136
2024 145
2025 115
2026 103

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

4,969 results

Results by year

Citations

7 articles found by citation matching
Show all

Search results

Filters applied: . Clear all
Page 1
Did you mean sex chromosome disorders of sex development (15,077 results)?
Genetic control of typical and atypical sex development.
Reyes AP, León NY, Frost ER, Harley VR. Reyes AP, et al. Nat Rev Urol. 2023 Jul;20(7):434-451. doi: 10.1038/s41585-023-00754-x. Epub 2023 Apr 5. Nat Rev Urol. 2023. PMID: 37020056 Review.
Differences in sex development (DSD) arise from congenital alterations during any of these processes, and are classified depending on sex chromosomal constitution as sex chromosome DSD, 46,XY DSD or 46,XX DSD. ...Ongoing research is focused on t …
Differences in sex development (DSD) arise from congenital alterations during any of these processes, and are classified depen …
A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.
Yang X, Ye Z, Zhang X, Wang H, Liu C. Yang X, et al. Leg Med (Tokyo). 2017 Jul;27:38-42. doi: 10.1016/j.legalmed.2017.06.006. Epub 2017 Jun 30. Leg Med (Tokyo). 2017. PMID: 28697408
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. ...
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to t …
[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].
Pachajoa H. Pachajoa H. Arch Argent Pediatr. 2013 Jul-Aug;111(4):e101-4. doi: 10.5546/aap.2013.e101. Arch Argent Pediatr. 2013. PMID: 23912296 Free article. Review. Spanish.
We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular s …
We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype …
The Y chromosome: male reproduction and beyond.
Krausz C, Abrardo C. Krausz C, et al. Fertil Steril. 2025 Jun;123(6):921-932. doi: 10.1016/j.fertnstert.2025.03.006. Epub 2025 Mar 8. Fertil Steril. 2025. PMID: 40064392 Free article. Review.
The crucial role of Y chromosome genes in male gonadal determination and reproductive fitness has been recognized for decades. ...Finally, we discuss the broader implications of Y chromosome variations on health conditions beyond male infertility....
The crucial role of Y chromosome genes in male gonadal determination and reproductive fitness has been recognized for decades. ...Fin …
Reproductive health in Turner's syndrome: from puberty to pregnancy.
Porcu E, Cipriani L, Damiano G. Porcu E, et al. Front Endocrinol (Lausanne). 2023 Dec 5;14:1269009. doi: 10.3389/fendo.2023.1269009. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38116311 Free PMC article. Review.
Turner's syndrome is characterized by highly variable genetic anomalies that consist in a partial or complete deletion of the X sexual chromosome; it can be present as a monosomy or as a mosaicism with two o three different cellular lines. 50% of the patients with T …
Turner's syndrome is characterized by highly variable genetic anomalies that consist in a partial or complete deletion of the X sexual …
Voice dissatisfaction in individuals with a disorder of sex development.
Nygren U, Södersten M, Thyen U, Köhler B, Nordenskjöld A; dsd-LIFE Group. Nygren U, et al. Clin Endocrinol (Oxf). 2019 Jul;91(1):219-227. doi: 10.1111/cen.14000. Epub 2019 May 15. Clin Endocrinol (Oxf). 2019. PMID: 31026085
OBJECTIVE: Changes of sex hormone levels in disorders of sex development (DSD) can affect the body, including the vocal folds, during and after foetal development. ...
OBJECTIVE: Changes of sex hormone levels in disorders of sex development (DSD) can affect the body, including th …
Differences of sex development in the newborn: from clinical scenario to molecular diagnosis.
Ibba A, Del Pistoia M, Balsamo A, Baronio F, Capalbo D, Russo G, DE Sanctis L, Bizzarri C. Ibba A, et al. Minerva Pediatr (Torino). 2021 Dec;73(6):606-620. doi: 10.23736/S2724-5276.21.06512-5. Epub 2021 Jun 21. Minerva Pediatr (Torino). 2021. PMID: 34152117 Review.
Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. ...The current classification divides DSDs into 3 categories according …
Differences/disorders of sex development (DSD) are defined as a group of congenital conditions in which the developm …
Etiological diagnosis of undervirilized male/XY disorder of sex development.
Atta I, Ibrahim M, Parkash A, Lone SW, Khan YN, Raza J. Atta I, et al. J Coll Physicians Surg Pak. 2014 Oct;24(10):714-8. doi: 10.2014/JCPSP.714718. J Coll Physicians Surg Pak. 2014. PMID: 25327912
OBJECTIVE: To do clinical, hormonal and chromosomal analysis in undervirilized male / XY disorder of sex development and to make presumptive etiological diagnosis according to the new Disorder of Sex Development (DSD) classification syste …
OBJECTIVE: To do clinical, hormonal and chromosomal analysis in undervirilized male / XY disorder of sex development an …
46,XX sex reversal.
Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. Zenteno-Ruiz JC, et al. Arch Med Res. 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8. Arch Med Res. 2001. PMID: 11750731 Review.
In humans, sexual differentiation is directed by SRY, a master regulatory gene located at the Y chromosome. ...Moreover, several genes have recently been implicated in the development of the bipotential gonad even before SRY is expressed. In some individuals, …
In humans, sexual differentiation is directed by SRY, a master regulatory gene located at the Y chromosome. ...Moreover, sever …
[Clinical characteristics and genetic analysis of a case with 47,XYY Disorder of sex development due to variant of NR5A1 gene].
Liu Y, Li J, Xu Q, Yang Y, He L, Duan H. Liu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 Aug 10;42(8):931-936. doi: 10.3760/cma.j.cn511374-20250224-00103. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025. PMID: 41070646 Chinese.
OBJECTIVE: To investigate the clinical phenotype and genetic etiology of a patient with tall stature and primary amenorrhea presenting with 47,XYY Disorder of sex development (DSD). METHODS: A female patient presenting with "tall stature and primary amenorrhe …
OBJECTIVE: To investigate the clinical phenotype and genetic etiology of a patient with tall stature and primary amenorrhea presenting with …
4,969 results