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Year Number of Results
1964 2
1966 2
1967 1
1968 1
1969 3
1970 2
1971 3
1972 2
1973 2
1974 2
1975 3
1978 2
1982 1
1984 2
1985 1
1986 1
1989 2
1990 5
1991 1
1993 4
1994 5
1995 2
1996 1
1997 1
1998 3
1999 2
2000 4
2001 3
2002 4
2003 4
2004 4
2005 3
2006 2
2007 3
2008 2
2009 3
2010 3
2011 3
2012 4
2013 3
2014 3
2015 2
2016 2
2017 3
2018 4
2019 3
2020 3
2021 1
2022 4
2023 8
2024 1

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131 results

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Page 1
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Gravholt CH, et al. Nat Rev Endocrinol. 2019 Oct;15(10):601-614. doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18. Nat Rev Endocrinol. 2019. PMID: 31213699 Review.
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. ...However, numerous important clinical advances have been achieved, covering all specialty fields involved i …
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, ofte …
Turner's syndrome.
Ranke MB, Saenger P. Ranke MB, et al. Lancet. 2001 Jul 28;358(9278):309-14. doi: 10.1016/S0140-6736(01)05487-3. Lancet. 2001. PMID: 11498234 Review.
Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. ...New developme …
Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physic …
Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J. Skuse D, et al. Handb Clin Neurol. 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. Handb Clin Neurol. 2018. PMID: 29325624 Review.
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), tr …
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex …
Organ Abnormalities Caused by Turner Syndrome.
Yoon SH, Kim GY, Choi GT, Do JT. Yoon SH, et al. Cells. 2023 May 11;12(10):1365. doi: 10.3390/cells12101365. Cells. 2023. PMID: 37408200 Free PMC article. Review.
Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism, short stature, cardiovascular and vascular abnormalities, liver disease, renal abnormalities, …
Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ syste …
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. Tartaglia NR, et al. Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. Orphanet J Rare Dis. 2010. PMID: 20459843 Free PMC article. Review.
Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental …
Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome …
Turner syndrome 2008.
Bondy CA. Bondy CA. Horm Res. 2009 Jan;71 Suppl 1:52-6. doi: 10.1159/000178039. Epub 2009 Jan 21. Horm Res. 2009. PMID: 19153507 Review.
BACKGROUND: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with incidental diag …
BACKGROUND: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses fo …
Reproductive health in Turner syndrome: A narrative review.
Whigham CA, Vollenhoven B, Vincent AJ. Whigham CA, et al. Prenat Diagn. 2023 Feb;43(2):261-271. doi: 10.1002/pd.6261. Epub 2022 Nov 12. Prenat Diagn. 2023. PMID: 36336873 Review.
Turner syndrome (TS), a common chromosomal abnormality affecting females, is associated with partial or complete loss of the second sex chromosome. Although the classic karyotype is 45, X, the detection of mosaic TS is increasing. TS is a multi-system disorde …
Turner syndrome (TS), a common chromosomal abnormality affecting females, is associated with partial or complete loss of the s …
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 syndrome (TS) is a genetic pathology that affects about 1/2500 newborn females. 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 …
Turner syndrome (TS) is a genetic pathology that affects about 1/2500 newborn females. Turner's syndrome is char …
Genomic imprinting and Turner syndrome.
Bondy CA, Hougen HY, Zhou J, Cheng CM. Bondy CA, et al. Pediatr Endocrinol Rev. 2012 May;9 Suppl 2:728-32. Pediatr Endocrinol Rev. 2012. PMID: 22946286 Review.
There are two potentially important aspects of imprinting that may manifest in individuals with X monosomy, or Turner syndrome (TS). Given that men are monosomic for Xm while women are mosaic for Xm:Xp, genomic imprinting of important X-linked genes should be …
There are two potentially important aspects of imprinting that may manifest in individuals with X monosomy, or Turner syndrome …
Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians.
Redel JM, Backeljauw PF. Redel JM, et al. Clin Perinatol. 2018 Mar;45(1):119-128. doi: 10.1016/j.clp.2017.11.003. Clin Perinatol. 2018. PMID: 29406001 Review.
The perinatal clinician needs to understand certain essential concepts when encountering an infant with a suspected or confirmed diagnosis of Turner syndrome. This article describes the key clinical features that should prompt testing, the appropriate diagnostic wor …
The perinatal clinician needs to understand certain essential concepts when encountering an infant with a suspected or confirmed diagnosis o …
131 results