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Quoted phrase not found in phrase index: "Turner syndrome due to structural X chromosome anomalies"
Page 1
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 abnor
Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ syste
Association between clinical variations and copy number variations in cases with Turner syndrome.
Aksoy E, Cogulu O, Pariltay E, Ozen S, Ata A, Karaca E, Darcan S. Aksoy E, et al. J Pediatr Endocrinol Metab. 2022 Aug 12;35(9):1161-1168. doi: 10.1515/jpem-2022-0153. Print 2022 Sep 27. J Pediatr Endocrinol Metab. 2022. PMID: 35953302
OBJECTIVES: Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most important characteristic findings of TS. Turner
OBJECTIVES: Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately …
Turner syndrome: contemporary thoughts and reproductive issues.
Reindollar RH. Reindollar RH. Semin Reprod Med. 2011 Jul;29(4):342-52. doi: 10.1055/s-0031-1280919. Epub 2011 Oct 3. Semin Reprod Med. 2011. PMID: 21969268 Review.
Turner syndrome is a common genetic disorder that has been classically associated with a 45,X karyotype. ...Amenorrheic women with Turner syndrome truly have ovarian failure. Although I have adopted the term POI in this article for women with Turner
Turner syndrome is a common genetic disorder that has been classically associated with a 45,X karyotype. ...Amenorrheic women
The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients.
Lee YC, Huang CY, Lin CH, Cheng BW, Huang SK, Yeh SN, Lee YJ, Ting WH. Lee YC, et al. Taiwan J Obstet Gynecol. 2022 Sep;61(5):788-793. doi: 10.1016/j.tjog.2022.05.014. Taiwan J Obstet Gynecol. 2022. PMID: 36088045 Free article. Review.
Sixty-six patients were enrolled and distributed into 45,X monosomy group, X chromosome structural abnormalities group and X mosaicism group. ...CONCLUSION: The karyotypes were highly correlated with pubertal presentations at Turner syndrome
Sixty-six patients were enrolled and distributed into 45,X monosomy group, X chromosome structural abnormalities
Discordant phenotypes and 45,X/46,X,idic(Y).
Kelly TE, Franko JB, Rogol A, Golden WL. Kelly TE, et al. J Med Genet. 1998 Oct;35(10):862-4. doi: 10.1136/jmg.35.10.862. J Med Genet. 1998. PMID: 9783714 Free PMC article.
Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to …
Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalitie
Subsequent menstrual disorder after spontaneous menarche in Turner syndrome.
Komura N, Mabuchi S, Sawada K, Nishio Y, Kimura T, Komura H. Komura N, et al. Clin Endocrinol (Oxf). 2021 Jul;95(1):163-168. doi: 10.1111/cen.14449. Epub 2021 Mar 7. Clin Endocrinol (Oxf). 2021. PMID: 33617655
OBJECTIVE: Turner syndrome (TS) is a congenital disease characterized by delayed puberty, ovarian dysgenesis and short stature. ...Five patients (15.6%) had irregular menstruation and 15 (46.9%) had regular menstruation. When examined according to the structural
OBJECTIVE: Turner syndrome (TS) is a congenital disease characterized by delayed puberty, ovarian dysgenesis and short stature …
Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases.
Wyss D, DeLozier CD, Daniell J, Engel E. Wyss D, et al. Clin Genet. 1982 Feb;21(2):145-59. doi: 10.1111/j.1399-0004.1982.tb00752.x. Clin Genet. 1982. PMID: 7044622 Review.
We describe a new case of partial deletion of the long arm of the X chromosome, found in a 24-year-old female with secondary amenorrhea; the karyotype of the proposita is 46,X,del(X)(q22). ...We conclude that the above-mentioned theories, as well as those concerning …
We describe a new case of partial deletion of the long arm of the X chromosome, found in a 24-year-old female with secondary a …
Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review.
Poprawski K, Michalski M, Ławniczak M, Łacka K. Poprawski K, et al. Pol Arch Med Wewn. 2009 Jul-Aug;119(7-8):453-60. Pol Arch Med Wewn. 2009. PMID: 19776685 Free article. Review.
BACKGROUND: Cardiovascular diseases account for a threefold higher mortality in women with Turner syndrome (TS). It has also been suggested that the occurrence of these diseases is dependent on karyotype. ...The patients were categorized into 3 groups according to k …
BACKGROUND: Cardiovascular diseases account for a threefold higher mortality in women with Turner syndrome (TS). It has also b …
Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.
Chadwick BP. Chadwick BP. Chromosome Res. 2020 Jun;28(2):155-169. doi: 10.1007/s10577-019-09621-1. Epub 2019 Nov 27. Chromosome Res. 2020. PMID: 31776830 Free PMC article.
X chromosome structural abnormalities are relatively common in Turner syndrome patients, in particular X isochromosomes. Reports over the last five decades examining asynchronous DNA replication between the normal X and isochromosome have
X chromosome structural abnormalities are relatively common in Turner syndrome patients, in partic
Oral and clinical characteristics of a group of patients with Turner syndrome.
López ME, Bazán C, Lorca IA, Chervonagura A. López ME, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002 Aug;94(2):196-204. doi: 10.1067/moe.2002.121546. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002. PMID: 12221388
OBJECTIVE: The loss of the X chromosome in girls with Turner syndrome (TS) affects the shape and the size of craniofacial structures. ...About 78% of the patients had hypoplasia, 65% had reduced root length and bifurcated roots, and 100% had hig …
OBJECTIVE: The loss of the X chromosome in girls with Turner syndrome (TS) affects the shape and the size of cra …
40 results