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Quoted phrase not found in phrase index: "Turner syndrome due to structural X chromosome anomalies"
Page 1
Comparison of Classical and Non-Classical Turner Syndrome at NICH Karachi.
Ibrahim MN, Laghari TM, Hanif MI, Khoso ZA, Riaz M, Raza J. Ibrahim MN, et al. J Coll Physicians Surg Pak. 2018 Nov;28(11):840-843. doi: 10.29271/jcpsp.2018.11.840. J Coll Physicians Surg Pak. 2018. PMID: 30369375
OBJECTIVE: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients. ...CONCLUSION: T …
OBJECTIVE: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed pube …
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 …
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 …
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 …
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 …
Precocious puberty in Turner Syndrome: report of a case and review of the literature.
Improda N, Rezzuto M, Alfano S, Parenti G, Vajro P, Pignata C, Salerno M. Improda N, et al. Ital J Pediatr. 2012 Oct 17;38:54. doi: 10.1186/1824-7288-38-54. Ital J Pediatr. 2012. PMID: 23075274 Free PMC article. Review.
INTRODUCTION: Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. ...
INTRODUCTION: Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromoso …
Endocrine autoimmunity in Turner syndrome.
Grossi A, Crinò A, Luciano R, Lombardo A, Cappa M, Fierabracci A. Grossi A, et al. Ital J Pediatr. 2013 Dec 20;39:79. doi: 10.1186/1824-7288-39-79. Ital J Pediatr. 2013. PMID: 24355069 Free PMC article.
BACKGROUND: Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim o …
BACKGROUND: Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. …
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P. Murdock DR, et al. J Clin Endocrinol Metab. 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414. J Clin Endocrinol Metab. 2017. PMID: 28324009 Free PMC article.
CONTEXT: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). ...Simulated WES data were generated for detection of low-level mosaicism and complex stru …
CONTEXT: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is …
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 …
Turner syndrome: counseling prior to oocyte donation.
Ramos ES. Ramos ES. Sao Paulo Med J. 2007 Mar 1;125(2):112-4. doi: 10.1590/s1516-31802007000200009. Sao Paulo Med J. 2007. PMID: 17625710 Free PMC article. Review.
Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary. ...For this reason, all patients should undergo cytogenetic analysis. Ne …
Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therap …
45 results