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Academic Journal

From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.

  • Authors : Spaziani M; Section of Medical Pathophysiology and Endocrinology, Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.; Carlomagno F

Subjects: Klinefelter Syndrome*/Klinefelter Syndrome*/Klinefelter Syndrome*/genetics ; Klinefelter Syndrome*/Klinefelter Syndrome*/Klinefelter Syndrome*/pathology ; Aneuploidy*

  • Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jul 12; Vol. 109 (8), pp. e1564-e1573.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

41,XX Y * male mice: An animal model for Klinefelter syndrome.

  • Authors : Wistuba J; Institute of Reproductive and Regenerative Biology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, Germany.; Beumer C

Subjects: Aneuploidy*; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*genetics ; X Chromosome/X Chromosome/X Chromosome/*genetics

  • Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Jun; Vol. 184 (2), pp. 267-278. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Endocrine and metabolic evaluation of classic Klinefelter syndrome and high-grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions?

  • Authors : Spaziani M; Section of Medical Pathophysiology and EndocrinologyDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy .; Mileno B

Subjects: Aneuploidy* ; Phenotype*; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*diagnosis

  • Source: European journal of endocrinology [Eur J Endocrinol] 2018 Apr; Vol. 178 (4), pp. 343-352. Date of Electronic Publication: 2018 Jan 25.Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic investigations on causes of male infertility in Western Saudi Arabia.

  • Authors : Beg MA; King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.; Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Subjects: Aneuploidy*; Infertility, Male/Infertility, Male/Infertility, Male/*epidemiology ; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*epidemiology Male sterility due to Y-chromosome deletions

  • Source: Andrologia [Andrologia] 2019 Jul; Vol. 51 (6), pp. e13272. Date of Electronic Publication: 2019 Mar 24.Publisher: Blackwell Pub Country of Publication: Germany NLM ID: 0423506 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Survival in double aneuploidy involving trisomy 18 and sex chromosome trisomy: A case report of a 27-month-old child and a review of the literature.

  • Authors : Watabe T; Department of Pediatrics, National Hospital Organization Beppu Medical Center, Beppu, Oita, Japan.; Koga H

Subjects: Aneuploidy*; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*mortality ; Sex Chromosome Disorders/Sex Chromosome Disorders/Sex Chromosome Disorders/*mortality 47, XYY syndrome; Triple X syndrome

  • Source: Congenital anomalies [Congenit Anom (Kyoto)] 2019 Mar; Vol. 59 (2), pp. 43-46. Date of Electronic Publication: 2018 May 22.Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited

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Academic Journal

Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing.

  • Authors : Howard-Bath A; Murdoch Children's Research Institute, Public Health Genetics Group, Parkville, Victoria, Australia.; Poulton A

Subjects: Aneuploidy*; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*epidemiology ; Sex Chromosome Disorders of Sex Development/Sex Chromosome Disorders of Sex Development/Sex Chromosome Disorders of Sex Development/*epidemiology Triple X syndrome

  • Source: Prenatal diagnosis [Prenat Diagn] 2018 Dec; Vol. 38 (13), pp. 1062-1068. Date of Electronic Publication: 2018 Oct 30.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Academic Journal

47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally.

  • Authors : Liang J; Center of Reproductive Medicine, Center of Prenatal Diagnosis, First Hospital, Jilin University, Changchun, PR China.; Zhang Y

Subjects: Aneuploidy* ; Chromosomes, Human, Pair 18* ; Chromosomes, Human, X*

  • Source: Cytogenetic and genome research [Cytogenet Genome Res] 2015; Vol. 146 (3), pp. 204-10. Date of Electronic Publication: 2015 Oct 03.Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report].

  • Authors : Costa M; Servicio de Genética, Hospital Provincial Neuquén 'Dr. Eduardo Castro Rendón', provincia de Neuquén, Argentina. .; Ávila S

Subjects: Aneuploidy*; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*genetics ; Trisomy 18 Syndrome/Trisomy 18 Syndrome/Trisomy 18 Syndrome/*genetics

  • Source: Archivos argentinos de pediatria [Arch Argent Pediatr] 2017 Oct 01; Vol. 115 (5), pp. e282-e286.Publisher: Sociedad Argentina de Pediatría Country of Publication: Argentina NLM ID: 0372460 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.

  • Authors : Zhang B; Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.; Lu BY

Subjects: Aneuploidy*; DNA/DNA/DNA/*genetics ; Klinefelter Syndrome/Klinefelter Syndrome/Klinefelter Syndrome/*diagnosis 47, XYY syndrome; Triple X syndrome

  • Source: The Journal of international medical research [J Int Med Res] 2017 Apr; Vol. 45 (2), pp. 621-630. Date of Electronic Publication: 2017 Mar 30.Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Double aneuploidy of trisomy 18 and Klinefelter syndrome: prenatal diagnosis and perinatal outcome.

Subjects: Aneuploidy* ; Chromosomes, Human, Pair 18* ; Trisomy*

  • Source: Journal of perinatal medicine [J Perinat Med] 2010 Sep; Vol. 38 (5), pp. 565-6.Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Print Cited Medium: Internet ISSN: 1619-3997

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  • 1-10 of  605 results for ""Klinefelter Syndrome""