Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 13; Vol. 19 (1), pp. 119. Date of Electronic Publication: 2024 Mar 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.

Authors : Mansoorshahi S; Department of Internal Medicine, John P. and Katherine G. McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.116, Houston, TX, 77030, USA.; Scurlock C

Subjects: Turner Syndrome*; Humans ; United States

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 11; Vol. 19 (1), pp. 112. Date of Electronic Publication: 2024 Mar 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Experience of copy number variation sequencing applied in spontaneous abortion.

Authors : Dai YF; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.

Subjects: Abortion, Spontaneous*/Abortion, Spontaneous*/Abortion, Spontaneous*/genetics ; Turner Syndrome*; Pregnancy

Source: BMC medical genomics [BMC Med Genomics] 2024 Jan 08; Vol. 17 (1), pp. 15. Date of Electronic Publication: 2024 Jan 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.

Authors : Shen W; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Li Y

Subjects: Turner Syndrome*/Turner Syndrome*/Turner Syndrome*/complications ; Turner Syndrome*/Turner Syndrome*/Turner Syndrome*/genetics ; Gonadoblastoma*/Gonadoblastoma*/Gonadoblastoma*/genetics

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2300. Date of Electronic Publication: 2023 Oct 12.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report.

Authors : Al Khudari R; Department of Paediatrics, Faculty of Medicine, Damascus University, Damascus, Syria. .; Batesh D

Subjects: Hemophilia A*/Hemophilia A*/Hemophilia A*/complications ; Hemophilia A*/Hemophilia A*/Hemophilia A*/genetics ; Hemophilia A*/Hemophilia A*/Hemophilia A*/diagnosis

Source: Journal of medical case reports [J Med Case Rep] 2023 Nov 18; Vol. 17 (1), pp. 480. Date of Electronic Publication: 2023 Nov 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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The quality of life and body image disturbances of Turner syndrome patients in Malaysia: a cross-sectional study.

Authors : Yusof AAB; Department of Obstetrics and Gynaecology, Faculty of Medicine, The National University of Malaysia (UKM), Jalan Yaacob Latif, Bandar Tun Razak, Cheras, 56000, Kuala Lumpur, Malaysia.; Chii MLS

Subjects: Body Image*/Body Image*/Body Image*/psychology ; Quality of Life*/Quality of Life*/Quality of Life*/psychology ; Turner Syndrome*/Turner Syndrome*/Turner Syndrome*/complications

Source: BMC women's health [BMC Womens Health] 2023 Nov 17; Vol. 23 (1), pp. 614. Date of Electronic Publication: 2023 Nov 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101088690 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6874

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Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs.

Authors : Luo Y; Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology, Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory of Maternal-Fetal Medicine, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China. .; Biologics Test and Evaluation Center, Guangzhou Laboratory, Guangzhou, 510005, China. .

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Turner Syndrome*/Turner Syndrome*/Turner Syndrome*/genetics; Humans

Source: Stem cell research & therapy [Stem Cell Res Ther] 2023 Dec 20; Vol. 14 (1), pp. 376. Date of Electronic Publication: 2023 Dec 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512

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What do families affected by Turner Syndrome think of ovarian tissue freezing in childhood?

Authors : Fearon K; Centre for Reproduction Research, De Montfort University, Leicester, UK.

Subjects: Turner Syndrome*/Turner Syndrome*/Turner Syndrome*/complications ; Fertility Preservation* ; Primary Ovarian Insufficiency*

Source: Human fertility (Cambridge, England) [Hum Fertil (Camb)] 2023 Dec; Vol. 26 (2), pp. 355-364. Date of Electronic Publication: 2023 Apr 27.Publisher: Taylor & Francis Country of Publication: England NLM ID: 100888143 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.

Authors : Brito LA; Neuromuscular Unit of Neurology Department From Hospital Geral de Fortaleza, Ceará, Brazil.; Nóbrega PR

Subjects: Peripheral Nervous System Diseases*/Peripheral Nervous System Diseases*/Peripheral Nervous System Diseases*/diagnostic imaging ; Peripheral Nervous System Diseases*/Peripheral Nervous System Diseases*/Peripheral Nervous System Diseases*/genetics ; Peripheral Nervous System Diseases*/Peripheral Nervous System Diseases*/Peripheral Nervous System Diseases*/complications 46, XY female

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Oct; Vol. 44 (10), pp. 3691-3696. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Reduced effects of social feedback on learning in Turner syndrome.

Authors : Björlin Avdic H; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden. .; Strannegård C

Subjects: Turner Syndrome*; Humans ; Female

Source: Scientific reports [Sci Rep] 2023 Sep 22; Vol. 13 (1), pp. 15858. Date of Electronic Publication: 2023 Sep 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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