Works matching X chromosome abnormalities
Results: 747
The Possible Role of Chronic Infection in the Etiopathogenesis of a Case of 5q-Syndrome Associated with Tuberculosis and Abnormality of the X Chromosome.
- Published in:
- Mediterranean Journal of Hematology & Infectious Diseases, 2022, v. 14, n. 1, p. 1, doi. 10.4084/MJHID.2022.079
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- Publication type:
- Article
The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.
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- Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 274, doi. 10.1159/000534428
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- Publication type:
- Article
Preimplantation genetic testing is not a preferred recommendation for patients with X chromosome abnormalities.
- Published in:
- 2021
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- Publication type:
- journal article
Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 5076, doi. 10.3390/jcm10215076
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- Publication type:
- Article
Turner syndrome caused by rare complex structural abnormalities involving chromosome X.
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- Experimental & Therapeutic Medicine, 2017, v. 14, n. 3, p. 2265, doi. 10.3892/etm.2017.4756
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- Publication type:
- Article
Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities.
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- Croatian Medical Journal, 2011, v. 52, n. 3, p. 392, doi. 10.3325/cmj.2011.52.392
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- Publication type:
- Article
Cytogenetic Analysis of CpG-Oligonucleotide DSP30 plus Interleukin-2-Stimulated Canine B-Cell Lymphoma Cells Reveals the Loss of One X Chromosome as the Sole Abnormality.
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- Cytogenetic & Genome Research, 2011, v. 135, n. 1, p. 79, doi. 10.1159/000330126
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- Article
Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes.
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- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/640563
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- Publication type:
- Article
The Skin in Turner's Syndrome.
- Published in:
- International Journal of Dermatology, 1995, v. 34, n. 12, p. 840
- Publication type:
- Article
Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.
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- Clinical Pediatric Endocrinology, 2015, v. 24, n. 4, p. 167, doi. 10.1297/cpe.24.167
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- Publication type:
- Article
Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study.
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- Romanian Journal of Cardiology, 2021, v. 31, n. 4, p. 847, doi. 10.47803/rjc.2020.31.4.847
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- Publication type:
- Article
Cytogenetic abnormalities in a sample of females with premature ovarian failure.
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- Middle East Fertility Society Journal, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s43043-022-00098-3
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- Publication type:
- Article
Subsequent menstrual disorder after spontaneous menarche in Turner syndrome.
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- Clinical Endocrinology, 2021, v. 95, n. 1, p. 163, doi. 10.1111/cen.14449
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- Publication type:
- Article
The Role of Epigenetics in Primary Biliary Cholangitis.
- Published in:
- 2022
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- Publication type:
- Literature Review
Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report.
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- 2022
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- Publication type:
- Case Study
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder.
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 3, doi. 10.1186/1471-2350-6-3
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- Publication type:
- Article
Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 815, doi. 10.1007/s00277-024-06166-0
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- Publication type:
- Article
Gonadoblastoma in Patients with Ullrich-Turner Syndrome.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 2, p. 117, doi. 10.2350/14-08-1539-OA.1
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- Publication type:
- Article
When sex matters: a complete model of X-linked diseases.
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- International Journal of General Systems, 2018, v. 47, n. 6, p. 549, doi. 10.1080/03081079.2018.1473391
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- Publication type:
- Article
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.
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- Application of Clinical Genetics, 2022, v. 15, p. 27, doi. 10.2147/TACG.S357136
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- Publication type:
- Article
The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.
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- Application of Clinical Genetics, 2021, v. 14, p. 125, doi. 10.2147/TACG.S299349
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- Publication type:
- Article
Intestinal Behçet's disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.
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- Clinical & Experimental Dermatology, 2019, v. 44, n. 7, p. e240, doi. 10.1111/ced.13979
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- Publication type:
- Article
Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.
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- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 783, doi. 10.3390/diagnostics10100783
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- Publication type:
- Article
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
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- Journal of Human Genetics, 2010, v. 55, n. 6, p. 379, doi. 10.1038/jhg.2010.49
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- Publication type:
- Article
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.
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- Arthritis & Rheumatology, 2017, v. 69, n. 11, p. 2187, doi. 10.1002/art.40207
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- Publication type:
- Article
A mother with variant Turner syndrome and two daughters with trisomy X: a case report.
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- Journal of Genetics, 2013, v. 92, n. 2, p. 313, doi. 10.1007/s12041-013-0256-9
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- Publication type:
- Article
Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent hybridization.
- Published in:
- 2019
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- Publication type:
- journal article
Role of X chromosome defects in primary biliary cirrhosis.
- Published in:
- Hepatology Research, 2007, v. 37, p. S384, doi. 10.1111/j.1872-034X.2007.00223.x
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- Publication type:
- Article
Investigation of the Frequency and Type of Chromosomal Abnormalities in Women Patients with Amenorrhea.
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- Reports of Biochemistry & Molecular Biology, 2022, v. 11, n. 3, p. 450, doi. 10.52547/rbmb.11.3.450
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- Publication type:
- Article
Cutaneous clues for diagnosing X-chromosomal disorders.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 4, p. 328, doi. 10.1111/cge.12162
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- Publication type:
- Article
Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 2, p. 181, doi. 10.1111/j.1399-0004.2009.01359.x
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- Publication type:
- Article
Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1247, doi. 10.1007/s10815-021-02127-y
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- Publication type:
- Article
Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.
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- Gynecological Endocrinology, 2021, v. 37, n. 9, p. 848, doi. 10.1080/09513590.2021.1939298
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- Publication type:
- Article
Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.
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- Chromosome Research, 2020, v. 28, n. 2, p. 155, doi. 10.1007/s10577-019-09621-1
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- Publication type:
- Article
Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.626924
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- Publication type:
- Article
Premature ovarian aging in primary infertility: Triple X syndrome.
- Published in:
- Journal of Human Reproductive Sciences, 2011, v. 4, n. 3, p. 153, doi. 10.4103/0974-1208.92292
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- Publication type:
- Article
The Menstrual Cycle.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1135, p. 10, doi. 10.1196/annals.1429.018
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- Publication type:
- Article
X chromosome variants are associated with male fertility traits in two bovine populations.
- Published in:
- Genetics Selection Evolution, 2020, v. 52, n. 1, p. 1, doi. 10.1186/s12711-020-00563-5
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- Publication type:
- Article
Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0160-5
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- Publication type:
- Article
Complex X chromosome rearrangement associated with multiorgan autoimmunity.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0152-5
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- Publication type:
- Article
Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF.
- Published in:
- Cytogenetic & Genome Research, 2021, v. 161, n. 12, p. 551, doi. 10.1159/000521655
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- Publication type:
- Article
Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 10, p. 597, doi. 10.1159/000511236
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- Publication type:
- Article
Editorial: Epigenetics in Mammalian Tissues.
- Published in:
- 2019
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- Publication type:
- Editorial
Ovarian follicles of young patients with Turner's syndrome contain normal oocytes but monosomic 45,X granulosa cells.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Anti-Müllerian hormone as a predictor of follicular reserve in ovarian insufficiency: special emphasis on FSH-resistant ovaries.
- Published in:
- Human Reproduction, 2012, v. 27, n. 3, p. 854, doi. 10.1093/humrep/der473
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- Publication type:
- Article
FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.
- Published in:
- 2002
- By:
- Publication type:
- journal article
DENTAL AND CRANIOFACIAL ANOMALIES IN A PARTICULAR CASE OF TURNER PHENOTYPE.
- Published in:
- Jurnalul Pediatrului, 2011, v. 14, n. 55/56, p. 45
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- Publication type:
- Article