Found: 529
Select item for more details and to access through your institution.
The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.
- Published in:
- Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 274, doi. 10.1159/000534428
- By:
- Publication type:
- Article
Investigation of the Frequency and Type of Chromosomal Abnormalities in Women Patients with Amenorrhea.
- Published in:
- Reports of Biochemistry & Molecular Biology, 2022, v. 11, n. 3, p. 450, doi. 10.52547/rbmb.11.3.450
- By:
- Publication type:
- Article
Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.
- Published in:
- Application of Clinical Genetics, 2022, v. 15, p. 27, doi. 10.2147/TACG.S357136
- By:
- Publication type:
- Article
The Role of Epigenetics in Primary Biliary Cholangitis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4873, doi. 10.3390/ijms23094873
- By:
- Publication type:
- Article
Cytogenetic abnormalities in a sample of females with premature ovarian failure.
- Published in:
- Middle East Fertility Society Journal, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s43043-022-00098-3
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Intestinal Behçet's disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study.
- Published in:
- Romanian Journal of Cardiology, 2021, v. 31, n. 4, p. 847, doi. 10.47803/rjc.2020.31.4.847
- By:
- Publication type:
- Article
Preimplantation genetic testing is not a preferred recommendation for patients with X chromosome abnormalities.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Subsequent menstrual disorder after spontaneous menarche in Turner syndrome.
- Published in:
- Clinical Endocrinology, 2021, v. 95, n. 1, p. 163, doi. 10.1111/cen.14449
- By:
- 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
- By:
- Publication type:
- Article
The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 125, doi. 10.2147/TACG.S299349
- By:
- 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
- By:
- Publication type:
- Article
The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- 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.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 783, doi. 10.3390/diagnostics10100783
- By:
- 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
- By:
- Publication type:
- Article
Role of X chromosome inactivation in the sex determination.
- Published in:
- EurAsian Journal of Biosciences, 2020, v. 14, n. 2, p. 5981
- By:
- 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.
- Published in:
- Chromosome Research, 2020, v. 28, n. 2, p. 155, doi. 10.1007/s10577-019-09621-1
- By:
- Publication type:
- Article
A primate-specific retroviral enhancer wires the XACT lncRNA into the core pluripotency network in humans.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-13551-1
- By:
- Publication type:
- Article
A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.
- Published in:
- Clinical & Experimental Dermatology, 2019, v. 44, n. 7, p. e240, doi. 10.1111/ced.13979
- By:
- Publication type:
- Article
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
Editorial: Epigenetics in Mammalian Tissues.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome.
- Published in:
- Bioscience Reports, 2019, v. 39, n. 1, p. 1, doi. 10.1042/BSR20181305
- By:
- Publication type:
- Article
Barthov syndróm - kazuistika.
- Published in:
- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2018, v. 73, n. 6, p. 384
- By:
- Publication type:
- Article
Chromosome-wide gene dosage rebalance may benefit tumor progression.
- Published in:
- Molecular Genetics & Genomics, 2018, v. 293, n. 4, p. 895, doi. 10.1007/s00438-018-1429-2
- By:
- Publication type:
- Article
Cardiovascular health in patients with premature ovarian insufficiency. Management of long-term consequences.
- Published in:
- Menopausal Review / Przegląd Menopauzalny, 2018, v. 17, n. 3, p. 109, doi. 10.5114/pm.2018.78551
- By:
- Publication type:
- Article
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
Klinefelter syndrome and fertility--Impact of X-chromosomal inheritance on spermatogenesis.
- Published in:
- Andrologia, 2018, v. 50, n. 5, p. 1, doi. 10.1111/and.13004
- By:
- Publication type:
- Article
Espectro de manifestaciones asociadas a X Frágil: descripción clínica y molecular de FMR1 en una familia Mexicana.
- Published in:
- Archivos de Neurociencias, 2018, v. 23, n. 3, p. 54
- By:
- Publication type:
- Article
Epigenetics with special reference to the human X chromosome inactivation and the enigma of Drosophila DNA methylation.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 2, p. 371, doi. 10.1007/s12041-018-0937-5
- By:
- Publication type:
- Article
Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss.
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 4, p. 363, doi. 10.1111/nan.12399
- By:
- Publication type:
- Article
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197205
- By:
- Publication type:
- Article
A novel <italic>TEX11</italic> mutation induces azoospermia: a case report of infertile brothers and literature review.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0570-4
- By:
- Publication type:
- Article
Genetics of premature ovarian failure.
- Published in:
- Eastern Journal of Medicine, 2018, v. 23, n. 2, p. 135, doi. 10.5505/ejm.2018.14622
- By:
- Publication type:
- Article
Genetic analysis of 12 X-STR loci in the Serbian population from Vojvodina Province.
- Published in:
- International Journal of Legal Medicine, 2018, v. 132, n. 2, p. 405, doi. 10.1007/s00414-017-1677-4
- By:
- Publication type:
- Article
X-chromosomal STR-based genetic structure of Sichuan Tibetan minority ethnicity group and its relationships to various groups.
- Published in:
- International Journal of Legal Medicine, 2018, v. 132, n. 2, p. 409, doi. 10.1007/s00414-017-1672-9
- By:
- Publication type:
- Article
Detecting selection signatures on the X chromosome of the Chinese Debao pony.
- Published in:
- Journal of Animal Breeding & Genetics, 2018, v. 135, n. 1, p. 84, doi. 10.1111/jbg.12314
- By:
- Publication type:
- Article
Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.
- Published in:
- British Journal of Haematology, 2018, v. 180, n. 1, p. 10, doi. 10.1111/bjh.14909
- By:
- Publication type:
- Article
A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.
- Published in:
- Clinical & Experimental Dermatology, 2018, v. 43, n. 1, p. 60, doi. 10.1111/ced.13241
- By:
- Publication type:
- Article
Maternal variant in the upstream of FOXP3 gene on the X chromosome is associated with recurrent infertility in Japanese Black cattle.
- Published in:
- BMC Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12863-017-0573-8
- By:
- Publication type:
- Article
Aberrations of the X chromosome as cause of male infertility.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 5, p. R249, doi. 10.1530/EJE-17-0246
- By:
- Publication type:
- Article
Recent advances in assays for the fragile X-related disorders.
- Published in:
- Human Genetics, 2017, v. 136, n. 10, p. 1313, doi. 10.1007/s00439-017-1840-5
- By:
- Publication type:
- Article
46, XX males: a case series based on clinical and genetics evaluation.
- Published in:
- Andrologia, 2017, v. 49, n. 7, p. n/a, doi. 10.1111/and.12710
- By:
- Publication type:
- Article
Turner syndrome caused by rare complex structural abnormalities involving chromosome X.
- Published in:
- Experimental & Therapeutic Medicine, 2017, v. 14, n. 3, p. 2265, doi. 10.3892/etm.2017.4756
- By:
- Publication type:
- Article