Works matching DE "SEX chromosome abnormalities"
Results: 490
Standards for Dysmorphological Diagnosis in Human Fetuses.
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- Pediatric & Developmental Pathology, 2003, v. 6, n. 5, p. 427, doi. 10.1007/s10024-003-1004-6
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- Article
Aortic Dissecting Aneurysm with a Bicuspid Aortic Valve in Turner's Syndrome: Report of a Case.
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- Surgery Today, 2007, v. 37, n. 8, p. 667, doi. 10.1007/s00595-006-3462-8
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- Article
A novel surgical technique in feminizing genital reconstruction: a prospective cohort case series.
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- European Journal of Medical Case Reports, 2024, v. 8, n. 4, p. 82, doi. 10.24911/ejmcr.173-1713210939
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- Article
The Ontological Priority of Being a Body.
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- Journal of Moral Theology, 2020, v. 9, n. 1, p. 153
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- Article
Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey.
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- Turkish Journal of Medical Sciences, 2017, v. 47, n. 5, p. 1447, doi. 10.3906/sag-1602-23
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- Article
Inherited Disorders in Sexual Development.
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- Journal of Heredity, 1999, v. 90, n. 1, p. 93, doi. 10.1093/jhered/90.1.93
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- Article
A unique case of trichorionic quadruplet pregnancy after oocyte donation in a patient with Turner's syndrome.
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- Gynecological Endocrinology, 2009, v. 25, n. 7, p. 460, doi. 10.1080/09513590902898247
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- Article
Birth of a boy after intracytoplasmic sperm injection using ejaculated spermatozoa from a nonmosaic klinefelter syndrome man with normal sperm motility: A case report.
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- 2022
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- Publication type:
- Case Study
Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.793894
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- Article
Chromosome Abnormalities and Fertility in Domestic Bovids: A Review.
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- Animals (2076-2615), 2021, v. 11, n. 3, p. 802, doi. 10.3390/ani11030802
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- Article
Variations in Facial Soft Tissues of Italian Individuals With Ectodermal Dysplasia.
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- Cleft Palate Craniofacial Journal, 2004, v. 41, n. 3, p. 262, doi. 10.1597/03-033.1
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- Article
Turner Syndrome: An Update and Review for the Primary Pediatrician.
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- Clinical Pediatrics, 2006, v. 45, n. 4, p. 301, doi. 10.1177/000992280604500402
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- Article
A combined cytogenetic and molecular approach for diagnosing delayed puberty.
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- Clinical Pediatrics, 1996, v. 35, n. 2, p. 62, doi. 10.1177/000992289603500202
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- Article
Klinefelter Syndrome: The Need for Early Identification and Treatment.
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- Clinical Pediatrics, 1991, v. 30, n. 3, p. 161, doi. 10.1177/000992289103000305
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- Article
The loss of fragile Y chromosomes (comment on.
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- BioEssays, 2015, v. 37, n. 9, p. 933, doi. 10.1002/bies.201500091
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- Article
Multidisciplinary approach of ectodermal dysplasia with implant retained fixed prosthesis.
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- Journal of Pharmacy & Bioallied Sciences, 2013, v. 5, p. S128, doi. 10.4103/0975-7406.113313
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- Article
Successful Treatment of Sperm DNA Fragmentation Through Ayurveda Rasayana Therapy: A Case Study.
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- Journal of Reproduction & Infertility, 2024, v. 25, n. 1, p. 60, doi. 10.18502/jri.v25i1.15201
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- Article
Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS.
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- Journal of Reproduction & Infertility, 2019, v. 20, n. 2, p. 109
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- Article
Frequency of Y Chromosome Microdeletions Among Iranian Infertile Men with Azoospermia and Severe Oligozoospermia: A Meta-analysis.
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- Journal of Reproduction & Infertility, 2016, v. 17, n. 4, p. 208
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- Article
Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay.
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- Journal of Reproduction & Infertility, 2012, v. 13, n. 3, p. 174
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- Article
Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación.
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- Revista Ciencias de la Salud, 2012, v. 10, n. 1, p. 83
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- Article
Whatit is said versus howit is said: Comprehension of affective prosody in men with Klinefelter (47,XXY) syndrome.
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- Journal of the International Neuropsychological Society, 2007, v. 13, n. 6, p. 1065, doi. 10.1017/S1355617707071044
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- Article
Socio-Emotional Problems in Boys with Sex Chromosome Aneuploidies Compared to a Clinical Sample.
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- Children's Health Care, 2015, v. 44, n. 1, p. 40, doi. 10.1080/02739615.2013.876538
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- Article
Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2017, v. 39, n. 1, p. 12, doi. 10.5152/etd.2017.15070
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- Article
Mosaic Isodicentric Y Chromosome in a Patient with Mixed Gonadal Dysgenesis.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2014, v. 36, n. 4, p. 177, doi. 10.5152/etd.2014.5663
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- Article
Unusual sex chromosomal DSD in a domestic Shorthair cat with a 37,X/38,XY mosaic karyotype.
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- 2024
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- Publication type:
- Case Study
Otolaryngologic markers for early diagnosis of turner syndrome
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- 2004
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- Publication type:
- Abstract
A patient with Turner's syndrome associated with unexplained left ventricular hypertrophy, severe left ventricular systolic dysfunction, atrial septal defect and pericardial effusion.
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- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2007, v. 7, n. 2, p. 237
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- Article
Development of prenatal genetic screening test using fetal cells in maternal blood.
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- FASEB Journal, 2007, v. 21, n. 6, p. A1148, doi. 10.1096/fasebj.21.6.a1148
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- Article
H3K27me3 Immunohistochemistry Reveals a Dotlike Expression Pattern Archetypal for Female Origin in Testicular Germ Cell Tumors.
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- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 11, p. 1179, doi. 10.5858/arpa.2024-0049-LE
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- Article
The quality of life and body image disturbances of Turner syndrome patients in Malaysia: a cross-sectional study.
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- BMC Women's Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12905-023-02745-x
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- Article
A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
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- BMC Endocrine Disorders, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12902-020-0523-8
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- Article
Sexually Antagonistic "Zygotic Drive" of the Sex Chromosomes.
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- PLoS Genetics, 2008, v. 4, n. 12, p. 1, doi. 10.1371/journal.pgen.1000313
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- Article
Recombination Hotspots Flank the Cryptococcus Mating-Type Locus: Implications for the Evolution of a Fungal Sex Chromosome.
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- PLoS Genetics, 2006, v. 3, n. 5, p. 1702, doi. 10.1371/journal.pgen.0020184
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- Publication type:
- Article
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.
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- Journal of Perinatal Medicine, 2023, v. 51, n. 7, p. 904, doi. 10.1515/jpm-2022-0552
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- Article
Preverbal skills in 8-month-old children with sex chromosome trisomies.
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- First Language, 2021, v. 41, n. 2, p. 200, doi. 10.1177/0142723720962944
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- Article
Reproductive outcomes after preimplantation genetic testing in couples with sex chromosome abnormalities: a retrospective cohort study of 83 couples.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 12, p. 3415, doi. 10.1007/s10815-024-03303-6
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- Publication type:
- Article
Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.
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- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 12, p. 2799, doi. 10.1007/s10815-022-02632-8
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- Article
Noninvasive prenatal testing ( NIPT) in Western Australia; Considerations in clinical practice.
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- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2014, v. 54, n. 5, p. 487, doi. 10.1111/ajo.12232
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- Article
Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan.
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- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2008, v. 48, n. 2, p. 155, doi. 10.1111/j.1479-828X.2008.00828.x
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- Article
Absence of Right Superior Vena Cava and Aortic Annular Hypoplasia in a Patient with Turner's Syndrome.
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- Journal of Cardiac Surgery, 2005, v. 20, n. 4, p. 375, doi. 10.1111/j.1540-8191.2005.200462.x
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- Publication type:
- Article
Cytogenetic, Y chromosome microdeletion, sperm chromatin and oxidative stress analysis in male partners of couples experiencing recurrent spontaneous abortions.
- Published in:
- 2011
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- Publication type:
- journal article
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter→q22:).
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- Archives of Gynecology & Obstetrics, 2003, v. 267, n. 3, p. 173, doi. 10.1007/s00404-001-0274-3
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- Publication type:
- Article
Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice.
- Published in:
- 2018
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- Publication type:
- journal article
Evaluation of the Efficacy of Transdermal and Injection Testosterone Therapy in Klinefelter Syndrome: A Real-Life Study.
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- Journal of the Endocrine Society, 2021, v. 5, n. 6, p. 1, doi. 10.1210/jendso/bvab062
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- Article
Haplotype Study of Intermediate-Length Alleles at the Fragile X (FMRI) Gene: ATL1, FMRb, and Microsatellite Haplotypes Differ from Those Found in Common-Size FMR1 Alleles.
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- Human Biology, 2005, v. 77, n. 1, p. 137, doi. 10.1353/hub.2005.0029
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- Publication type:
- Article
The correlation between azoospermia factor microdeletion in the Y chromosome and anti-sperm antibody generation in infertile Iraqi patients.
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- Journal of Emergency Medicine, Trauma & Acute Care, 2022, v. 2022, n. 6, p. 1, doi. 10.5339/jemtac.2022.aimco.4
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- Article
Excellence, Deviance, and Gender: Lessons From the XYY Episode.
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- American Journal of Bioethics, 2012, v. 12, n. 7, p. 27, doi. 10.1080/15265161.2012.681338
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- Article
Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients.
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- Konuralp Medical Journal / Konuralp Tip Dergisi, 2023, v. 15, n. 3, p. 383, doi. 10.18521/ktd.1299776
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- Publication type:
- Article
Chromosomal Aneuploidy Associated With Clinical Characteristics of Pregnancy Loss.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.667697
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- Publication type:
- Article