Works about SEX chromosome abnormalities
Results: 494
Conventional Cytogenetic Analysis of Constitutional Abnormalities: 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 3, p. 211, doi. 10.5858/arpa.2024-0048-CP
- By:
- Publication type:
- Article
Mosaïcisme 47,XXY/46,XX et anomalie de la différenciation sexuelle : à propos d'un cas.
- Published in:
- Eastern Mediterranean Health Journal, 2014, v. 20, n. 6, p. 403, doi. 10.26719/2014.20.6.403
- By:
- Publication type:
- Article
Female infertility: Pathophysiology.
- Published in:
- Practice Nursing, 2007, v. 18, n. 12, p. 611, doi. 10.12968/pnur.2007.18.12.27877
- By:
- Publication type:
- Article
Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and Other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities.
- Published in:
- Pediatric & Developmental Pathology, 2016, v. 19, n. 4, p. 259, doi. 10.2350/14-06-1512-PB.1
- By:
- Publication type:
- Article
Standards for Dysmorphological Diagnosis in Human Fetuses.
- Published in:
- Pediatric & Developmental Pathology, 2003, v. 6, n. 5, p. 427, doi. 10.1007/s10024-003-1004-6
- By:
- Publication type:
- Article
Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies.
- Published in:
- Gynecologic & Obstetric Investigation, 2021, v. 86, n. 4, p. 379, doi. 10.1159/000518002
- By:
- Publication type:
- Article
Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Placental apoptosis in normal and abnormal pregnancies.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Study on Y- Chromosome Microdeletion of AZFc sY239, sY242 and sY254 Loci among Bangladeshi Infertile Male.
- Published in:
- Bangladesh Journal of Infectious Diseases, 2024, v. 11, n. 1, p. 22, doi. 10.3329/bjid.v11i1.72990
- By:
- Publication type:
- Article
Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 16, p. 1204, doi. 10.1093/jnci/dji240
- By:
- Publication type:
- Article
Patient Gender Is Associated with Distinct Patterns of Chromosomal Abnormalities and Sex Chromosome--Linked Gene-Expression Profiles in Meningiomas.
- Published in:
- Oncologist, 2007, v. 12, n. 10, p. 1225, doi. 10.1634/theoncologist.12-10-1225
- By:
- Publication type:
- Article
Inherited Disorders in Sexual Development.
- Published in:
- Journal of Heredity, 1999, v. 90, n. 1, p. 93, doi. 10.1093/jhered/90.1.93
- By:
- Publication type:
- Article
The Role of Prosthodontists in Habilitation and Rehabilitation in Rare Disorders: The Ectodermal Dysplasia Experience.
- Published in:
- International Journal of Prosthodontics, 2001, v. 14, n. 5, p. 466
- By:
- Publication type:
- Article
NF-κB in skin homeostasis.
- Published in:
- 2005
- By:
- Publication type:
- Other
Phenotypic correlations of CALR mutation variant allele frequency in patients with myelofibrosis.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00786-x
- By:
- Publication type:
- Article
The clinical performance of fetal sex chromosome abnormalities in serum biochemical screening in the second trimester.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-78724-5
- By:
- Publication type:
- Article
Non-invasive prenatal testing: what are we missing?
- Published in:
- 2021
- By:
- Publication type:
- Letter
VP06.01: Prenatal diagnosis of sex chromosome abnormalities in one tertiary diagnostic centre in Poland.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 75, doi. 10.1002/uog.22413
- By:
- Publication type:
- Article
EP04.28: Sex discordance following non‐invasive prenatal screening.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 256, doi. 10.1002/uog.21183
- By:
- Publication type:
- Article
OC02.04: Residual risk for a postnatal diagnosis and livebirth of an atypical chromosomal aberration following first trimester combined screening.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 4, doi. 10.1002/uog.20432
- By:
- Publication type:
- Article
OC02.02: Pregnancies at increased risk at first trimester screening: is searching for trisomies enough? Experiences from the Swedish Pregnancy Register.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 3, doi. 10.1002/uog.19213
- By:
- Publication type:
- Article
OP22.01: Prenatal diagnosis of sex chromosome aneuploidies before and after NIPT: an analysis of 30 years of population-based data.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 118, doi. 10.1002/uog.17898
- By:
- Publication type:
- Article
Rapp-Hodgkin Syndrome with Pili Canaliculi.
- Published in:
- Pediatric Dermatology, 1993, v. 10, n. 1, p. 54, doi. 10.1111/j.1525-1470.1993.tb00015.x
- By:
- Publication type:
- Article
Rapp-Hodgkin Ectodermal Dysplasia.
- Published in:
- Pediatric Dermatology, 1990, v. 7, n. 2, p. 126, doi. 10.1111/j.1525-1470.1990.tb00668.x
- By:
- Publication type:
- Article
Hypohidrotic Ectodermal Dysplasia: Argument Against an Autosomal Recessive Form Clinically Indistinguishable from X-Linked Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome).
- Published in:
- Pediatric Dermatology, 1989, v. 6, n. 2, p. 76, doi. 10.1111/j.1525-1470.1989.tb01002.x
- By:
- Publication type:
- Article
Hypohidrotic Ectodermal Dysplasia: A Genealogic, Stereomicroscope, and Scanning Electron Microscope Study.
- Published in:
- Pediatric Dermatology, 1988, v. 5, n. 3, p. 159, doi. 10.1111/j.1525-1470.1988.tb01162.x
- By:
- Publication type:
- Article
A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y.
- Published in:
- Andrologia, 2021, v. 53, n. 11, p. 1, doi. 10.1111/and.14213
- By:
- Publication type:
- Article
Chromosome Abnormalities and Fertility in Domestic Bovids: A Review.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 3, p. 802, doi. 10.3390/ani11030802
- By:
- Publication type:
- Article
A Large Austrian Family with Dent's Disease and a Novel CLCN5 Mutation.
- Published in:
- Kidney & Blood Pressure Research, 2004, v. 27, n. 5/6, p. 389
- By:
- Publication type:
- Article
BASAL CELL NEVUS SYNDROME AND TURNER'S SYNDROME IN A PATIENT.
- Published in:
- International Journal of Dermatology, 1971, v. 10, n. 1, p. 13, doi. 10.1111/j.1365-4362.1971.tb04455.x
- By:
- Publication type:
- Article
Sexual Functioning and Partner Relationships in Women with Turner Syndrome: Some Empirical Data and Theoretical Considerations Regarding Sexual Desire.
- Published in:
- Journal of Sex & Marital Therapy, 2007, v. 33, n. 3, p. 231, doi. 10.1080/00926230701267886
- By:
- Publication type:
- Article
Neutrophil Alkaline Phosphatase Activity in Turner Syndrome.
- Published in:
- Acta Haematologica, 1999, v. 102, n. 4, p. 201, doi. 10.1159/000041016
- By:
- Publication type:
- Article
Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación.
- Published in:
- Revista Ciencias de la Salud, 2012, v. 10, n. 1, p. 83
- By:
- Publication type:
- Article
Treatment of EBV-induced lymphoproliferative disorder with epipodophyllotoxin VP16-213.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Personality traits in women with Turner syndrome.
- Published in:
- Scandinavian Journal of Psychology, 2006, v. 47, n. 3, p. 219, doi. 10.1111/j.1467-9450.2006.00510.x
- By:
- Publication type:
- Article
The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 12, p. 2426, doi. 10.1111/aogs.14958
- By:
- Publication type:
- Article
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 2, p. 351, doi. 10.1111/aogs.14713
- By:
- Publication type:
- Article
Paroxysmal nocturnal haemoglobinuria associated with a novel phosphatidylinositol glycan class A (PIGA) mutation in a patient with Klinefelter syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Letter
A volumetric study of parietal lobe subregions in Turner syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2004, v. 46, n. 9, p. 607, doi. 10.1017/S0012162204001021
- By:
- Publication type:
- Article
White matter alterations associated with chromosomal disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2004, v. 46, n. 3, p. 148
- By:
- Publication type:
- Article
Development of prenatal genetic screening test using fetal cells in maternal blood.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A1148, doi. 10.1096/fasebj.21.6.a1148
- By:
- Publication type:
- Article
H3K27me3 Immunohistochemistry Reveals a Dotlike Expression Pattern Archetypal for Female Origin in Testicular Germ Cell Tumors.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 11, p. 1179, doi. 10.5858/arpa.2024-0049-LE
- By:
- Publication type:
- Article
Hypohidrotic ectodermal dysplasia: a unique approach to esthetic and prosthetic management: a case report.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances.
- Published in:
- Medical Journal of Australia, 2021, v. 214, n. 4, p. 168, doi. 10.5694/mja2.50928
- By:
- Publication type:
- Article
Occupational risk factors and frequency of sex chromosome disomy.
- Published in:
- Human Fertility, 2015, v. 18, n. 3, p. 200, doi. 10.3109/14647273.2015.1006693
- By:
- Publication type:
- Article
A study of aneuploidy and DNA fragmentation in spermatozoa of three men with sex chromosome mosaicism including a 45,X cell line.
- Published in:
- Human Fertility, 2015, v. 18, n. 2, p. 96, doi. 10.3109/14647273.2014.988663
- By:
- Publication type:
- Article
The origins of genetic variation between individual human oocytes and embryos: implications for infertility.
- Published in:
- Human Fertility, 2013, v. 16, n. 4, p. 241, doi. 10.3109/14647273.2013.843792
- By:
- Publication type:
- Article
Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities.
- Published in:
- Molecular Biology Reports, 2022, v. 49, n. 10, p. 9251, doi. 10.1007/s11033-022-07754-x
- By:
- Publication type:
- Article
Genomic imbalances in the placenta are associated with poor fetal growth.
- Published in:
- Molecular Medicine, 2021, v. 27, n. 1, p. 1, doi. 10.1186/s10020-020-00253-4
- By:
- Publication type:
- Article
Aortic Dissecting Aneurysm with a Bicuspid Aortic Valve in Turner's Syndrome: Report of a Case.
- Published in:
- Surgery Today, 2007, v. 37, n. 8, p. 667, doi. 10.1007/s00595-006-3462-8
- By:
- Publication type:
- Article