Works matching DE "SEX chromosome abnormalities"
Results: 500
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
Human Behavior Cytogenetics: Review of Psychopathology in Three Syndromes--47,XXY; 47,XYY; and 45,X.
- Published in:
- Journal of Sex Research, 1975, v. 11, n. 3, p. 181, doi. 10.1080/00224497509550895
- By:
- Publication type:
- Article
Noninvasive prenatal testing ( NIPT) in Western Australia; Considerations in clinical practice.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2014, v. 54, n. 5, p. 487, doi. 10.1111/ajo.12232
- By:
- Publication type:
- Article
Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2008, v. 48, n. 2, p. 155, doi. 10.1111/j.1479-828X.2008.00828.x
- By:
- 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
- By:
- Publication type:
- journal article
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter→q22:).
- Published in:
- Archives of Gynecology & Obstetrics, 2003, v. 267, n. 3, p. 173, doi. 10.1007/s00404-001-0274-3
- By:
- Publication type:
- Article
Pulmonary Varix Mimicking Pulmonary Arteriovenous Malformation in a Patient with Turner Syndrome.
- Published in:
- Respiration, 2007, v. 74, n. 1, p. 110, doi. 10.1159/000087181
- By:
- Publication type:
- Article
Teratoma with trisomy 16 in a baboon (Papio hamadryas ).
- Published in:
- American Journal of Primatology, 1998, v. 46, n. 4, p. 323, doi. 10.1002/(SICI)1098-2345(1998)46:4<323::AID-AJP4>3.0.CO;2-B
- By:
- Publication type:
- Article
Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae076
- By:
- Publication type:
- Article
Klinefelter syndrome with long-arm X-chromosome deletion.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey.
- Published in:
- Turkish Journal of Medical Sciences, 2017, v. 47, n. 5, p. 1447, doi. 10.3906/sag-1602-23
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
ECTODERMAL DYSPLASIA.
- Published in:
- Quintessence International, 2003, v. 34, n. 6, p. 482
- By:
- Publication type:
- Article
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 15, p. 7101
- By:
- Publication type:
- Article
Are asymmetric inheritance systems an evolutionary trap? Transitions in the mechanism of paternal genome loss in the scale insect family Eriococcidae.
- Published in:
- Genetics, 2023, v. 224, n. 3, p. 1, doi. 10.1093/genetics/iyad090
- By:
- Publication type:
- Article
Three recent sex chromosome-to-autosome fusions in a Drosophila virilis strain with high satellite DNA content.
- Published in:
- Genetics, 2023, v. 224, n. 2, p. 1, doi. 10.1093/genetics/iyad062
- By:
- Publication type:
- Article
CLAMP regulates zygotic genome activation in Drosophila embryos.
- Published in:
- Genetics, 2021, v. 219, n. 2, p. 1, doi. 10.1093/genetics/iyab107
- By:
- Publication type:
- Article
Extensive Recombination Suppression and Epistatic Selection Causes Chromosome-Wide Differentiation of a Selfish Sex Chromosome in Drosophila pseudoobscura.
- Published in:
- Genetics, 2020, v. 216, n. 1, p. 205, doi. 10.1534/genetics.120.303460
- By:
- Publication type:
- Article
Clinical and social characteristics of Korean men with Klinefelter syndrome.
- Published in:
- International Journal of Urology, 2012, v. 19, n. 5, p. 443, doi. 10.1111/j.1442-2042.2012.02964.x
- By:
- Publication type:
- Article
Nephrogenic adenoma of the bladder in a girl with Turner's syndrome: An unusual association.
- Published in:
- International Journal of Urology, 2004, v. 11, n. 9, p. 795, doi. 10.1111/j.1442-2042.2004.00890.x
- By:
- Publication type:
- Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01162
- By:
- Publication type:
- Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01162
- By:
- Publication type:
- Article
Why do parents prefer to know the fetal sex as part of invasive prenatal testing?
- Published in:
- 2012
- By:
- Publication type:
- journal article
A Rare Case of a Male with 45, XO, SRY+, ZFY+ with Short Stature and Mild Turner Stiqmata.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 2, p. 127, doi. 10.1159/000339157
- By:
- Publication type:
- Article
Analyses from a Centre of Short- and Long-Term Growth in Turner's Syndrome on Standard Growth Hormone Doses Confirm Growth Prediction Algorithms and Show Normal IGF-I Levels.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 4, p. 214, doi. 10.1159/000336806
- By:
- Publication type:
- Article
Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 76, n. 3, p. 193, doi. 10.1159/000329046
- By:
- Publication type:
- Article
Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Hormones and Genes of Importance in Bone Physiology and Their Influence on Bone Mineralization and Growth in Turner Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 3, p. 161, doi. 10.1159/000284356
- By:
- Publication type:
- Article
Tall Stature and Gonadal Dysgenesis in a Non-Mosaic Girl 45,X.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 3, p. 210, doi. 10.1159/000284364
- By:
- Publication type:
- Article
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 478, doi. 10.3390/genes12040478
- By:
- Publication type:
- Article
Association Between Venous Leg Ulcers and Sex Chromosome Anomalies in Men.
- Published in:
- Acta Dermato-Venereologica, 2010, v. 90, n. 6, p. 612, doi. 10.2340/00015555-0949
- By:
- Publication type:
- Article
Successful Treatment of Sperm DNA Fragmentation Through Ayurveda Rasayana Therapy: A Case Study.
- Published in:
- Journal of Reproduction & Infertility, 2024, v. 25, n. 1, p. 60, doi. 10.18502/jri.v25i1.15201
- By:
- Publication type:
- Article
Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development.
- Published in:
- Sexual Development, 2018, v. 12, n. 1-3, p. 30, doi. 10.1159/000479572
- By:
- Publication type:
- Article
Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Test Yourself #4, 2021.
- Published in:
- Journal of the Association of Genetic Technologists, 2021, v. 47, n. 4, p. 229
- By:
- Publication type:
- Article
Test Yourself #3, 2021.
- Published in:
- Journal of the Association of Genetic Technologists, 2021, v. 47, n. 3, p. 135
- By:
- Publication type:
- Article
ISCN 2020. An International System for Human Cytogenomic Nomenclature (2020).
- Published in:
- Journal of the Association of Genetic Technologists, 2021, v. 47, n. 3, p. 133
- By:
- Publication type:
- Article
Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure.
- Published in:
- Psychiatry & Clinical Neurosciences, 2000, v. 54, n. 4, p. 487, doi. 10.1046/j.1440-1819.2000.00740.x
- By:
- Publication type:
- Article
Myotonic dystrophy associated with 47 XYY syndrome.
- Published in:
- 2000
- By:
- Publication type:
- Case Study
Síndrome del varón 46 XX. Reporte de un caso.
- Published in:
- Ginecología y Obstetricia de México, 2021, v. 89, n. 2, p. 176, doi. 10.24245/gom.v89i2.4445
- By:
- Publication type:
- Article
Prenatal quantitation of number of X-chromosomes by slot blot hybridization and autoradiography.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Environmental Exposure to Polychlorinated Biphenyls and p,p′-DDE and Sperm Sex-Chromosome Disomy.
- Published in:
- Environmental Health Perspectives, 2012, v. 120, n. 4, p. 535, doi. 10.1289/ehp.1104017
- By:
- Publication type:
- Article
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
Corpus callosum and posterior fossa development in monozygotic females: a morphometric MRI study of Turner syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2003, v. 45, n. 5, p. 320, doi. 10.1017/S0012162203000604
- By:
- Publication type:
- Article
Managing infertility in patients with Klinefelter syndrome.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2014, v. 9, n. 3, p. 239, doi. 10.1586/17446651.2014.896738
- By:
- Publication type:
- Article
Short stature homeobox-containing gene and idiopathic short stature.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2009, v. 4, n. 3, p. 241, doi. 10.1586/eem.09.5
- By:
- Publication type:
- Article
Turner syndrome: update on current therapies.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2007, v. 2, n. 3, p. 359, doi. 10.1586/17446651.2.3.359
- By:
- Publication type:
- Article
Amenorrhoea, low body weight and Turner's syndrome.
- Published in:
- Journal of the Royal Society of Medicine, 1985, v. 78, n. 5, p. 413, doi. 10.1177/014107688507800516
- By:
- Publication type:
- Article