Results: 491
Inter-racial genetic differences in myelofibrosis: a diverse inner-city center analysis.
- Published in:
- 2025
- By:
- Publication type:
- Letter to the Editor
Reproductive outcomes after preimplantation genetic testing in couples with sex chromosome abnormalities: a retrospective cohort study of 83 couples.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 12, p. 3415, doi. 10.1007/s10815-024-03303-6
- By:
- Publication type:
- Article
Between Concealing and Revealing Intersexed Bodies: Parental Strategies.
- Published in:
- Qualitative Health Research, 2017, v. 27, n. 10, p. 1562, doi. 10.1177/1049732317697100
- By:
- Publication type:
- Article
Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation.
- Published in:
- Russian Journal of Genetics, 2021, v. 57, n. 11, p. 1312, doi. 10.1134/S1022795421110107
- By:
- Publication type:
- 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
Validation of growth charts for girls with Turner syndrome.
- Published in:
- International Journal of Clinical Practice, 2006, v. 60, n. 2, p. 150, doi. 10.1111/j.1742-1241.2005.00633.x
- By:
- Publication type:
- Article
Premature ejaculation: presentation and associations. An audit of patients attending a sexual problems clinic.
- Published in:
- International Journal of Clinical Practice, 2005, v. 59, n. 12, p. 1482, doi. 10.1111/j.1368-5031.2005.00730.x
- By:
- Publication type:
- Article
Psychological and behavioural aspects of patients with Turner syndrome from childhood to adulthood: a review of the clinical literature.
- Published in:
- Journal of Psychosomatic Obstetrics & Gynecology, 2008, v. 29, n. 1, p. 45, doi. 10.1080/01674820701577078
- By:
- Publication type:
- Article
Psychological well-being in women with Turner syndrome: Somatic and social correlates.
- Published in:
- Journal of Psychosomatic Obstetrics & Gynecology, 2004, v. 25, n. 3/4, p. 211, doi. 10.1080/01674820400017855
- By:
- Publication type:
- Article
Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.
- Published in:
- Gynecological Endocrinology, 2021, v. 37, n. 9, p. 848, doi. 10.1080/09513590.2021.1939298
- By:
- Publication type:
- Article
Genetic counseling for sex chromosome anomalies (SCAs) in Israel and Germany: assessing medical risks according to the importance of fertility in two cultures.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1503
- By:
- Publication type:
- Article
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1297
- By:
- Publication type:
- Article
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 422, doi. 10.1002/mgg3.84
- By:
- Publication type:
- Article
Understanding Differences and Disorders of Sex Development (DSD).
- Published in:
- Pediatrics International, 2015, v. 57, n. 3, p. 504, doi. 10.1111/ped.12681
- By:
- Publication type:
- Article
45,X/46,XX/47,XXX mosaicism.
- Published in:
- Pediatrics International, 2012, v. 54, n. 3, p. 437, doi. 10.1111/j.1442-200X.2012.03626.x
- By:
- Publication type:
- Article
New reference growth charts for Japanese girls with Turner syndrome.
- Published in:
- Pediatrics International, 2009, v. 51, n. 5, p. 709, doi. 10.1111/j.1442-200X.2009.02838.x
- By:
- Publication type:
- Article
Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome.
- Published in:
- Pediatrics International, 2008, v. 50, n. 2, p. 172, doi. 10.1111/j.1442-200X.2008.02540.x
- By:
- Publication type:
- Article
Chromosomal anomalies in patients with short stature.
- Published in:
- Pediatrics International, 2005, v. 47, n. 5, p. 546, doi. 10.1111/j.1442-200x.2005.02120.x
- By:
- Publication type:
- Article
Therapy-related membranous nephropathy in juvenile idiopathic arthritis with Turner syndrome.
- Published in:
- Pediatrics International, 2004, v. 46, n. 3, p. 377, doi. 10.1111/j.1442-200x.2004.01906.x
- 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
Pelvic ultrasound evaluation in patients with Turner syndrome during treatment with growth hormone.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2003, v. 22, n. 2, p. 172, doi. 10.1002/uog.144
- By:
- Publication type:
- Article
The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation.
- Published in:
- British Journal of Dermatology, 2012, v. 166, n. 3, p. 678, doi. 10.1111/j.1365-2133.2011.10620.x
- By:
- Publication type:
- Article
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 1, p. 163, doi. 10.1111/j.1365-2133.2007.08231.x
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome.
- Published in:
- British Journal of Dermatology, 2006, v. 154, n. 3, p. 546, doi. 10.1111/j.1365-2133.2005.07102.x
- By:
- Publication type:
- Article
Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.
- Published in:
- British Journal of Dermatology, 2005, v. 152, n. 6, p. 1339, doi. 10.1111/j.1365-2133.2005.06509.x
- By:
- Publication type:
- Article
An unusual ectodermal dysplasia with unique eye defects.
- Published in:
- British Journal of Dermatology, 2005, v. 152, n. 2, p. 365, doi. 10.1111/j.1365-2133.2004.06366.x
- By:
- Publication type:
- Article
A Rare Case of a Mosaic Unbalanced Translocation After Chorionic Villous Sampling.
- Published in:
- Birth: Issues in Perinatal Care, 2013, v. 40, n. 2, p. 103, doi. 10.1111/birt.12040
- By:
- Publication type:
- Article
Turner Syndrome: A Review of Genetic and Hormonal Influences on Neuropsychological Functioning.
- Published in:
- Child Neuropsychology, 2004, v. 10, n. 4, p. 262, doi. 10.1080/09297040490909297
- By:
- Publication type:
- Article
Palatine ridges and tongue position in Turner syndrome subjects.
- Published in:
- European Journal of Orthodontics, 2008, v. 30, n. 2, p. 163, doi. 10.1093/ejo/cjm118
- By:
- Publication type:
- Article
Root growth in the permanent teeth of 45,X/46,XX females.
- Published in:
- European Journal of Orthodontics, 2006, v. 28, n. 4, p. 339, doi. 10.1093/ejo/cji121
- By:
- Publication type:
- Article
Gonadoblastoma Associated with Pure Gonadal Dysgenesis.
- Published in:
- Clinical Pediatrics, 1974, v. 13, n. 2, p. 177
- By:
- Publication type:
- Article
Recessive Sex-Linked Mental Retardation in the Absence of Other Recognizable Abnormalities.
- Published in:
- Clinical Pediatrics, 1969, v. 8, n. 11, p. 669, doi. 10.1177/000992286900801114
- By:
- Publication type:
- Article
Familial Deletion of the Short Arm of the D<sub>1</sub>-Chromosome (46, XX, 13 p-) Not Associated with Loss of Haptoglobin or Catalase Activity.
- Published in:
- Clinical Pediatrics, 1969, v. 8, n. 8, p. 453, doi. 10.1177/000992286900800808
- By:
- Publication type:
- Article
The XO State.
- Published in:
- Clinical Pediatrics, 1967, v. 6, n. 3, p. 130, doi. 10.1177/000992286700600302
- By:
- Publication type:
- Article
Hereditary Ectodermal Dysplasia.
- Published in:
- Clinical Pediatrics, 1966, v. 5, n. 7, p. 395, doi. 10.1177/000992286600500702
- 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
Review of drug treatment for female sexual dysfunction.
- Published in:
- International Journal of STD & AIDS, 2009, v. 20, n. 10, p. 671, doi. 10.1258/ijsa.2009.009206
- 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
32 Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0120-0
- By:
- Publication type:
- Article
Long-term follow-up of females with unbalanced X;Y translocations--reproductive and nonreproductive consequences.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0112-0
- By:
- Publication type:
- Article
Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X.
- Published in:
- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 23, doi. 10.1186/1755-8166-4-23
- Publication type:
- Article
Effectiveness of triploidy as a management tool for reproductive containment of farmed fish: Atlantic salmon ( Salmo salar) as a case study.
- Published in:
- Reviews in Aquaculture, 2016, v. 8, n. 3, p. 264, doi. 10.1111/raq.12092
- By:
- Publication type:
- Article
An Unexpected Detection of the Rare 48,XXYY inthe Prenatal Diagnosis of a Fetus with β-Thalassemia Major.
- Published in:
- Clinical Laboratory, 2024, v. 70, n. 10, p. 1984, doi. 10.7754/Clin.Lab.2024.240517
- By:
- Publication type:
- Article
An Unexpected Finding of Klinefelter Syndrome during Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Genetic Analysis.
- Published in:
- Clinical Laboratory, 2024, v. 70, n. 6, p. 1196, doi. 10.7754/Clin.Lab.2024.240105
- By:
- Publication type:
- Article