Works matching DE "TRISOMY"
Results: 1426
Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.
- Published in:
- Eastern Mediterranean Health Journal, 2010, v. 16, n. 2, p. 214, doi. 10.26719/2010.16.2.214
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- Publication type:
- Article
Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46,XX, der(21) t(21;22) with pericentric inversion of chromosome 9.
- Published in:
- 2014
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- Publication type:
- Letter to the Editor
Dental Management of a Child With Trisomy 9 Mosaicism: A Case Report.
- Published in:
- Pediatric Dentistry, 2006, v. 28, n. 3, p. 265
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- Publication type:
- Article
Dexmedetomidine is Associated with an Increased Incidence of Bradycardia in Patients with Trisomy 21 After Surgery for Congenital Heart Disease.
- Published in:
- Pediatric Cardiology, 2016, v. 37, n. 7, p. 1228, doi. 10.1007/s00246-016-1421-8
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- Publication type:
- Article
Left-Ventricular Noncompaction in an Infant With Trisomy 21.
- Published in:
- 2013
- By:
- Publication type:
- Report
Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.
- Published in:
- 2021
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- Publication type:
- Case Study
Non-invasive prenatal testing (NIPT): Europe's first multicenter post-market clinical follow-up study validating the quality in clinical routine.
- Published in:
- 2017
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- Publication type:
- journal article
Adjusted risk for trisomy 21 after the anomaly scan. How accurate is the Fetal Medicine Foundation algorithm?
- Published in:
- Archives of Gynecology & Obstetrics, 2012, v. 285, n. 2, p. 367, doi. 10.1007/s00404-011-1996-5
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- Publication type:
- Article
Is the yolk sac a new marker for chromosomal abnormalities in early pregnancy?
- Published in:
- 2011
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- Publication type:
- journal article
Preliminary analysis of the new ‘Prenatal Risk Calculation (PRC)’ software.
- Published in:
- Archives of Gynecology & Obstetrics, 2009, v. 279, n. 4, p. 511, doi. 10.1007/s00404-008-0743-z
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- Publication type:
- Article
Cystic hygroma and lymphangioma: associated findings, perinatal outcome and prognostic factors in live-born infants.
- Published in:
- 2007
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- Publication type:
- journal article
A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy.
- Published in:
- Archives of Gynecology & Obstetrics, 2007, v. 276, n. 5, p. 533, doi. 10.1007/s00404-007-0378-5
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- Publication type:
- Article
Are nuchal translucency, pregnancy associated plasma protein-A or free-β-human chorionic gonadotropin depending on maternal age? A multicenter study of 8,116 pregnancies.
- Published in:
- Archives of Gynecology & Obstetrics, 2007, v. 276, n. 3, p. 259, doi. 10.1007/s00404-007-0342-4
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- Publication type:
- Article
Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Prenatal diagnosis of a supernumerary aberrant chromosome 9.
- Published in:
- Archives of Gynecology & Obstetrics, 2003, v. 268, n. 3, p. 248, doi. 10.1007/s00404-002-0355-y
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- Publication type:
- Article
Extracellular association of APP and tau fibrils induces intracellular aggregate formation of tau.
- Published in:
- Acta Neuropathologica, 2015, v. 129, n. 6, p. 895, doi. 10.1007/s00401-015-1415-2
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- Publication type:
- Article
Intraneuronal APP and extracellular Aβ independently cause dendritic spine pathology in transgenic mouse models of Alzheimer's disease.
- Published in:
- Acta Neuropathologica, 2015, v. 129, n. 6, p. 909, doi. 10.1007/s00401-015-1421-4
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- 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
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- Publication type:
- Article
Usp16 contributes to somatic stem-cell defects in Down's syndrome.
- Published in:
- Nature, 2013, v. 501, n. 7467, p. 380, doi. 10.1038/nature12530
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- Publication type:
- Article
User Experience of a Computer-Based Decision Aid for Prenatal Trisomy Screening: Mixed Methods Explanatory Study.
- Published in:
- JMIR Pediatrics & Parenting, 2022, v. 5, n. 3, p. 1, doi. 10.2196/35381
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- Publication type:
- Article
Graphical image of Trisomy Ultrascan related Total edge magic labelling.
- Published in:
- EAI Endorsed Transactions on Pervasive Health & Technology, 2024, v. 10, n. 1, p. 1, doi. 10.4108/eetpht.10.5311
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- Publication type:
- Article
Pleuropulmonary blastoma in an adult patient: Report of a case.
- Published in:
- 2007
- By:
- Publication type:
- Case Study
Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis.
- Published in:
- Turkish Journal of Medical Sciences, 2015, v. 45, n. 6, p. 1263, doi. 10.3906/sag-1312-161
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- Publication type:
- Article
Linear and Whorled Nevoid Hypermelanosis in Trisomy 13.
- Published in:
- Turkish Journal of Medical Sciences, 2009, v. 39, n. 2, p. 321
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- Publication type:
- Article
Different Segregation of Chromosomes 5 and 7 in Two Generations and Related Phenotypic Findings.
- Published in:
- Turkish Journal of Medical Sciences, 2008, v. 38, n. 4, p. 287
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- Publication type:
- Article
Correlation Between Down Syndrome and the Level of Placental Alkaline Phosphatase in Amniotic Fluid.
- Published in:
- Turkish Journal of Medical Sciences, 2005, v. 35, n. 5, p. 311
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- Publication type:
- Article
Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR.
- Published in:
- Turkish Journal of Medical Sciences, 2005, v. 35, n. 3, p. 179
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- Publication type:
- Article
Detection of Copy Number Variation by SNP-Allelotyping.
- Published in:
- Journal of Neurogenetics, 2015, v. 29, n. 1, p. 4, doi. 10.3109/01677063.2014.923884
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- Publication type:
- Article
Long-term survival of full trisomy 13 in a 14 year old male: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 21, doi. 10.3390/brainsci11010021
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- Publication type:
- Article
DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2018, v. 8, n. 10, p. 187, doi. 10.3390/brainsci8100187
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- Publication type:
- Article
Congenital diaphragmatic hernia and double-outlet right ventricle: elements of trisomy 18?
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Chronic myelomonocytic leukaemia after platinum-based therapy for non-small cell lung cancer: case report and review of the literature.
- Published in:
- Journal of Clinical Pharmacy & Therapeutics, 2006, v. 31, n. 4, p. 401, doi. 10.1111/j.1365-2710.2006.00748.x
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- Publication type:
- Article
De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00132
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- Publication type:
- Article
Increased IFN--α--induced sensitivity but reduced reactivity of 2′,5′--oligoadenylate synthetase (2,5AS) in trisomy 21 blood lymphocytes.
- Published in:
- Clinical & Experimental Immunology, 1993, v. 93, n. 1, p. 93, doi. 10.1111/1365-2249.ep15996317
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- Publication type:
- Article
Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism
- Published in:
- Ophthalmic Genetics, 2006, v. 27, n. 3, p. 103, doi. 10.1080/13816810600862543
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- Publication type:
- Article
Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter.
- Published in:
- Ophthalmic Genetics, 2005, v. 26, n. 1, p. 45, doi. 10.1080/13816810590918398
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- Publication type:
- Article
Multiple Congenital Malformations Including Severe Eye Anomalies and Abnormal Cerebellar Development with Dandy-Walker Malformation in a Girl with Partial Trisomy 3q.
- Published in:
- Ophthalmic Genetics, 2005, v. 26, n. 1, p. 37, doi. 10.1080/13816810590927217
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- Publication type:
- Article
Ocular manifestation of mosaic trisomy 22: A case report and review of the literature.
- Published in:
- Ophthalmic Genetics, 2004, v. 25, n. 1, p. 53, doi. 10.1076/opge.25.1.53.29004
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- Publication type:
- Article
Interstitial deletion of 13q and a 13;X chromosomes translocation results in partial trisomy 13 and bilateral retinoblastoma.
- Published in:
- Ophthalmic Genetics, 2003, v. 24, n. 3, p. 175, doi. 10.1076/opge.24.3.175.15612
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- Publication type:
- Article
Ophthalmic manifestations of trisomy 8 mosaic syndrome.
- Published in:
- Ophthalmic Genetics, 1998, v. 19, n. 2, p. 81, doi. 10.1076/opge.19.2.81.2324
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- Publication type:
- Article
A case of microphthalmos with cyst and partial trisomy 22.
- Published in:
- Ophthalmic Genetics, 1998, v. 19, n. 2, p. 93, doi. 10.1076/opge.19.2.93.2319
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- Publication type:
- Article
A novel mutation in the renal V2 receptor gene in a boy with trisomy 21.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 6, p. 609, doi. 10.1007/s00467-004-1446-8
- By:
- Publication type:
- Article
Development of mixed connective tissue disease and Sjögren’s syndrome in a patient with trisomy X.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Anesthetic experience for laparoscopic cholecystectomy in a patient with myelodysplastic syndrome with trisomy 8 mosaicism syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Pseudoisodicentric Xp Chromosome [46,X,psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 6, p. 416, doi. 10.1159/000357141
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- Publication type:
- Article
Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 74, n. 4, p. 297, doi. 10.1159/000309418
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- Publication type:
- Article
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 346, doi. 10.3390/genes15030346
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- Publication type:
- Article
Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1700, doi. 10.3390/genes14091700
- By:
- Publication type:
- Article