Works matching DE "TRISOMY 13 syndrome"
Results: 111
Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18.
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- Pediatric Cardiology, 2018, v. 39, n. 1, p. 140, doi. 10.1007/s00246-017-1738-y
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- Publication type:
- Article
A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients.
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- Pediatric Cardiology, 2015, v. 36, n. 5, p. 987, doi. 10.1007/s00246-015-1109-5
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- Publication type:
- Article
New osseous soft markers for trisomy 13, 18 and 21.
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- 2016
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- Publication type:
- journal article
Graphical image of Trisomy Ultrascan related Total edge magic labelling.
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- 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
Long-term survival of full trisomy 13 in a 14 year old male: a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Patau syndrome.
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- Paediatria Croatica, 2016, v. 60, n. 1, p. 27, doi. 10.13112/PC.2016.5
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- Publication type:
- Article
A Decade of Non-Invasive Prenatal Testing (NIPT) for Chromosomal Abnormalities in Croatia: First National Monocentric Study to Inform Country's Future Prenatal Care Strategy.
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- Genes, 2024, v. 15, n. 12, p. 1590, doi. 10.3390/genes15121590
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- Publication type:
- Article
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.
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- Genes, 2024, v. 15, n. 5, p. 568, doi. 10.3390/genes15050568
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- Publication type:
- Article
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
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- Genes, 2022, v. 13, n. 11, p. 2027, doi. 10.3390/genes13112027
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- Publication type:
- Article
Patau and Edwards Syndromes in a University Hospital: beyond palliative care.
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- Revista Paulista de Pediatria, 2024, v. 42, p. 1, doi. 10.1590/1984-0462/2024/42/2023053
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- Publication type:
- Article
Holoprosencephaly in Patau Syndrome.
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- Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022027
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- Publication type:
- Article
A patient with Trisomy 13 mosaicism: review and case report.
- Published in:
- 2015
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- Publication type:
- Conference Paper/Materials
Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.
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- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0291918
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- Publication type:
- Article
Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 -- suitability study.
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- Ginekologia Polska, 2020, v. 91, n. 3, p. 144, doi. 10.5603/GP.2020.0031
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- Publication type:
- Article
Trisomies Reorganize Human 3D Genome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16044, doi. 10.3390/ijms242216044
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- Publication type:
- Article
Role of Overexpressed Transcription Factor FOXO1 in Fatal Cardiovascular Septal Defects in Patau Syndrome: Molecular and Therapeutic Strategies.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3547, doi. 10.3390/ijms19113547
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- Publication type:
- Article
Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.
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- Pediatric Anesthesia, 2022, v. 32, n. 5, p. 631, doi. 10.1111/pan.14415
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- Publication type:
- Article
Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.
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- Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4804, doi. 10.3390/jcm13164804
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- Publication type:
- Article
Everyone has a story to tell: The experiences of grandparents with a grandchild diagnosed with a genetic life-limiting condition.
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- International Journal of Birth & Parent Education, 2015, v. 2, n. 3, p. 16
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- Publication type:
- Article
Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
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- Malaysian Journal of Pathology, 2022, v. 44, n. 2, p. 235
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- Publication type:
- Article
Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13).
- Published in:
- 2018
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- Publication type:
- Case Study
Prenatal Sonographic Features of Rare Chromosome 13 Aberrations.
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- Application of Clinical Genetics, 2022, v. 15, p. 145, doi. 10.2147/TACG.S370163
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- Publication type:
- Article
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.
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- Journal of Genetics, 2014, v. 93, p. 18, doi. 10.1007/s12041-012-0132-z
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- Publication type:
- Article
Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.
- Published in:
- 2023
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- Publication type:
- Case Study
Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes.
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- Fetal & Pediatric Pathology, 2023, v. 42, n. 3, p. 394, doi. 10.1080/15513815.2022.2158052
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- Publication type:
- Article
Dinosaur Tail Appendix in Trisomy 13.
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- 2022
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- Publication type:
- Case Study
Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development.
- Published in:
- 2017
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- Publication type:
- Case Study
Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma.
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- Congenital Anomalies, 2020, v. 60, n. 5, p. 151, doi. 10.1111/cga.12367
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- Publication type:
- Article
Cross-sectional study of epidemiology of congenital anomaly of the hand in a tertiary care centre in India over 1 year.
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- Indian Journal of Plastic Surgery, 2016, v. 49, n. 3, p. 424, doi. 10.4103/0970-0358.197231
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- Publication type:
- Article
Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.
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- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5
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- Publication type:
- Article
Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.
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- Archives of Gynecology & Obstetrics, 2024, v. 309, n. 5, p. 1971, doi. 10.1007/s00404-023-07084-8
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- Publication type:
- Article
Detection rates of a national fetal anomaly screening programme: A national cohort study.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2023, v. 130, n. 1, p. 51, doi. 10.1111/1471-0528.17287
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- Publication type:
- Article
A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.
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- Biomedicines, 2023, v. 11, n. 6, p. 1756, doi. 10.3390/biomedicines11061756
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- Publication type:
- Article
Does a High-Risk (>1/50) Result for First-Trimester Combined Screening Always Entail Invasive Testing? Which Patients from This Group Might Benefit from cfDNA Testing?
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- Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102579
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- Publication type:
- Article
Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13.
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- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 15, p. 2852
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- Publication type:
- Article
Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864076
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- Publication type:
- Article
Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2021.811414
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- Publication type:
- Article
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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- Publication type:
- Article
A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau's Syndrome.
- Published in:
- 2014
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- Publication type:
- Case Study
A IMPORTÂNCIA DOS CUIDADOS PALIATIVOS NO ACOMPANHAMENTO DA CRIANÇA COM SÍNDROME DE PATAU: RELATO DE CASO.
- Published in:
- Revista Movimenta, 2023, v. 16, n. 2, p. 263
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- Publication type:
- Article
Cochlear Implantation in a Child with Patau Syndrome.
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- Journal of International Advanced Otology, 2022, v. 18, n. 6, p. 541, doi. 10.5152/iao.2022.20074
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- Publication type:
- Article
Communicating with parents of children with trisomy 13 or 18 who seek cardiac interventions.
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- Cardiology in the Young, 2021, v. 31, n. 3, p. 471, doi. 10.1017/S1047951120004023
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- Publication type:
- Article
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0407-z
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- Publication type:
- Article
CHOOSING WISELY: ENVISIONING PERINATAL HOSPICE NOTIFICATION LAWS THAT INFORM AND EMPOWER.
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- Washington University Law Review, 2020, v. 98, n. 2, p. 587
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- Publication type:
- Article
Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.
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- Journal of Anatomy, 2015, v. 227, n. 1, p. 21, doi. 10.1111/joa.12326
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- Publication type:
- Article
Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.
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- PLoS Computational Biology, 2021, v. 17, n. 12, p. 1, doi. 10.1371/journal.pcbi.1009684
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- Publication type:
- Article
COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease.
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- SAGE Open Medical Case Reports, 2022, v. 10, p. 1, doi. 10.1177/2050313X221118732
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- Publication type:
- Article
COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease.
- Published in:
- SAGE Open Medical Case Reports, 2022, v. 10, p. 1, doi. 10.1177/2050313X221118732
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- Publication type:
- Article
Unreported Abnormality of Hepatobiliary System in Trisomy 13: Choledochal Cyst.
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- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2017, v. 11, n. 2, p. 123, doi. 10.12956/tjpd.2016.223
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- Publication type:
- Article
Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease.
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- Life (2075-1729), 2022, v. 12, n. 8, p. 1223, doi. 10.3390/life12081223
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- Publication type:
- Article