Works matching DE "TRISOMY"
Results: 1425
Exercise-Induced Pulmonary Hemorrhage in a Non-Athletic Child: Implications for Military Recruits.
- Published in:
- Military Medicine, 2025, v. 190, n. 3/4, p. e858, doi. 10.1093/milmed/usae209
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- Publication type:
- Article
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
Down Syndrome-Associated Periodontitis: A Critical Review of the Literature.
- Published in:
- Compendium of Continuing Education in Dentistry (15488578), 2012, v. 33, n. 5, p. 356
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- Publication type:
- Article
Short Sternum: Feature of Trisomy Chromosome 7 and a New Association?
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
Teratoid Hepatoblastoma with Abundant Cholangioblastic Component in a Child with Full Trisomy 13.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Uterine Neuroectodermal Tumor with Ependymoblastic Features in an Infant with Clonal +del (2)(q11.2),-13: A Possible Role of Increased Gene Dosage on 2pter-2q11.2 in the Tumorigenesis.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Pathological Findings in the Complete Trisomy 9 Syndrome: Three Case Reports and Review of the Literature.
- Published in:
- Pediatric & Developmental Pathology, 2008, v. 11, n. 1, p. 23, doi. 10.2350/06-08-0143.1
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- Publication type:
- Article
CD5-Positive B-Cell Acute Lymphoblastic Leukemia.
- Published in:
- Pediatric & Developmental Pathology, 2007, v. 10, n. 1, p. 41, doi. 10.2350/06-03-0057.1
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- Publication type:
- Article
Primary Cutaneous Marginal Zone B-Cell Lymphoma of MALT Type in a Child.
- Published in:
- Pediatric & Developmental Pathology, 2006, v. 9, n. 6, p. 468, doi. 10.2350/06-01-0006.1
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- Publication type:
- Article
Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 497, doi. 10.1007/s10024-005-0041-8
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- Publication type:
- Article
Nonimmune Hydrops Fetalis in the Liveborn: Series of 32 Autopsies.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 3, p. 369, doi. 10.1007/s10024-005-8089-z
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- Publication type:
- Article
Mosaic Duplication 1(q11q44) in an Infant With Nephroblastomatosis and Mineralization of Extraplacental Membranes.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 1, p. 115, doi. 10.1007/s10024-003-9098-4
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- Publication type:
- Article
Dysmorphic Villi Mimicking Partial Mole in a Case with del(18)(q21).
- Published in:
- Pediatric & Developmental Pathology, 2004, v. 7, n. 5, p. 546, doi. 10.1007/s10024-004-2022-8
- By:
- Publication type:
- Article
Splenopancreatic Field Abnormality Is Not Unique to Trisomy 13.
- Published in:
- Pediatric & Developmental Pathology, 2004, v. 7, n. 1, p. 91, doi. 10.1007/s10024-003-6067-x
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- Publication type:
- Article
An assessment of the vestibulo-ocular reflex (VOR) in persons with Down syndrome.
- Published in:
- Experimental Brain Research, 2011, v. 214, n. 2, p. 199, doi. 10.1007/s00221-011-2820-y
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- Publication type:
- Article
Pregnancy Loss Ascribable to Parvovirus B19/Erythrovirus Is Associated with a High Prevalence of Trisomy.
- Published in:
- Gynecologic & Obstetric Investigation, 2010, v. 70, n. 4, p. 328, doi. 10.1159/000314024
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- Publication type:
- Article
Rapid Prenatal Diagnosis of Common Aneuploidies in Amniotic Fluid Using Quantitative Fluorescent Polymerase Chain Reaction.
- Published in:
- Gynecologic & Obstetric Investigation, 2008, v. 66, n. 2, p. 104, doi. 10.1159/000128598
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- Publication type:
- Article
Pyogenic Liver Abscess Masquerading as a Hepatic Neoplasm.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Trisomy silencing by XIST: translational prospects and challenges.
- Published in:
- Human Genetics, 2024, v. 143, n. 7, p. 843, doi. 10.1007/s00439-024-02651-8
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- Publication type:
- Article
Identification of aneuploidy in dogs screened by a SNP microarray.
- Published in:
- Human Genetics, 2021, v. 140, n. 11, p. 1619, doi. 10.1007/s00439-021-02318-8
- By:
- Publication type:
- Article
INTENSIVE CARE OF NEWBORN WITH EDWARDS SYNDROME - CASE REPORT.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Mapping Genes to Chicken Microchromosome 16 and Discovery of Olfactory and Scavenger Receptor Genes Near the Major Histocompatibility Complex.
- Published in:
- Journal of Heredity, 2014, v. 105, n. 2, p. 203, doi. 10.1093/jhered/est091
- By:
- Publication type:
- Article
Establishment of a Cell Line Derived from a Canine Prostate Carcinoma with a Highly Rearranged Karyotype.
- Published in:
- Journal of Heredity, 2005, v. 96, n. 7, p. 782, doi. 10.1093/jhered/esi085
- By:
- Publication type:
- Article
Maize Tertiary Trisomic Stocks Derived From B-A Translocations.
- Published in:
- Journal of Heredity, 2002, v. 93, n. 1, p. 42, doi. 10.1093/jhered/93.1.42
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- Publication type:
- Article
X Trisomy in an Infertile Bitch: Cytogenetic, Anatomic, and Histologic Studies.
- Published in:
- Journal of Heredity, 2000, v. 91, n. 2, p. 149, doi. 10.1093/jhered/91.2.149
- By:
- Publication type:
- Article
Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3).
- Published in:
- 2014
- By:
- Publication type:
- Case Study
De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p.
- Published in:
- Collegium Antropologicum, 2014, v. 38, n. 1, p. 319
- By:
- Publication type:
- Article
Pregnant Women's Knowledge and Attitudes to Prenatal Screening for Fetal Chromosomal Abnormalities: Croatian Multicentric Survey.
- Published in:
- Collegium Antropologicum, 2013, v. 37, n. 2, p. 483
- By:
- Publication type:
- Article
Asyndromic Trisomy X Presented With Premature Ovarian Failure: A Case Report.
- Published in:
- Malaysian Journal of Medicine & Health Sciences, 2018, v. 14, p. 216
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- Publication type:
- Article
Specificity of splenopancreatic field abnormality in trisomy 13 syndrome: Macroscopic and histological analysis in 21 autopsy cases.
- Published in:
- Pathology International, 2009, v. 59, n. 3, p. 147, doi. 10.1111/j.1440-1827.2009.02342.x
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- Publication type:
- Article
Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue.
- Published in:
- Pathology International, 2007, v. 57, n. 1, p. 37, doi. 10.1111/j.1440-1827.2007.02054.x
- By:
- Publication type:
- Article
Mosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL).
- Published in:
- Blood Cancer Journal, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41408-024-01175-8
- By:
- Publication type:
- Article
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Letter
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
- By:
- 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
- By:
- Publication type:
- Article
EP06.45: Prenatal diagnosis of Temple syndrome in the second trimester.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 160, doi. 10.1002/uog.28217
- By:
- Publication type:
- Article
Influence of fibroids on cell-free DNA screening accuracy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
VP29.03: Fetal growth restriction and polyhydramnios as the only prenatal features of a rare diagnosis of Trisomy 19: about a clinical case.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 217, doi. 10.1002/uog.24444
- By:
- Publication type:
- Article
VP32.11: Silver–Russell syndrome as a consequence of partial Trisomy 11: a case report.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 191, doi. 10.1002/uog.22814
- By:
- Publication type:
- Article
VP31.06: Trisomy 16 in mosaicism.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 187, doi. 10.1002/uog.22802
- By:
- Publication type:
- Article
VP25.16: Partial Trisomy 9 q22.1–q32 and ventriculomegaly.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 165, doi. 10.1002/uog.22727
- By:
- Publication type:
- Article
VP06.04: The novel screening method based on real‐time PCR for common fetal trisomies.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 76, doi. 10.1002/uog.22416
- By:
- Publication type:
- Article
Rare autosomal trisomies on non-invasive prenatal testing: not as adverse as expected.
- Published in:
- 2019
- By:
- Publication type:
- Letter
EP05.06: Distal Trisomy 10q: a rare genetic abnormality with unusual presentation as fetal axillary lymphangioma.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 258, doi. 10.1002/uog.21191
- By:
- Publication type:
- Article
EP04.30: Detection of fetal low rate of mosaicism Trisomy 8 by next‐generation sequencing of maternal plasma and invasive diagnosis.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 257, doi. 10.1002/uog.21185
- Publication type:
- Article
EP04.08: Clinical experiences with Trisomy 13/18/21‐only NIPT and whole‐genome sequencing‐based NIPT.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 250, doi. 10.1002/uog.21163
- By:
- Publication type:
- Article
EP04.04: Trisomy 13 with normal combined first trimester screening and normal NIPT: a rare case of true fetal mosaicism.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 249, doi. 10.1002/uog.21159
- By:
- Publication type:
- Article
Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples.
- Published in:
- 2019
- By:
- Publication type:
- journal article
EP07.05: A case of double Trisomy (T21 and T18).
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 221, doi. 10.1002/uog.19882
- By:
- Publication type:
- Article
Re: Low-molecular-weight heparin associated with reduced fetal fraction and subsequent false- negative cell-free DNA test result for trisomy 21.
- Published in:
- 2018
- By:
- Publication type:
- Letter