Works about CHROMOSOME abnormalities
Results: 5000
Prevalence and Characteristics of Developmental Disabilities Among Children Who Receive Hearing Health Care.
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- American Journal of Audiology, 2025, v. 34, n. 1, p. 60, doi. 10.1044/2024_AJA-24-00118
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- Article
Myeloid neoplasms with MYC-positive double minutes: towards recognition as a distinct entity.
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- Blood Cancer Journal, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41408-025-01244-6
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- Article
Comprehensive evaluation of the toxicological effects of commonly encountered synthetic cathinones using in silico methods.
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- Toxicology Research, 2025, v. 14, n. 1, p. 1, doi. 10.1093/toxres/tfaf012
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- Article
Association of GSTM1 and GSTT1 Copy Number Variation with Chromosomal Aberrations in Nuclear Power Plant Workers Exposed to Occupational Ionizing Radiation.
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- Toxics, 2025, v. 13, n. 2, p. 73, doi. 10.3390/toxics13020073
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- Article
Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 815, doi. 10.1007/s00277-024-06166-0
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- Article
Impact of chromosomal aberrations detected by chromosome banding analysis in symptomatic Waldenström's macroglobulinemia.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 713, doi. 10.1007/s00277-024-06041-y
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- Article
Conventional Cytogenetic Analysis of Constitutional Abnormalities: 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
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- Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 3, p. 211, doi. 10.5858/arpa.2024-0048-CP
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- Article
The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.
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- Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01902-2
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- Article
ChromInst: a multicentre evaluation of robustness in aneuploidy and structural rearrangement testing.
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- Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06242-7
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- Article
Mosaïcisme 47,XXY/46,XX et anomalie de la différenciation sexuelle : à propos d'un cas.
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- Eastern Mediterranean Health Journal, 2014, v. 20, n. 6, p. 403, doi. 10.26719/2014.20.6.403
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- Article
A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran.
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- Eastern Mediterranean Health Journal, 2012, v. 18, n. 1, p. 24, doi. 10.26719/2012.18.1.24
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- Article
A Case Report of Concurrent IDH1 and NPM1 Mutations in a Novel t(X;2)(q28;p22) Translocation in Acute Myeloid Leukaemia without Maturation (AML-M1).
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- Malaysian Journal of Medical Sciences, 2015, v. 22, n. 5, p. 93
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- Article
Genetic Aberrations in Childhood Acute Lymphoblastic Leukaemia: Application of High-Density Single Nucleotide Polymorphism Array.
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- Malaysian Journal of Medical Sciences, 2010, v. 17, n. 3, p. 5
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- Article
CYTOGENETIC AND GENOTOXICITY STUDY ON SPRAY PAINTERS IN SELANGOR, MALAYSIA- A PRELIMINARY REPORT.
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- Malaysian Journal of Medical Sciences, 2007, v. 14, p. 197
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- Article
NONRANDOM DICENTRIC (9;12)TRANSLOCATION IN ACUTE LYMPHOBLASTIC LEUKEMIA -- A CASE REPORT.
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 205
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- Article
FLUROSENCE IN SITU HYBRIDIZATION (FISH) DETECTION OF CHROMOSOME 15Q11-Q13 DELETION IN PRADER -- WILLI AND ANGELMAN SYNDROME PATIENTS.
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 202
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- Article
Absence of microdeletions in the azoospermia-factor region of the Y-chromosome in Viennese men seeking assisted reproduction.
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- Wiener Klinische Wochenschrift, 2003, v. 115, n. 23, p. 831, doi. 10.1007/BF03041043
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- Article
MODIFYING EFFECT OF VITAMIN E ON ADRIAMYCIN AND CYCLOPHOSPHAMIDE INDUCED GENOTOXICITY AND ANTIOXIDANT STATUS IN RATS.
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- Veterinarija ir Zootechnika, 2013, v. 65, n. 87, p. 72
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- Article
MODIFYING EFFECT OF VITAMIN E AND ETHANOL ON BENZO[a]PYRENE INDUCED CHROMOSOME DAMAGE IN MICE BONE MARROW CELLS.
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- Veterinarija ir Zootechnika, 2011, v. 53, n. 75, p. 56
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- Article
Preliminary analysis of genomic abnormalities in canine meningiomas.
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- Veterinary & Comparative Oncology, 2008, v. 6, n. 3, p. 182, doi. 10.1111/j.1476-5829.2008.00159.x
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- Article
Quercetin induces structural chromosomal aberrations and uncommon rearrangements in bovine cells transformed by the E7 protein of bovine papillomavirus type 4.
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- Veterinary & Comparative Oncology, 2003, v. 1, n. 1, p. 15, doi. 10.1046/j.1476-5829.2003.00008.x
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- Article
Genome-wide association analysis in domestic animals: a powerful approach for genetic dissection of trait loci.
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- Genetica, 2009, v. 136, n. 2, p. 341, doi. 10.1007/s10709-008-9312-4
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- Article
Expansion of symmetric exon-bordering domains does not explain evolution of lineage specific genes in mammals.
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- Genetica, 2007, v. 131, n. 1, p. 59, doi. 10.1007/s10709-006-9113-6
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- Article
Karyotype and chromosomal characteristics of AgâNOR sites and 5S rDNA in European smelt, Osmerus eperlanus.
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- Genetica, 2007, v. 131, n. 1, p. 29, doi. 10.1007/s10709-006-9110-9
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- Article
Chromosome banding in three species of Hypsiboas (Hylidae, Hylinae), with special reference to a new case of B-chromosome in anuran frogs and to the reduction of the diploid number of 2n = 24 to 2n = 22 in the genus.
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- Genetica, 2007, v. 130, n. 3, p. 281, doi. 10.1007/s10709-006-9105-6
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- Article
Cytogenetic and cytometric analyses in artificial intercytotypic hybrids of the emergent orchid model species Erycina pusilla.
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- Euphytica, 2015, v. 206, n. 2, p. 533, doi. 10.1007/s10681-015-1534-9
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- Article
Meiotic behavior in interspecific hybrids between Brachiaria ruziziensis and Brachiaria brizantha (Poaceae).
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- Euphytica, 2005, v. 145, n. 1/2, p. 155, doi. 10.1007/s10681-005-0893-z
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- Article
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non‐progressive infantile ataxia on chromosome 20q11‐q13.
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- Developmental Dynamics, 2007, v. 236, n. 3, p. 843, doi. 10.1002/dvdy.21064
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- Article
Resting-state fMRI and social cognition: An opportunity to connect.
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- Human Psychopharmacology: Clinical & Experimental, 2017, v. 32, n. 5, p. n/a, doi. 10.1002/hup.2627
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- Article
Absent Aortic Valve in DiGeorge Syndrome.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 61, doi. 10.2350/15-03-1616-CR.1
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- Article
Childhood Nodal Marginal Zone Lymphoma with Unusual Clinicopathologic and Cytogenetic Features for the Pediatric Variant: A Case Report.
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- 2015
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- Case Study
Gonadoblastoma in Patients with Ullrich-Turner Syndrome.
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- Pediatric & Developmental Pathology, 2015, v. 18, n. 2, p. 117, doi. 10.2350/14-08-1539-OA.1
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- Article
Complex Brain Malformations Associated with Chromosome 6q27 Gain that Includes THBS2, Which Encodes Thrombospondin 2, an Astrocyte-Derived Protein of the Extracellular Matrix.
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- 2015
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- Publication type:
- Case Study
Coronal Vertebral Clefts: A Radiological Indicator for Chromosomal Aberrations.
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- Pediatric & Developmental Pathology, 2013, v. 16, n. 1, p. 1, doi. 10.2350/12-04-1186-OA.1
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- Article
A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 5, p. 393, doi. 10.2350/11-07-1059-CR.1
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- Article
Fetal Central Nervous System Injury in Third Trimester Stillbirth: A Clinicopathologic Study of 63 Cases.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 5, p. 375, doi. 10.2350/12-01-1137-OA.1
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- Article
Development of Fetal Intestinal Length during 2nd-Trimester in Normal and Pathologic Pregnancies.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 24, doi. 10.2350/11-07-1057-OA.1
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- Article
Implementation and Experience of an Alternative QF-PCR and MLPA Diagnostic Strategy to Detect Chromosomal Abnormalities in Fetal and Neonatal Pathology Samples.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 460, doi. 10.2350/11-01-0971-OA.1
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- Article
Undifferentiated Embryonal Sarcoma of the Liver Is Associated with Mesenchymal Hamartoma and Multiple Chromosomal Abnormalities: A Review of Eleven Cases.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 2, p. 111, doi. 10.2350/09-07-0681-OA.1
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- Article
SINGLE UMBILICAL ARTERY AND ASSOCIATED MALFORMATIONS IN OVER 5,500 AUTOPSIES. RELEVANCE FOR PERINATAL MANAGEMENT.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 3, p. 1
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- Article
Coexistence of a Choriocarcinoma and a Gonadoblastoma in the Gonad of a 46,XY Female: A Single Nucleotide Polymorphism Array Analysis.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 1, p. 66, doi. 10.2350/09-02-0606-CR.1
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- Article
Mediastinal Lipoblastomatosis: Report of a Case with Complex Karyotype and Review of the Literature.
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- 2009
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- Publication type:
- Case Study
Hepatic Mesenchymal Hamartoma: Cytogenetic Analysis of a Case and Review of the Literature.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 4, p. 295, doi. 10.2350/07-02-0225.1
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- Article
Immunosuppression-Related Fibroproliferative Polyps: A Substantial Subset of Acquired Pediatric Mucocutaneous Polyps.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 1, p. 30, doi. 10.2350/07-03-0245.1
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- Article
CD5-Positive B-Cell Acute Lymphoblastic Leukemia.
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- Pediatric & Developmental Pathology, 2007, v. 10, n. 1, p. 41, doi. 10.2350/06-03-0057.1
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- Article
Tetralogy of Fallot, Hypertrophic Cardiomyopathy, and Down's Syndrome: A Rare and Challenging Combination.
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- Pediatric & Developmental Pathology, 2006, v. 9, n. 4, p. 307, doi. 10.2350/10-05-0113.1
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- Article
Cytogenetic and p53 Profiles in Congenital Cystic Adenomatoid Malformation: Insights into its Relationship with Pleuropulmonary Blastoma.
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- Pediatric & Developmental Pathology, 2006, v. 9, n. 3, p. 190, doi. 10.2350/06-01-0025.1
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- Article
Aneurysmal Bone Cysts Express Vascular Markers.
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- Pediatric & Developmental Pathology, 2006, v. 9, n. 1, p. 38, doi. 10.2350/06-05-0070.1
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- Article
Genetic Haploinsufficiency as a Phenotypic Determinant of a Deletion 13q Syndrome.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 658, doi. 10.1007/s10024-005-0066-z
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- Article
Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 497, doi. 10.1007/s10024-005-0041-8
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- Article