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Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3347, doi. 10.3390/ijms23063347
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- Article
Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5637, doi. 10.3390/ijms22115637
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- Article
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3431, doi. 10.3390/ijms21103431
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- Article
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 5, p. 1095, doi. 10.3390/ijms20051095
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- Article
Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 777, doi. 10.1002/ajmg.a.37504
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- Article
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 304, doi. 10.1007/s004390000364
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- Article
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.
- Published in:
- 2018
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- Publication type:
- Case Study
Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.
- Published in:
- BMC Research Notes, 2014, v. 7, n. 1, p. 2, doi. 10.1186/1756-0500-7-248
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- Article
A DNA damage response‐like phenotype defines a third of colon cancers at onset.
- Published in:
- FASEB Journal, 2023, v. 37, n. 7, p. 1, doi. 10.1096/fj.202300132R
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- Article
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0566-x
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- Article
14q32.3-qter trisomic segment: a case report and literature review.
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- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0265-5
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- Article
Investigating the role of X chromosome breakpoints in premature ovarian failure.
- Published in:
- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 32, doi. 10.1186/1755-8166-5-32
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- Publication type:
- Article
Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation.
- Published in:
- 2024
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- Publication type:
- Case Study
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1425, doi. 10.1002/ajmg.a.34010
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- Publication type:
- Article
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1575, doi. 10.1002/pd.6271
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- Article
De novo balanced chromosome rearrangements in prenatal diagnosis.
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- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 257, doi. 10.1002/pd.2215
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- Article
Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature.
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- Prenatal Diagnosis, 2005, v. 25, n. 2, p. 140, doi. 10.1002/pd.1093
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- Article
Role of FISH on Uncultured Amniocytes for the Diagnosis of Aneuploidies in the Presence of Fetal Anomalies.
- Published in:
- Fetal Diagnosis & Therapy, 2005, v. 20, n. 1, p. 1, doi. 10.1159/000081358
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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
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- Article
The use of esketamine in comorbid treatment resistant depression and obsessive compulsive disorder following extensive pharmacogenomic testing: a case report.
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- Annals of General Psychiatry, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12991-021-00365-z
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- Article
19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.
- Published in:
- 2017
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- Publication type:
- Case Study
Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women.
- Published in:
- Journal of Biomedicine & Biotechnology, 2011, p. 1, doi. 10.1155/2011/370195
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- Publication type:
- Article