Epilepsy and chromosomal abnormalities
Italian Journal of Pediatrics, 2010 Background Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern.
Sorge Giovanni, Sorge Anna
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Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy [PDF]
, 1999 Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects ...
Adie, L. +4 more
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Chromosomal Abnormalities in ADHD
Pediatric Neurology Briefs, 2002 The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS), and other cytogenetic abnormalities among 100 children (64 boys) with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.
J Gordon Millichap
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Genetic Features of Metachronous Esophageal Cancer Developed in Hodgkin's Lymphoma or Breast Cancer Long-Term Survivors: An Exploratory Study. [PDF]
, 2015 Background Development of novel therapeutic drugs and regimens for cancer treatment has led to improvements in patient long-term survival. This success has, however, been accompanied by the increased occurrence of second primary cancers.
Alfieri, R +11 more
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Chromosomal abnormalities and autism
Egyptian Journal of Medical Human Genetics, 2016 Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several ...
Farida El-Baz +5 more
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Differences and homologies of chromosomal alterations within and between breast cancer cell lines: A clustering analysis [PDF]
, 2014 BACKGROUND: The MCF7 (ER+/HER2-), T47D (ER+/HER2-), BT474 (ER+/HER2+) and SKBR3 (ER-/HER2+) breast cancer cell lines are widely used in breast cancer research as paradigms of the luminal and HER2 phenotypes.
Botta, C. (Cristina) +10 more
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Chromosomal abnormalities in myelodysplastic syndrome [PDF]
, 2006 The study of chromosomal abnormalities in myelodysplastic syndrome (MDS) is important for diagnosis, prognosis, classification, follow-up, therapeutic option and for a better understanding of the biology of the disease.
Chauffaille, Maria de Lourdes Lopes Ferrari
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Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome [PDF]
Journal of Analytical Research in Clinical Medicine, 2018 Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation.
Simin Tagavi +7 more
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Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
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Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
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