Search Results - "Shaham, Meira"
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Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
Published in Molecular cytogenetics (27-11-2023)“…Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or…”
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Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy
Published in Leukemia research reports (01-01-2023)“…Transient abnormal myelopoiesis (TAM) is a transient, clonal myeloproliferative disorder unique to Down Syndrome (DS) babies. It is characterized by increased…”
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3
eP057 - A new translocation partner for CBFB in acute myeloid leukemia, t(10;16)(p13;q22)
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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A new translocation partner for CBFB in acute myeloid leukemia, t(10;16)(p13;q22)
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Duplication of 5q15-q23.2: Case report and literature review
Published in Birth defects research. A Clinical and molecular teratology (01-04-2006)“…BACKGROUND Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic…”
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Duplication of 5q15-q23.2: Case report and literature review
Published in Birth defects research. A Clinical and molecular teratology (01-04-2006)“…BACKGROUND Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic…”
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Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy
Published in Leukemia research reports (01-01-2023)“…IntroductionTransient abnormal myelopoiesis (TAM) is a transient, clonal myeloproliferative disorder unique to Down Syndrome (DS) babies. It is characterized…”
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Prenatal diagnosis of trisomy 3 mosaicism
Published in Prenatal diagnosis (01-09-2004)“…Objectives To present the clinical, cytogenetic, and molecular cytogenetic findings of prenatally diagnosed trisomy 3 mosaicism. Case and Methods Trisomy 3…”
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Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype
Published in Journal of medical genetics (01-10-1998)“…We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent,…”
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Small marker chromosome mosaicism confirmed in two cases ascertained prenatally
Published in American journal of medical genetics (1978)“…Two cases of chromosomal mosaicism were prenatally diagnosed and confirmed in tissues cultured from subsequently aborted fetuses. In both cases a small marker…”
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Ethnic Intermarriage and Its Consequences for Cystic Fibrosis Carrier Screening
Published in American journal of preventive medicine (01-07-1995)“…Cystic fibrosis gene mutations can vary in frequency between different ethnic populations. However, there is a rising trend of ethnic intermarriage in the…”
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12
The ataxia telangiectasia clastogenic factor is a low molecular weight peptide
Published in Human genetics (01-01-1981)Get full text
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13
Increased level of bleomycin-induced chromosome breakage in ataxia telangiectasia skin fibroblasts
Published in Cancer research (Chicago, Ill.) (01-09-1983)“…Ataxia telangiectasia (AT) is an autosomal recessive disorder in which increased level of chromosome breakage and specific sensitivity to radiation and…”
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Transfection of Normal Human and Chinese Hamster DNA Corrects Diepoxybutane-Induced Chromosomal Hypersensitivity of Fanconi Anemia Fibroblasts
Published in Proceedings of the National Academy of Sciences - PNAS (01-08-1987)“…Cultured cells from individuals affected with Fanconi anemia (FA) exhibit spontaneous chromosome breakage and hypersensitivity to the cell killing and…”
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Prenatal diagnosis of ataxia telangiectasia
Published in The Journal of pediatrics (01-01-1982)Get more information
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Chromosome breakage in Fanconi's anemia and normal cells following in vitro and in vivo cocultivation
Published in Cancer genetics and cytogenetics (01-12-1986)“…Studies of Fanconi's anemia (FA) have been in conflict as to the existence of a clastogenic factor. Two male FA patients who received bone marrow transplants…”
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Transformation of chromosome breakage syndrome fibroblasts by SV40 DNA transfection
Published in Cancer genetics and cytogenetics (01-02-1986)“…SV40 DNA was transfected into three Fanconi's anemia, two classical ataxia-telangiectasia, two variant ataxia-telangiectasia, three Bloom's syndrome, and three…”
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