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A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient.
- Published in:
- Calcified Tissue International, 2012, v. 91, n. 4, p. 250, doi. 10.1007/s00223-012-9631-4
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- Publication type:
- Article
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Involvement of 9q22.1-31.3 region in pyloric stenosis.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 2, p. 159, doi. 10.1111/j.1399-0004.1998.tb03721.x
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- Publication type:
- Article
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 3, p. 627, doi. 10.1111/bjh.15594
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- Publication type:
- Article
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
- Published in:
- British Journal of Haematology, 2019, v. 184, n. 6, p. 974, doi. 10.1111/bjh.15729
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- Publication type:
- Article
Trisomy 8 in philadelphia chromosome (ph<sup>1</sup>)-negative cells in the course of ph<sup>1</sup>-positive chronic myelocytic leukemia.
- Published in:
- Genes, Chromosomes & Cancer, 1992, v. 4, n. 3, p. 269, doi. 10.1002/gcc.2870040314
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- Publication type:
- Article
Gene dosage effect in acquired monosomy 7: Distinct behaviour of β-glucuronidase and phosphoserine phosphatase.
- Published in:
- Genes, Chromosomes & Cancer, 1990, v. 1, n. 3, p. 216, doi. 10.1002/gcc.2870010305
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- Publication type:
- Article
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype.
- Published in:
- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-019-0466-9
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- Publication type:
- Article
Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.
- Published in:
- European Journal of Haematology, 2012, v. 89, n. 4, p. 345, doi. 10.1111/j.1600-0609.2012.01833.x
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- Publication type:
- Article
gDNA qPCR is statistically more reliable than mRNA analysis in detecting leukemic cells to monitor CML.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-018-0387-2
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- Publication type:
- Article
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-56
- By:
- Publication type:
- Article
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.
- Published in:
- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 39, doi. 10.1186/1755-8166-5-39
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- Publication type:
- Article
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells.
- Published in:
- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 13, doi. 10.1186/1755-8166-4-13
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- Publication type:
- Article
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 1, p. 51, doi. 10.1002/gcc.22401
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- Publication type:
- Article
Comparative genomic hybridization on microarray (a- CGH) in olfactory neuroblastoma: Analysis of ten cases and review of the literature.
- Published in:
- Genes, Chromosomes & Cancer, 2015, v. 54, n. 12, p. 771, doi. 10.1002/gcc.22288
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- Publication type:
- Article
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 4, p. 375, doi. 10.1002/gcc.20301
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- Publication type:
- Article
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 40, n. 3, p. 165, doi. 10.1002/gcc.20030
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- Publication type:
- Article
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases.
- Published in:
- Genes, Chromosomes & Cancer, 2002, v. 33, n. 1, p. 93, doi. 10.1002/gcc.1214
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- Publication type:
- Article
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 17, n. 2, p. 94, doi. 10.1002/(SICI)1098-2264(199610)17:2<94::AID-GCC4>3.0.CO;2-W
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- Publication type:
- Article
Deletion of chromosome 20 in bone marrow of patients with Shwachman- Diamond syndrome, loss of the EIF6 gene and benign prognosis.
- Published in:
- British Journal of Haematology, 2012, v. 157, n. 4, p. 503, doi. 10.1111/j.1365-2141.2012.09033.x
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- Publication type:
- Article
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome.
- Published in:
- 2010
- By:
- Publication type:
- Letter
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.
- Published in:
- British Journal of Haematology, 2009, v. 145, n. 2, p. 190, doi. 10.1111/j.1365-2141.2009.07611.x
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- Publication type:
- Article
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 3, p. 580, doi. 10.1002/pbc.23401
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- Publication type:
- Article
Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.
- Published in:
- Clinical Genetics, 1988, v. 34, n. 5, p. 283, doi. 10.1111/j.1399-0004.1988.tb02879.x
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- Publication type:
- Article
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180467
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- Publication type:
- Article
Establishment and characterization of a B-cell line derived from a patient with a myelodysplastic syndrome which expresses myelomonocytic and lymphoid markers.
- Published in:
- British Journal of Haematology, 1991, v. 78, n. 2, p. 167, doi. 10.1111/j.1365-2141.1991.tb04412.x
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- Publication type:
- Article