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Last Updated: 10/31/2025
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Found 26 publications
A pediatric BAL case with double Ph chromosomes and trisomy 5.
Journal: Cancer genetics
Published: April 05, 2021
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
Journal: Acta biochimica Polonica
Published: April 24, 2020
Disorders of Ribosomal Proteins and Related Hematologic Diseases -Review
Journal: Zhongguo shi yan xue ye xue za zhi
Published: December 28, 2016
The molecular pathogenesis of the myelodysplastic syndromes.
Journal: European journal of haematology
Published: December 01, 2014
Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations.
Journal: European journal of haematology
Published: March 19, 2014
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Journal: European journal of human genetics : EJHG
Published: December 11, 2012
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Journal: American journal of medical genetics. Part A
Published: December 06, 2012
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
Journal: Genetic counseling (Geneva, Switzerland)
Published: October 18, 2012
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
Journal: BMC medical genetics
Published: May 22, 2012
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome.
Journal: Advances in biological regulation
Published: August 30, 2011
Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
Journal: European journal of medical genetics
Published: May 06, 2011
MN1-ETV6 fusion gene arising from MDS with 5q-.
Journal: Leukemia research
Published: January 14, 2011
Last Updated: 10/31/2025