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A case of terminal long arm deletion of chromosome 6
(1990-10-02)
A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck ...
A case of terminal long arm deletion of chromosome 6
(1990-10-02)
A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck ...
Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome
(Elsevier B.V., 2002-06-01)
We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The ...
New recurrent deletions in the PPAR gamma and TP53 genes are associated with childhood myelodysplastic syndrome
(Pergamon-Elsevier B.V. Ltd, 2009-01-01)
Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPAR gamma and TP53 genes. Significant losses ...
New recurrent deletions in the PPAR gamma and TP53 genes are associated with childhood myelodysplastic syndrome
(Pergamon-Elsevier B.V. Ltd, 2009-01-01)
Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPAR gamma and TP53 genes. Significant losses ...
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell MunksgaardFrederiksberg CDinamarca, 2005)
The non planar vertex deletion of C-n x C-m
(Charles Babbage Res CtrWinnipegCanadá, 2005)
22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2008)
Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies ...
Analysis of Two Complementary Single-Gene Deletion Mutant Libraries of Salmonella Typhimurium in Intraperitoneal Infection of BALB/c Mice
(Frontiers Media, 2016)
Two pools of individual single gene deletion (SOD) mutants of S. Typhimurium 14028s encompassing deletions of 3,923 annotated non-essential ORFs and sRNAs were screened by intraperitoneal (IP) injection in BALB/c mice ...