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A new case of proximal 10q partial trisomy
(BMJ Publishing Group, 1991)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for ...
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
(Funpec-editora, 2009-01-01)
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case ...
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
(Funpec-editora, 2009-01-01)
The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case ...
Cell lines derived from hippocampal neurons of the normal and trisomy 16 mouse fetus (a model for Down syndrome) exhibit neuronal markers, cholinergic function, and functional neurotransmitter receptors
(Academic Press Inc., 2002)
We have established hippocampal cell lines from normal and trisomy 16 fetal mice, a model of human trisomy 21. Both cell lines, named H1b (derived from a normal animal) and HTk (trisomic) possess neuronal markers by ...
Trisomy 9, trisomy 13 and trisomy 18: Results of the prenatal cytogenical analysis, Hospital Clínico Universidad de Chile, years 2000-2017 Trisomía 9, trisomía 13 y trisomía 18: Resultados del análisis citogenético prenatal, Hospital Clínico Universidad de Chile, años 2000-2017
(Sociedad Chilena de Obstetricia y GinecologiaRoman Diaz 205, Officina 205, 2020)
Isolated trisomy 11 in de novo acute myeloid leukemia
(Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, 2008-01-01)
The real mechanism involved in trisomies and leukemogenesis remains unknown and more information about this connection is essential, but unfortunately the clinical outcome and hematological profile of patients with isolated ...
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
(Funpec-editora, 2014)
Small-molecule aggregation inhibitors reduce excess amyloid in a trisomy 16 mouse cortical cell line
(Sociedad de Biología de Chile, 2008)
Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes
(Wiley-Blackwell, 2008-10-15)
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched ...