Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Item
http://www.wikidata.org/entity/Q43075379
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeClinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardationA de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.Chromosome microarray analysis in the investigation of children with congenital heart disease.Telomeres: a diagnosis at the end of the chromosomesA 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.Prenatal diagnosis of a terminal chromosome 1 (q42-q44) deletion: original case report and review of the literature.Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature.Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum.Late diagnosis in severe and mild intellectual disability in adulthood.Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
P2860

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Item
http://www.wikidata.org/entity/Q43075379
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2001 nî lūn-bûn
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2001年の論文
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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
@en
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
@nl
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Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
@en
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932