Disease: Chromosome 14q- terminal deletion
- "Minimal" holoprosencephaly in a 14q deletion syndrome patient
- Anesthetic Management of an Infant with a Chromosome 14q Terminal Deletion Syndrome
- Dental findings in 14q terminal deletion syndrome
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
- Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature
- Further delineation of the chromosome 14q terminal deletion syndrome
- Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature
- Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
- History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?
- Lymph node hyperplasia: clonal chromosomal and genomic rearrangements. Report of two new cases and literature review
- Patterns and frequencies of acquired and constitutional uniparental isodisomies in pediatric and adult B-cell precursor acute lymphoblastic leukemia
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication
- Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
- Rearrangement of chromosome 14q with associated white matter disease
- Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation
- The ring 14 syndrome
- Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH