Disease: Chromosome 14 deletion
- "Minimal" holoprosencephaly in a 14q deletion syndrome patient
- 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
- 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients
- A 14q distal chromoanagenesis elucidated by whole genome sequencing
- A 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle
- A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
- A complex eIF4E locus impacts the durability of va resistance to Potato virus Y in tobacco
- A Complex Karyotype in a 68-Year-Old Patient With T-PLL
- A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
- An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14
- An unusual case of nephrotic syndrome in a microcephalic infant: Questions
- Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture
- Anesthetic Management of an Infant with a Chromosome 14q Terminal Deletion Syndrome
- Anophthalmia, Global Developmental Delay, and Severe Dysphagia in a Young Girl With 14q22q23 Microdeletion Syndrome
- BCL2 and miR-15/16: from gene discovery to treatment
- Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success
- Candidate sex-associated gene identification in Trachinotus ovatus (Carangidae) using an integrated SLAF-seq and bulked segregant analysis approach
- Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis
- Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report
- Chromosomal translocation t(11;14) and p53 deletion induced by the CRISPR/Cas9 system in normal B cell-derived iPS cells
- Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma
- Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
- Chronic lymphocytic leukemia with t(14 ;18) and trisomy 12: a case report
- Clinical and genetic features of 45,X maleness: A case report and review of the literature
- Comparison of IGH Profile Signals Using t(4;14) and IGH Break-Apart Probes by FISH in Multiple Myeloma
- Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India
- Deficiency and overexpression of <em>Rtl1</em> in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes
- Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea
- Delineation of the frequency and boundary of chromosomal copy number variations in paediatric neuroblastoma
- Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review
- Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain
- Downregulation of ZC3H14 driven by chromosome 14q31 deletion promotes hepatocellular carcinoma progression by activating integrin signaling
- Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
- Enforced expression of MIR142, a target of chromosome translocation in human B-cell tumors, results in B-cell depletion
- Enhancer adoption caused by genomic insertion elicits interdigital <em>Shh</em> expression and syndactyly in mouse
- Epstein-Barr virus-associated primary nodal T/NK-cell lymphoma shows a distinct molecular signature and copy number changes
- Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature
- First Case Report of Prader-Willi-Like Syndrome in Colombia
- Frequency, variations, and prognostic implications of chromosome 14q32 deletions in chronic lymphocytic leukemia
- From DNA human sequence to the chromatin higher order organisation and its biological meaning: Using biomolecular interaction networks to understand the influence of structural variation on spatial genome organisation and its functional effect
- Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome
- Generation of induced pluripotent stem cell line GZHMCi006-A from amniotic fluid-derived cells with deletion 14q syndrome
- Genetic analysis of a case of chromosome 14q microdeletion
- Genomic analysis of arginine vasopressin gene in riverine buffalo reveals its potential association with silent estrus behavior
- Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
- Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome
- Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
- Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing
- HIF1alpha is not a target of 14q deletion in clear cell renal cancer
- HIF1α is not a target of 14q deletion in clear cell renal cancer
- Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia
- Identification and Candidate Gene Evaluation of a Large Fast Neutron-Induced Deletion Associated with a High-Oil Phenotype in Soybean Seeds
- Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors
- Imprinting disorders in humans: a review
- Insights from the genetic characterization of central precocious puberty associated with multiple anomalies
- Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
- Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3
- Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome
- Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
- Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome
- Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype
- MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation
- Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
- MicroRNA 200a as a histologically independent marker for meningioma recurrence: Results of a four microRNA panel analysis in meningiomas
- Molecular and clinical studies in 8 patients with Temple syndrome
- Molecular characterization of small supernumerary marker chromosomes derived from chromosome 14/22 detected in adult women with fertility problems: Three case reports and literature review
- Molecular characterization of temple syndrome families with 14q32 epimutations
- Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion
- Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: SEL1L and STON2
- New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
- New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
- Newly diagnosed multiple myeloma patients carrying monoallelic deletion of the whole locus of immunoglobulin heavy chain gene have a better prognosis compared to those with t(4;14) and t(14;16)
- Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome
- Overexpression of lncRNA DLEU1 in Gastric Cancer Tissues Compared to Adjacent Non-Tumor Tissues
- Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin
- Pulmonary Infantile Hemangioma Mimicking a Congenital Cystic Adenomatoid Malformation
- Ring Chromosome 14 with a Terminal 14q32.33 Deletion
- Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification
- Seeing the diagnosis on karyotype-SOX2 and eye development
- Simultaneous Quantification of t(14;18) and HPRT Exon 2/3 Deletions in Human Lymphocytes
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms
- Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients
- Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients
- Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia
- The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
- The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome
- The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome
- The exomic landscape of t(14;18)-negative diffuse follicular lymphoma with 1p36 deletion
- The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene
- The impact of cytogenetics on duration of response and overall survival in patients with relapsed multiple myeloma (long-term follow-up results from BSBMT/UKMF Myeloma X Relapse [Intensive]): a randomised, open-label, phase 3 trial
- The marker effects of a single-step random regression model for 4 test-day traits in German Holsteins
- The marker effects of a single-step random regression model for four test-day traits in German Holstein
- The multiple myelomas - current concepts in cytogenetic classification and therapy
- The renal cancer risk allele at 14q24.2 activates a novel hypoxia-inducible transcription factor-binding enhancer of DPF3 expression
- Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation
- Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies
- UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
- Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures