Works matching DE "HUMAN deletion mutation"
Results: 54
Association between an HLA-G 14 bp insertion/deletion polymorphism and non-segmental vitiligo in the Korean population.
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- Archives of Dermatological Research, 2014, v. 306, n. 6, p. 577, doi. 10.1007/s00403-014-1459-5
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- Article
Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene - a case report.
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- Haemophilia, 2013, v. 19, n. 5, p. e310, doi. 10.1111/hae.12190
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- Article
Trim9 Deletion Alters the Morphogenesis of Developing and Adult-Born Hippocampal Neurons and Impairs Spatial Learning and Memory.
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- Journal of Neuroscience, 2016, v. 36, n. 18, p. 4940, doi. 10.1523/JNEUROSCI.3876-15.2016
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- Article
Chromosome 13 deletion and hypodiploidy on conventional cytogenetics are robust prognostic factors in Korean multiple myeloma patients: web-based multicenter registry study.
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- Annals of Hematology, 2014, v. 93, n. 8, p. 1353, doi. 10.1007/s00277-014-2057-5
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- Article
The Promise and Practice of Genetics on Diabetes Care: The Fog Rises to Reveal a Field of Genetic Complexity in .
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- 2017
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- Publication type:
- journal article
Genetic Anticipation and Autism.
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- Indian Pediatrics, 2014, v. 51, n. 10, p. 841
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- Article
A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans.
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- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 3, p. 1027, doi. 10.1534/g3.117.039651
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- Article
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
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- G3: Genes | Genomes | Genetics, 2015, v. 5, n. 11, p. 2453, doi. 10.1534/g3.115.021345
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- Article
Loss of SRY-box2 ( SOX2) expression and its impact on survival of patients with oesophageal adenocarcinoma.
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- British Journal of Surgery, 2017, v. 104, n. 10, p. 1327, doi. 10.1002/bjs.10553
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- Article
The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit.
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- Genetics, 2017, v. 205, n. 2, p. 787, doi. 10.1534/genetics.116.193821
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- Article
Chromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.
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- 2018
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- Publication type:
- Case Study
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.
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- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 11, p. e144, doi. 10.1111/jdv.13457
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- Article
Triradial and quadriradial chromosomes detected in a case of B-cell prolymphocytic leukaemia.
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- British Journal of Haematology, 2017, v. 179, n. 5, p. 704, doi. 10.1111/bjh.14895
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- Article
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
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- British Journal of Haematology, 2015, v. 168, n. 6, p. 854, doi. 10.1111/bjh.13229
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- Article
Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
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- European Journal of Endocrinology, 2016, v. 174, n. 4, p. K1, doi. 10.1530/EJE-15-1216
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- Article
Identification of a novel PAX6 mutation in a Chinese family with aniridia.
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- 2019
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- Publication type:
- journal article
12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments.
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- 2016
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- Publication type:
- Case Study
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
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- 2016
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- Publication type:
- Case Study
Clinical and molecular characterization of a de novo 19p13.3 microdeletion.
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- 2016
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- Publication type:
- Case Study
de novo interstitial deletions at the 11q23.3-q24.2 region.
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- 2016
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- Publication type:
- Case Study
Germline genetic variants in men with prostate cancer and one or more additional cancers.
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- 2017
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- Publication type:
- journal article
Prioritizing Therapeutics for Lung Cancer: An Integrative Meta-analysis of Cancer Gene Signatures and Chemogenomic Data.
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- PLoS Computational Biology, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pcbi.1004068
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- Article
Japanese amyotrophic lateral sclerosis patient with learning disabilities with a deletion mutation in the C-terminal of the FUS/ TLS gene.
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- Neurology & Clinical Neuroscience, 2015, v. 3, n. 5, p. 192, doi. 10.1111/ncn3.180
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- Article
A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia.
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- Oncology Letters, 2016, v. 11, n. 3, p. 2117, doi. 10.3892/ol.2016.4169
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- Article
Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.
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- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019, v. 20, n. 7/8, p. 568, doi. 10.1080/21678421.2019.1632347
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- Article
Genetic Analysis of Familial Spontaneous Pneumothorax in an Indian Family.
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- 2015
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- Publication type:
- Report
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 307, doi. 10.1038/ejhg.2013.134
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- Article
Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/ cisplatin chemotherapy.
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- Journal of Experimental & Clinical Cancer Research (17569966), 2015, v. 34, n. 1, p. 1, doi. 10.1186/s13046-015-0124-y
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- Article
Transfusion-Dependent Thalassemia in Northern Sarawak: A Molecular Study to Identify Different Genotypes in the Multi-Ethnic Groups and the Importance of Genomic Sequencing in Unstudied Populations.
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- Public Health Genomics, 2015, v. 18, n. 1, p. 60, doi. 10.1159/000368342
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- Article
Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity.
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- Journal of Anatomy, 2016, v. 228, n. 3, p. 464, doi. 10.1111/joa.12425
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- Article
Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome.
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- International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 449, doi. 10.1007/s00414-015-1178-2
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- Article
Chromosome arm 1q gain is an adverse prognostic factor in localized and diffuse leptomeningeal glioneuronal tumors with BRAF gene fusion and 1p deletion.
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- 2019
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- Publication type:
- Case Study
Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
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- Frontiers in Genetics, 2017, v. 8, p. 1, doi. 10.3389/fgene.2017.00047
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- Article
Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186485
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- Article
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071
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- Article
The 15q11.2 BP1-BP2 Microdeletion Syndrome: A Review.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 2, p. 4068, doi. 10.3390/ijms16024068
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- Article
Identification and characterization of a novel 43-bp deletion mutation of the <italic>ATP7B</italic> gene in a Chinese patient with Wilson's disease: a case report.
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- 2018
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- Publication type:
- Case Study
Effects of pathogenic CNVs on physical traits in participants of the UK Biobank.
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- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-5292-7
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- Article
Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.
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- Neuropsychiatric Disease & Treatment, 2016, v. 12, p. 1135, doi. 10.2147/NDT.S102272
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- Article
Chromosome 9p deletion in clear cell renal cell carcinoma predicts recurrence and survival following surgery.
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- British Journal of Cancer, 2014, v. 111, n. 7, p. 1381, doi. 10.1038/bjc.2014.420
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- Article
Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance.
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- Archives of Plastic Surgery, 2014, v. 41, n. 4, p. 344, doi. 10.5999/aps.2014.41.4.344
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- Article
Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-12829-8
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- Article
In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility.
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- Systems Biology in Reproductive Medicine, 2017, v. 63, n. 4, p. 248, doi. 10.1080/19396368.2017.1305466
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- Article
Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
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- Cytogenetic & Genome Research, 2018, v. 154, n. 1, p. 20, doi. 10.1159/000487094
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- Article
17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis.
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- Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 178, doi. 10.1159/000369117
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- Article
Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome.
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- Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 183, doi. 10.1159/000370081
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- Article
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
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- Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 77, doi. 10.3343/alm.2018.38.1.77
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- Article
A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
- Published in:
- 2015
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- Publication type:
- Case Study
Short duplication within the RHCE gene associated with an in cis deleted RHD causing a Rh<sub>null</sub> amorph phenotype in an immunized pregnant woman with anti- Rh29.
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- Transfusion, 2015, v. 55, n. 6pt2, p. 1407, doi. 10.1111/trf.12937
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- Article
Real-time quantitative polymerase chain reaction assay for detecting 1p and 19q codeletion in glioma.
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- Biomedical & Biotechnology Research Journal, 2023, v. 7, n. 4, p. 563, doi. 10.4103/bbrj.bbrj_196_23
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- Article