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Nature Genetics, ISSN 1061-4036, 07/2010, Volume 42, Issue 7, pp. 614 - 618
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 05/2017, Volume 18, Issue 1, pp. 56 - 7
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 1, pp. 54 - 60
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 2014, Volume 7, Issue 1, pp. 78 - 78
Background: Terminal deletion of 6q27 produces a rare syndrome associated with unexplained mental retardation, hypotonia, epilepsy, and multiple malformations.... 
Trisomy 18p | Hypotonia | Mental retardation | 6q27 deletion | Rearrangement | MENTAL-RETARDATION | GENE | GENETICS & HEREDITY | 6q27 Deletion | Cytogenetics | Genetic aspects | Single nucleotide polymorphisms | Chromosomes | Epilepsy | Risk assessment
Journal Article
Molecular Syndromology, ISSN 1661-8769, 07/2019, Volume 10, Issue 4, pp. 202 - 208
Terminal microdeletions of the long arm of chromosome 6 are associated with a phenotype that includes multiple brain malformations, intellectual disability,... 
Short Report | Brain malformation | Intellectual disability | 6q27 microdeletion | TERMINAL DELETION SYNDROME | Chromosome microarray analysis | GENETICS & HEREDITY
Journal Article
Oncogene, ISSN 0950-9232, 02/2007, Volume 26, Issue 5, pp. 683 - 700
We had previously defined by allele loss studies a minimal region at 6q27 (between D6S264 and D6S297) to contain a putative tumour suppressor gene. The p90... 
Tumour suppressor gene | Chromosome 6q27 | RPS6KA2 | Ovarian cancer | chromosome 6q27 | ovarian cancer | BIOCHEMISTRY & MOLECULAR BIOLOGY | tumour suppressor gene | CELL-CYCLE ARREST | NUCLEAR TRANSLOCATION | CELL BIOLOGY | MONOALLELIC EXPRESSION | ONCOLOGY | GENETICS & HEREDITY | ALLELE LOSS | RIBOSOMAL S6 KINASE | HOMOZYGOUS DELETIONS | SIGNAL-REGULATED KINASE | COFFIN-LOWRY SYNDROME | MAP | Cell Proliferation | Immunoprecipitation | Adenocarcinoma, Mucinous - pathology | DNA, Neoplasm - metabolism | Humans | Cystadenocarcinoma, Serous - metabolism | Gene Expression Regulation, Neoplastic | Ovarian Neoplasms - pathology | Molecular Sequence Data | Neoplasms, Glandular and Epithelial - metabolism | Cystadenocarcinoma, Serous - genetics | Cystadenocarcinoma, Serous - pathology | Loss of Heterozygosity | Carcinoma, Endometrioid - metabolism | Ovarian Neoplasms - genetics | Polymorphism, Single-Stranded Conformational | Neoplasms, Glandular and Epithelial - genetics | DNA Methylation | Ribosomal Protein S6 Kinases, 90-kDa - metabolism | MAP Kinase Signaling System - genetics | Transfection | RNA Interference | Genes, Tumor Suppressor - physiology | Polymerase Chain Reaction | Female | Ovarian Neoplasms - metabolism | Tumor Cells, Cultured | Chromosome Deletion | Mitogen-Activated Protein Kinases | Amino Acid Sequence | Neoplasms, Glandular and Epithelial - pathology | Carcinoma, Endometrioid - genetics | Adenocarcinoma, Clear Cell - metabolism | Chromosome Mapping | Chromosomes, Human, Pair 6 - genetics | Sequence Homology, Amino Acid | Cell Cycle | Ribosomal Protein S6 Kinases, 90-kDa - genetics | Adenocarcinoma, Mucinous - metabolism | Adenocarcinoma, Clear Cell - pathology | Adenocarcinoma, Mucinous - genetics | DNA, Neoplasm - genetics | Adenocarcinoma, Clear Cell - genetics | Carcinoma, Endometrioid - pathology | Apoptosis | Development and progression | Tumor suppressor genes | Genetic aspects | Research | Properties | Health aspects | Identification and classification | Carcinogenesis | Signal transduction | Genes | Oncology | Gene expression | Chromosomes | Tumors
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 10/2017, Volume 34, Issue 5, p. 718
To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism. The karotypes of the fetus and its... 
Chromosome Deletion | Pregnancy | Genetic Testing | Comparative Genomic Hybridization | Humans | Prenatal Diagnosis | Adult | Female | Chromosomes, Human, Pair 6
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