Genes at chromosome haploinsufficiency. Medical search. Frequent questions

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Anatomy56

Chromosomes, Human, Pair 11 Chromosomes Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 1 X Chromosome Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 22 Chromosomes, Human Sex Chromosomes Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 21 Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 13 Chromosomes, Bacterial Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 18 Chromosomes, Plant Chromosomes, Fungal Chromosomes, Human, 6-12 and X Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 20 Chromosomes, Human, X Chromosomes, Mammalian Chromosomes, Human, Y Chromosomes, Artificial, Bacterial Chromosomes, Human, 1-3 Chromosomes, Human, 16-18 Telomere Chromosomes, Human, 13-15 Chromosomes, Human, 21-22 and Y Ring Chromosomes Chromosomes, Human, 4-5 Centromere Hybrid Cells Chromosomes, Insect Chromosome Structures Chromosomes, Human, 19-20 Cell Line Chromosomes, Artificial, Human Kinetochores Embryo, Mammalian Spindle Apparatus Cell Nucleus Cells, Cultured Chromatids Tumor Cells, Cultured

Organisms7

Mice, Inbred C57BL Mice, Knockout Mice, Mutant Strains Mice, Transgenic Saccharomyces cerevisiae Drosophila melanogaster Escherichia coli

Diseases46

Chromosome Deletion Chromosome Aberrations Chromosome Breakage Chromosome Disorders Translocation, Genetic Abnormalities, Multiple Syndrome Genetic Predisposition to Disease Chromosome Inversion Ring Chromosomes Intellectual Disability Williams Syndrome Chromosome Duplication Aortic Stenosis, Supravalvular Chromosome Fragility Monosomy Smith-Magenis Syndrome Aneuploidy Craniofacial Abnormalities Chromosomal Instability DiGeorge Syndrome Facies Microcephaly Ehlers-Danlos Syndrome Turner Syndrome Beckwith-Wiedemann Syndrome Mandibulofacial Dysostosis Alagille Syndrome Trisomy Acrocephalosyndactylia Uniparental Disomy Disease Models, Animal Nondisjunction, Genetic Hand Deformities, Congenital Cell Transformation, Neoplastic Anemia, Macrocytic Wilms Tumor Limb Deformities, Congenital Genomic Instability 22q11 Deletion Syndrome Cleidocranial Dysplasia Neurofibromatosis 1 Cri-du-Chat Syndrome Anemia, Diamond-Blackfan Nervous System Malformations Eye Abnormalities

Chemicals and Drugs33

Myeloid-Lymphoid Leukemia Protein Genetic Markers Transcription Factors DNA-Binding Proteins Nuclear Proteins DNA, Neoplasm DNA RNA, Messenger Homeodomain Proteins Acid Anhydride Hydrolases DNA Primers Cell Cycle Proteins Tumor Suppressor Proteins DNA, Satellite Codon, Nonsense Repressor Proteins Proteins DNA, Complementary DNA Probes Telomerase Neoplasm Proteins Chromosomal Proteins, Non-Histone Carrier Proteins Protein-Serine-Threonine Kinases Nerve Tissue Proteins Saccharomyces cerevisiae Proteins Neurofibromin 1 Paired Box Transcription Factors Twist Transcription Factor Tumor Suppressor Protein p53 Eye Proteins DNA, Bacterial Membrane Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Chromosome Mapping Chromosome Banding In Situ Hybridization, Fluorescence Pedigree Karyotyping Chromosome Painting DNA Mutational Analysis Polymerase Chain Reaction Cloning, Molecular Crosses, Genetic Models, Genetic Sequence Analysis, DNA Comparative Genomic Hybridization Nucleic Acid Hybridization Blotting, Southern Reverse Transcriptase Polymerase Chain Reaction Genome-Wide Association Study Oligonucleotide Array Sequence Analysis Facies Gene Expression Profiling In Situ Hybridization Sequence Alignment Disease Models, Animal Physical Chromosome Mapping Cytogenetic Analysis Chromosome Walking Immunohistochemistry Genetic Association Studies Case-Control Studies Gene Targeting

Psychiatry and Psychology1

Intellectual Disability

Phenomena and Processes147

Haploinsufficiency Chromosomes, Human, Pair 11 Chromosomes Chromosomes, Human, Pair 3 Loss of Heterozygosity Genes, Tumor Suppressor Genetic Markers Chromosomes, Human, Pair 1 Chromosome Deletion Chromosome Aberrations X Chromosome Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 22 Chromosomes, Human Sex Chromosomes Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 21 Heterozygote Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 13 Chromosomes, Bacterial Chromosome Segregation Chromosomes, Human, Pair 19 Genetic Linkage Mutation Chromosomes, Human, Pair 15 Chromosome Breakage Phenotype Haploidy Base Sequence Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 18 Chromosomes, Plant Chromosomes, Fungal Alleles Chromosomes, Human, 6-12 and X Gene Deletion Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 20 Chromosomes, Human, X Translocation, Genetic Microsatellite Repeats Chromosome Pairing Chromosomes, Mammalian Haplotypes Gene Dosage Chromosomes, Human, Y Chromosomes, Artificial, Bacterial Lod Score Chromosomes, Human, 1-3 Genotype Chromosomes, Human, 16-18 Telomere Chromosomes, Human, 13-15 Genetic Predisposition to Disease Chromosomes, Human, 21-22 and Y Genes, Dominant Chromosome Inversion Amino Acid Sequence Ring Chromosomes Polymorphism, Single Nucleotide Homozygote Chromosome Positioning Chromosomes, Human, 4-5 Recombination, Genetic Genetic Loci X Chromosome Inactivation Chromosome Duplication Nucleic Acid Hybridization Centromere Sequence Deletion Exons Meiosis Chromosomes, Insect Chromosome Fragility Mitosis Chromosome Structures Chromosomes, Human, 19-20 Monosomy Aneuploidy Metaphase Multigene Family Transcription, Genetic Genome, Human Gene Expression Regulation Polymorphism, Single-Stranded Conformational Frameshift Mutation Sequence Homology, Amino Acid Chromosomal Instability Mutation, Missense Quantitative Trait Loci Penetrance Genetic Variation DNA, Satellite Polymorphism, Genetic Genes Codon, Nonsense Gene Rearrangement Gene Amplification Sequence Tagged Sites Genomic Imprinting Gene Expression Repetitive Sequences, Nucleic Acid Gene Expression Regulation, Developmental Promoter Regions, Genetic Genes, Neurofibromatosis 1 Linkage Disequilibrium Hemizygote Chromosome Fragile Sites Genes, Recessive DNA Methylation Introns Trisomy DNA Copy Number Variations Mosaicism Uniparental Disomy Nondisjunction, Genetic Chromosomes, Artificial, Human Kinetochores Sequence Homology, Nucleic Acid Point Mutation DNA Replication Polymorphism, Restriction Fragment Length Evolution, Molecular Allelic Imbalance Gene Expression Regulation, Neoplastic Genetic Heterogeneity Gene Silencing Gene Duplication Plasmids Genes, Lethal Genomic Instability Diploidy Proto-Oncogenes DNA Damage Signal Transduction Chromatids Genes, Bacterial Consanguinity

Disciplines and Occupations1

Immunohistochemistry

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Health Care4

Genome-Wide Association Study Family Health Case-Control Studies Age of Onset

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science Health Care

Haploinsufficiency Chromosomes, Human, Pair 11 Chromosome Mapping Chromosomes Chromosomes, Human, Pair 3 Myeloid-Lymphoid Leukemia Protein Loss of Heterozygosity Genes, Tumor Suppressor Genetic Markers Chromosomes, Human, Pair 1 Molecular Sequence Data Chromosome Deletion Chromosome Banding Chromosome Aberrations X Chromosome Transcription Factors Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 22 Chromosomes, Human Sex Chromosomes Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 21 Heterozygote Chromosomes, Human, Pair 8 In Situ Hybridization, Fluorescence Chromosomes, Human, Pair 13 Chromosomes, Bacterial Chromosome Segregation Chromosomes, Human, Pair 19 Genetic Linkage Mutation Chromosomes, Human, Pair 15 Chromosome Breakage Phenotype Haploidy Pedigree Base Sequence Karyotyping Chromosomes, Human, Pair 14 Chromosome Disorders Chromosomes, Human, Pair 18 Chromosomes, Plant Chromosomes, Fungal Alleles Chromosomes, Human, 6-12 and X Gene Deletion Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 20 Chromosomes, Human, X Translocation, Genetic Microsatellite Repeats Chromosome Pairing Chromosomes, Mammalian Abnormalities, Multiple Haplotypes Gene Dosage Chromosomes, Human, Y Chromosomes, Artificial, Bacterial Syndrome Lod Score Chromosomes, Human, 1-3 Chromosome Painting Genotype Chromosomes, Human, 16-18 Telomere Chromosomes, Human, 13-15 Genetic Predisposition to Disease Chromosomes, Human, 21-22 and Y DNA Mutational Analysis Genes, Dominant Chromosome Inversion Amino Acid Sequence DNA-Binding Proteins Ring Chromosomes Polymerase Chain Reaction Intellectual Disability Polymorphism, Single Nucleotide Homozygote Chromosome Positioning Cloning, Molecular Chromosomes, Human, 4-5 Recombination, Genetic Williams Syndrome Nuclear Proteins Genetic Loci Crosses, Genetic Models, Genetic X Chromosome Inactivation Sequence Analysis, DNA Chromosome Duplication Comparative Genomic Hybridization DNA, Neoplasm

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