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The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
PLoS Genetics, ISSN 1553-7390, 06/2012, Volume 8, Issue 6, pp. e1002749 - e1002749
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To... 
EPITHELIAL-MESENCHYMAL TRANSITION | FAMILIAL OCCURRENCE | SETLEIS SYNDROME | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MORPHOLOGY STANDARD TERMINOLOGY | SAETHRE-CHOTZEN SYNDROME | FRAMESHIFT MUTATION | ATROPHIC SKIN | TRANSCRIPTION FACTOR | AUTOSOMAL-DOMINANT INHERITANCE | Abnormalities, Multiple - pathology | Humans | Molecular Sequence Data | Hirsutism - pathology | Mutation, Missense - genetics | Chromatin Immunoprecipitation | Base Sequence | Hypertrichosis - pathology | Skin Abnormalities - pathology | Abnormalities, Multiple - genetics | Eyelid Diseases - genetics | Twist-Related Protein 1 - chemistry | Amino Acid Sequence | Eyelid Diseases - pathology | Repressor Proteins - chemistry | Hirsutism - genetics | Macrostomia - pathology | Hypertelorism - genetics | Models, Molecular | Repressor Proteins - genetics | Zebrafish | Hypertelorism - pathology | Macrostomia - genetics | Eye Abnormalities - genetics | Microscopy, Electron | Sequence Analysis, DNA | Exome - genetics | Phenotype | Animals | Hypertrichosis - genetics | Eye Abnormalities - pathology | Twist-Related Protein 1 - genetics | Protein Conformation | Skin Abnormalities - genetics | HeLa Cells | Physiological aspects | Genetic disorders | Gene mutations | Identification and classification | Genotype & phenotype | Correlation analysis | Amino acids | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 2/2017, Volume 58, Issue 1, pp. 93 - 98
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a... 
Life Sciences | Human Genetics | 22q11.2 deletion syndrome | NF1 microduplication syndrome | Array comparative genomic hybridization | Microbial Genetics and Genomics | 17q21.31 microdeletion syndrome | chromosome deletion | NAALADL2 | Plant Genetics & Genomics | Animal Genetics and Genomics | chromosome 6p25.3p25.2 deletion | DIGEORGE-SYNDROME | MICROARRAY | ANOMALIES | HYBRIDIZATION | REGION | 10P | CHROMOSOME | MICRODELETIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | VELOCARDIOFACIAL-SYNDROME | GENETICS & HEREDITY | CONGENITAL HEART-DEFECTS | Hearing Loss - diagnosis | Humans | Male | Chromosome Duplication - genetics | Neurofibromatoses - genetics | Chromosomes, Human, Pair 17 - genetics | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Karyotyping | Facies | Chromosome Disorders - diagnosis | Female | Chromosomes, Human, Pair 1 - genetics | Hypertelorism - diagnosis | Abnormalities, Multiple - genetics | DiGeorge Syndrome - genetics | Chromosome Deletion | Eye Abnormalities - diagnosis | Neurofibromatoses - diagnosis | Hypertelorism - genetics | In Situ Hybridization, Fluorescence | Eye Abnormalities - genetics | Chromosomes, Human, Pair 6 - genetics | Hearing Loss - genetics | DiGeorge Syndrome - diagnosis | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Chromosome Disorders - genetics | Gene dosage | High resolution | Test procedures | Disorders | Chromosome 6 | Chromosome deletion | Gene deletion | Dosage | Patients | Haploinsufficiency | Clonal deletion | Deletion | Chromosome 22 | Diagnostic systems | Aberration | Chromosomes | Tbx1 protein | Human Genetics • Original Paper
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2013, Volume 9, Issue 10, pp. e1003857 - e1003857
Roberts syndrome (RBS) is a human disease characterized by defects in limb and craniofacial development and growth and mental retardation. RBS is caused by... 
SISTER-CHROMATID COHESION | MAMMALIAN TARGET | SKELETAL-MUSCLE | ACTIVATED PROTEIN-KINASE | TRANSFER-RNA SYNTHETASE | GENETICS & HEREDITY | DIAMOND-BLACKFAN ANEMIA | C-MYC | INITIATION-FACTOR 4E | TRANSLATION INITIATION | CELL-GROWTH | TOR Serine-Threonine Kinases - metabolism | Humans | Multiprotein Complexes - genetics | Zebrafish - embryology | Acetyltransferases - genetics | RNA, Ribosomal - genetics | Tumor Suppressor Protein p53 - genetics | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - metabolism | TOR Serine-Threonine Kinases - genetics | Ectromelia - genetics | Cell Cycle Proteins - genetics | Craniofacial Abnormalities - metabolism | Leucine - genetics | Craniofacial Abnormalities - genetics | Chromosome Segregation | Hypertelorism - metabolism | Chromosomal Proteins, Non-Histone - metabolism | Signal Transduction | Cell Cycle Proteins - metabolism | Hypertelorism - genetics | Tumor Suppressor Protein p53 - metabolism | Embryonic Development | Ectromelia - metabolism | Chromosomal Proteins, Non-Histone - genetics | Animals | Physiological aspects | Rapamycin | Genetic aspects | Genetic disorders | Leucine | Health aspects | Index Medicus | Proteins | Yeast | Cyclin-dependent kinases | Cell division | Biosynthesis | Mutation | Kinases | Gene expression | Chromosomes | Evacuations & rescues | Defects
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 448 - 455
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 4, pp. 609 - 622
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, pp. e107428 - e107428
MID1 is a microtubule-associated protein that belongs to the TRIM family. MID1 functions as an ubiquitin E3 ligase, and recently was shown to catalyze the... 
BINDING DOMAINS | SERINE/THREONINE PHOSPHATASES | ZINC FINGERS | SYNDROME GENE-PRODUCT | MICROTUBULES | PHOSPHORYLATION | REGULATORY SUBUNIT ALPHA-4 | MULTIDISCIPLINARY SCIENCES | GBBB SYNDROME | LIGASE MID1 | OPITZ-G/BBB SYNDROME | Transcription Factors - chemistry | Protein Phosphatase 2 - chemistry | Humans | Molecular Sequence Data | Cleft Palate - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Recombinant Fusion Proteins - metabolism | Ubiquitination | Microtubule Proteins - chemistry | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Fibroblasts - metabolism | Protein Structure, Tertiary | Amino Acid Sequence | Hypertelorism - metabolism | Hypospadias - metabolism | Signal Transduction | Gene Expression Regulation | Hypertelorism - genetics | Protein Phosphatase 2 - genetics | Ubiquitin-Protein Ligases - metabolism | Esophagus - metabolism | Microtubule Proteins - metabolism | Models, Molecular | Hypospadias - genetics | Nuclear Proteins - metabolism | Genetic Diseases, X-Linked - metabolism | Hypertelorism - pathology | Recombinant Fusion Proteins - chemistry | Transcription Factors - genetics | Esophagus - abnormalities | Fibroblasts - pathology | Nuclear Proteins - chemistry | Ubiquitin-Protein Ligases - chemistry | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Esophagus - pathology | Sequence Alignment | Intracellular Signaling Peptides and Proteins - chemistry | Cleft Palate - pathology | Protein Phosphatase 2 - metabolism | Genetic Diseases, X-Linked - pathology | Recombinant Fusion Proteins - genetics | Cleft Palate - metabolism | Ubiquitin-Protein Ligases - genetics | Hypospadias - pathology | Ubiquitin | Genetic aspects | Phosphatases | Ligases | Phosphoprotein phosphatase | Birth defects | Phosphatase | Kinases | Zinc | Proteins | Fibroblasts | Protein phosphatase | Mutation | Catalysis | Ubiquitin-protein ligase | Apoptosis | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2018, Volume 103, Issue 6, pp. 948 - 967
Journal Article