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Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2003, Volume 12, Issue suppl 2, pp. R195 - R200
Cumulative evidence has shown that a delicate balance between serine proteases and their inhibitors is crucial for normal functioning of several biological... 
Life Sciences | Humans | Serpins | Serine Proteinase Inhibitors | Genetic Diseases, Inborn | Neuropeptides | Genetics | Mutation | Serine Endopeptidases | Central Nervous System Diseases | Human genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 782 - 788
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2015, Volume 167, Issue 1, pp. 111 - 122
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 669 - 676
Pitt‐Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS... 
mental retardation | TCF4 | Pitt‐Hopkins | E‐protein | bHLH | E-protein | Pitt-Hopkins | MENTAL-RETARDATION | HASH-1 | HAPLOINSUFFICIENCY | E2-2 | GENETICS & HEREDITY | DIFFERENTIATION | PROTEINS | TRANSCRIPTION FACTOR | BINDING | DOSAGE | REVEALS | Abnormalities, Multiple - pathology | Immunohistochemistry | Luciferases - metabolism | Transcription Factors - chemistry | Humans | Child, Preschool | Infant | Male | Electroencephalography | Gene Expression Profiling | Luciferases - genetics | Young Adult | In Situ Hybridization | Gene Expression Regulation, Developmental | Adult | Female | Child | Dimerization | Abnormalities, Multiple - genetics | DNA-Binding Proteins - physiology | Transcription Factors - physiology | Transcription Factor 4 | Intellectual Disability - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | DNA-Binding Proteins - chemistry | Abnormalities, Multiple - physiopathology | Syndrome | Magnetic Resonance Imaging | Hyperventilation - pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Adolescent | HeLa Cells | Mutation | Life Sciences | Luciferases | Genetics | Intellectual Disability | DNA-Binding Proteins | Abnormalities, Multiple | Transcription Factors | Hyperventilation | Human genetics
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 11/2013, Volume 210, Issue 12, pp. 2503 - 2513
Journal Article
American Journal of Psychiatry, ISSN 0002-953X, 2006, Volume 163, Issue 9, pp. 1622 - 1629
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2010, Volume 18, Issue 2, pp. 227 - 232
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2013, Volume 21, Issue 2, pp. 195 - 199
One of the key signals regulating peripheral myelin formation by Schwann cell is the activation of the transcription factor NF-kappa B. Yet, whether NF-kappa B... 
myelin formation | genotype/phenotype correlations | NF-kB | central nervous system | ACTIVATION | BETA-BINDING PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | RECESSIVE MENTAL-RETARDATION | INTELLECTUAL DISABILITY | NF-kappa B | GENE | FAMILIES | GENETICS & HEREDITY | CENTRAL-NERVOUS-SYSTEM | MECP2 DUPLICATIONS | EXPRESSION | Oligodendroglia - metabolism | Brain - diagnostic imaging | Central Nervous System - metabolism | Humans | Male | NF-kappa B - metabolism | Brain - abnormalities | Chromosome Duplication - genetics | Craniofacial Abnormalities - physiopathology | Schwann Cells - cytology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Myelin Sheath - metabolism | Brain - metabolism | Sex Chromosome Disorders - physiopathology | I-kappa B Kinase - metabolism | Sex Chromosome Disorders - metabolism | Facies | Genetic Diseases, X-Linked - genetics | Oligodendroglia - cytology | Sex Chromosome Disorders - genetics | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Genetic Diseases, X-Linked - physiopathology | Genetic Association Studies | Myelin Sheath - pathology | Signal Transduction | Axons - metabolism | Magnetic Resonance Angiography | Schwann Cells - metabolism | Genetic Diseases, X-Linked - metabolism | I-kappa B Kinase - genetics | Intellectual Disability - physiopathology | Radiography | NF-kappa B - genetics | Myelin Sheath - genetics | Central Nervous System - physiopathology | Astrocytes | NF-κB | phenotype correlations | genotype
Journal Article
Journal Article