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Journal Article
Lancet, The, ISSN 0140-6736, 2015, Volume 386, Issue 9990, pp. 266 - 273
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2015, Volume 135, Issue 3, pp. 721 - 728.e6
Eczema is associated with high rates of sleep disturbance and quality-of-life impairment. These factors might have a negative impact on psychosocial... 
alcohol | body mass index | prediabetes | sleepiness | physical activity | insomnia | fatigue | high cholesterol | Atopic dermatitis | smoking | eczema | hypertension | diabetes | insulin resistance | obesity | BMI | ALCOHOL-CONSUMPTION | PREVALENCE | IMMUNOLOGY | DIABETES-MELLITUS | TOBACCO SMOKING | ALLERGY | ALLERGIC DISEASES | CHILDHOOD ATOPIC-DERMATITIS | HAND ECZEMA | CIGARETTE-SMOKING | ASSOCIATION | PSORIASIS | United States - epidemiology | Eczema - complications | Humans | Middle Aged | Male | Sleep Initiation and Maintenance Disorders - epidemiology | Sleep Initiation and Maintenance Disorders - complications | Eczema - epidemiology | Smoking - physiopathology | Aged, 80 and over | Adult | Female | Hypertension - epidemiology | Eczema - physiopathology | Body Mass Index | Alcohol Drinking - physiopathology | Logistic Models | Obesity - physiopathology | Hypertension - physiopathology | Health Surveys | Alcohol Drinking - epidemiology | Diabetes Mellitus - physiopathology | Smoking - epidemiology | Diabetes Mellitus - epidemiology | Obesity - epidemiology | Adolescent | Hypertension - complications | Sleep Initiation and Maintenance Disorders - physiopathology | Aged | Sleep disorders | Medical research | Sleep | Eczema | Medicine, Experimental | Cardiovascular diseases | Medicine, Preventive | Risk factors | Preventive health services | Secondary schools | Variables | Body mass index | Education | Population | Behavior | Interviews | Age | Hypertension | Obesity | Households | Data processing | Fatigue | Regression analysis | Cholesterol | Educational attainment | Asthma | Hay fever | Studies | Ethnicity | Insomnia | Adults | Diabetes | Smoking | Logistics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1694 - 1697
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key... 
atypical phenotype | Pierre–Robin sequence | TGDS | Catel–Manzke syndrome | fetal pathology | prenatal manifestation | SEQUENCE | GENETICS & HEREDITY | PHENOTYPE | PATIENT | Catel-Manzke syndrome | DESBUQUOIS DYSPLASIA | HYPERPHALANGISM | Pierre-Robin sequence | Tooth Abnormalities - diagnosis | Brachydactyly - physiopathology | Deafness - genetics | Tooth Abnormalities - physiopathology | Mouth Abnormalities - diagnosis | Pierre Robin Syndrome - physiopathology | Humans | Fingers - physiopathology | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Female | Hydro-Lyases - genetics | Fingers - abnormalities | Abnormalities, Multiple - genetics | Tooth Abnormalities - genetics | Prenatal Diagnosis | Deafness - physiopathology | Fetus - physiopathology | Mouth Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Deafness - diagnosis | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | Pregnancy | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Brachydactyly - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Mouth Abnormalities - physiopathology | Hypoplasia | Radiography | Edema | Prenatal diagnosis | Fetuses | Fingers & toes | Prenatal development | Gestation | Brachydactyly | Clubfoot
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1754 - 1762
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis.... 
BAF complex | exome analysis | SMARCA2 | ARID1B | facial dysmorphology analysis | COFFIN-SIRIS SYNDROME | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | CLINICAL EXOME | Face - abnormalities | Humans | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Foot Deformities, Congenital - genetics | Male | Craniofacial Abnormalities - physiopathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Muscular Atrophy - physiopathology | Facies | Foot Deformities, Congenital - physiopathology | Muscular Atrophy - diagnosis | Female | Nuclear Proteins - genetics | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Micrognathism - genetics | Foot Deformities, Congenital - diagnosis | Muscular Atrophy - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Exome - genetics | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Mutation | Pathology, Molecular | Genetic research | Genes | Genetic aspects
Journal Article