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Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2017, Volume 102, Issue 8, pp. 3029 - 3039
Context: Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both... 
ENDOCRINOLOGY & METABOLISM | FAT | LOCI | MUTATIONS | REARRANGEMENTS | ASSOCIATION | DELETIONS | TYPE-2 | CONTRIBUTES | INSIGHTS | Hydrolases - genetics | Humans | DNA Repair Enzymes - genetics | Transcriptome | Child, Preschool | Male | Chromosome Duplication - genetics | RNA, Messenger - metabolism | Autoantigens - genetics | Case-Control Studies | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 22 - genetics | Subcutaneous Fat - metabolism | Cell Cycle Proteins - genetics | Adult | Female | Chromosomes, Human, Pair 1 - genetics | Nuclear Proteins - genetics | Child | Microfilament Proteins - genetics | Abnormalities, Multiple - genetics | DiGeorge Syndrome - genetics | Chromosomes, Human, Pair 16 - genetics | Siblings | Autistic Disorder - genetics | Chromosome Deletion | Megalencephaly - genetics | Extracellular Matrix Proteins - genetics | Pediatric Obesity - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Proteins - genetics | Comparative Genomic Hybridization | Adolescent | Ataxia Telangiectasia Mutated Proteins - genetics | Kruppel-Like Transcription Factors - genetics | Acid Phosphatase - genetics | Chromosome Disorders - genetics | Adipose tissues | Obesity | Adipose tissue | Prader-Willi syndrome | Copy number | Genes | mRNA | Hybridization | Gene expression | Body mass index | DNA microarrays | Pathways | Clonal deletion | Ribonucleic acids | Body mass | Body size | Deletion | Children | Age | Index Medicus | Abridged Index Medicus | deletions | insights | bardet-biedl-syndrome | association | Klinisk medicin | contributes | population | type-2 | Clinical Medicine | mutations | rearrangements | Endocrinology & Metabolism | loci
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 934 - 941
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104163 - e104163
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a... 
CHROMOSOME | POPULATION | MENTAL-RETARDATION SYNDROME | MULTIDISCIPLINARY SCIENCES | BUPHTHALMOS | LTBP2 | DIFFERENTIATION | HYPOGONADISM | PRIMARY CONGENITAL GLAUCOMA | GENOME-WIDE ASSOCIATION | CUL4B GENE | Corneal Diseases - diagnostic imaging | Megalencephaly - diagnostic imaging | Humans | Middle Aged | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Ultrasonography | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Cerebral Palsy - diagnostic imaging | Megalencephaly - genetics | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Eye Diseases, Hereditary - diagnostic imaging | Muscle Hypotonia - genetics | Genetic Association Studies | Intellectual Disability - diagnostic imaging | Mutation - genetics | Glaucoma - congenital | Nerve Tissue Proteins - genetics | Epilepsy - complications | Eye Diseases, Hereditary - genetics | Exome - genetics | Phenotype | Pedigree | Adolescent | Family | Glaucoma - genetics | Cerebral Palsy - genetics | Corneal Pachymetry | Glaucoma | Phenotypes | Cornea | Intellectual disabilities | Health risks | Genomes | Single-nucleotide polymorphism | Epidemiology | Loci | Eye | Proteins | Missense mutation | Etiology | Diagnostic software | Genetics | Diagnostic systems | Mutation | Bioinformatics | Chromosomes | Polymorphism | Index Medicus
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 41 - 41
Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous... 
1q21.1 microdeletion syndrome | Bartsocas-Papas syndrome | CHUK | Cocoon syndrome | AEC | DEFECTS | RIPK4 | DISORDERS | GENETICS & HEREDITY | MALFORMATION | INTEGRATIVE GENOMICS VIEWER | COHORT | MUTATIONS | SPECTRUM | ASSOCIATION | Cleft Palate - diagnosis | Cleft Lip - diagnosis | Genetic Testing | Immunoglobulin G - blood | Humans | Eyelids - abnormalities | Child, Preschool | Male | Cleft Palate - genetics | Mutation, Missense | Genetic Variation | Microarray Analysis | Tumor Suppressor Proteins - genetics | Chromosomes, Human, Pair 1 - genetics | Immunologic Deficiency Syndromes - diagnosis | Abnormalities, Multiple - genetics | Chromosome Deletion | Megalencephaly - genetics | Amino Acid Sequence | Eye Abnormalities - diagnosis | Gene Frequency | Ectodermal Dysplasia - diagnosis | Protein-Serine-Threonine Kinases - genetics | Interferon Regulatory Factors - genetics | I-kappa B Kinase - genetics | Transcription Factors - genetics | Eye Abnormalities - genetics | Cleft Lip - genetics | Phenotype | Pedigree | Immunologic Deficiency Syndromes - genetics | Heterozygote | Ectodermal Dysplasia - genetics | Genetic disorders | Genetic variation | Immunological deficiency syndromes | Genetic aspects | Research | Ectodermal dysplasia | Infection | Dysplasia | DNA microarrays | Immunodeficiency | Development and progression | Skin | Health aspects | Index Medicus | Bartsocas–Papas syndrome
Journal Article
Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1226 - 1237
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected... 
Marshall‐Smith syndrome | phenotype | NFIX | Sotos syndrome | Malan syndrome | Weaver syndrome | phenotype‐genotype | phenotype-genotype | Marshall-Smith syndrome | SOTOS-LIKE OVERGROWTH | CACNA1A | DNA-BINDING/DIMERIZATION DOMAIN | 19P13.13 | DELETION | INTELLECTUAL DISABILITY | GENETICS & HEREDITY | MESSENGER-RNA DECAY | NFIX MUTATIONS | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Bone Diseases, Developmental - genetics | Craniofacial Abnormalities - physiopathology | NFI Transcription Factors - genetics | Bone Diseases, Developmental - physiopathology | Mutation, Missense - genetics | Intellectual Disability - genetics | Young Adult | Septo-Optic Dysplasia - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Adult | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Chromosome Deletion | Megalencephaly - genetics | Developmental Disabilities - physiopathology | Megalencephaly - physiopathology | Sotos Syndrome - genetics | Septo-Optic Dysplasia - physiopathology | Exons - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Gene mutations | Epilepsy | Codon | Body height | Phenotypes | Stop codon | Anxiety | Children | Genotypes
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 247 - 259
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth... 
EYE | WATER DIFFUSION | BONE MORPHOGENETIC PROTEIN | ACQUISITION | GENETICS & HEREDITY | BIOMETRY | UPDATE | ISCEV STANDARD | CHORDIN | LINKAGE | BRAIN | Anterior Eye Segment - embryology | Cerebral Palsy - metabolism | Humans | Middle Aged | Eye Abnormalities - embryology | Genetic Diseases, X-Linked - complications | Molecular Sequence Data | Corneal Diseases - metabolism | Male | Retina - embryology | Anterior Eye Segment - abnormalities | Intellectual Disability - genetics | Intellectual Disability - metabolism | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Base Sequence | Nerve Tissue Proteins - biosynthesis | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Megalencephaly - genetics | DNA Copy Number Variations - genetics | Megalencephaly - metabolism | Genetic Diseases, X-Linked - metabolism | Eye Abnormalities - genetics | Nerve Tissue Proteins - genetics | Genetic Diseases, X-Linked - embryology | Phenotype | Pedigree | Retina - abnormalities | Brain - pathology | Cornea - abnormalities | Mutation | Quantitative Trait Loci | Cerebral Palsy - genetics | Eye Abnormalities - complications | Eye Proteins - biosynthesis | Brain | Gene mutations | Genetic variation | Physiological aspects | Causes of | Corneal diseases | Retina | Genetic aspects | Research | Ophthalmology | Proteins | Cornea | Genetic disorders | Morphology | Cognitive ability | Genetic research | Gene expression | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e86940 - e86940
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2011, Volume 88, Issue 4, pp. 422 - 432
Journal Article
Brain, ISSN 0006-8950, 06/2015, Volume 138, Issue 6, pp. 1613 - 1628
Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common... 
Childhood epilepsy | Molecular genetics | Malformations of cortical development | Brain development | molecular genetics | brain development | MAMMALIAN TARGET | LHERMITTE-DUCLOS-DISEASE | RILEY-RUVALCABA-SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | DOMINANT SKIN DISORDERS | PTEN GENE | EPIDERMAL NEVI | malformations of cortical development | childhood epilepsy | COWDEN SYNDROME | INTRACTABLE EPILEPSY | ACTIVATING MUTATIONS | HAMARTOMA TUMOR SYNDROME | Neuroimaging | Megalencephaly - pathology | Ribosomal Protein S6 Kinases - metabolism | Humans | Child, Preschool | Hemimegalencephaly - metabolism | Infant | Male | Brain - abnormalities | Proto-Oncogene Proteins c-akt - genetics | Brain - metabolism | Female | Malformations of Cortical Development - pathology | Proto-Oncogene Proteins c-akt - metabolism | Child | Infant, Newborn | Megalencephaly - genetics | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease - genetics | Malformations of Cortical Development - metabolism | Hemimegalencephaly - pathology | Megalencephaly - metabolism | Signal Transduction - genetics | Malformations of Cortical Development - genetics | Phosphatidylinositol 3-Kinases - genetics | Magnetic Resonance Imaging | Class I Phosphatidylinositol 3-Kinases | Adolescent | Mutation | Hemimegalencephaly - genetics | Index Medicus | Abridged Index Medicus | Original
Journal Article