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Joint Bone Spine, ISSN 1297-319X, 09/2019
Journal Article
Science, ISSN 0036-8075, 4/2011, Volume 332, Issue 6026, pp. 240 - 243
The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon... 
Messenger RNA | Splicing | Introns | Genes | REPORTS | Cell lines | Fibroblasts | Small nuclear RNA | Spliceosomes | Genetic mutation | Sequencing | U4 SNRNA | RNA SURVEILLANCE | PROTEIN | NONSENSE-MEDIATED DECAY | INTRONS | MULTIDISCIPLINARY SCIENCES | SPLICEOSOME | U12-TYPE | INBREEDING COEFFICIENT | DWARFISM | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Spliceosomes - genetics | Humans | Child, Preschool | Fetal Growth Retardation - genetics | Infant | Male | Chromosomes, Human, Pair 2 - genetics | Spliceosomes - metabolism | RNA Splicing | Dwarfism - metabolism | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Nucleic Acid Conformation | Inverted Repeat Sequences | Cell Line | RNA Splice Sites | Microcephaly - metabolism | Fetal Growth Retardation - metabolism | Dwarfism - genetics | Point Mutation | Base Pairing | Pedigree | RNA, Small Nuclear - chemistry | RNA, Small Nuclear - metabolism | Osteochondrodysplasias - metabolism | Genetic aspects | Properties | Developmental bone diseases | RNA splicing | Mental disorders | Ribonucleic acid--RNA | Developmental disabilities | Microcephaly | Chromosomes, Human, Pair 2 | Dwarfism | Life Sciences | Osteochondrodysplasias | Computer Science | RNA, Small Nuclear | Modeling and Simulation | Fetal Growth Retardation | Microtubule-Associated Proteins
Journal Article
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1660 - 1665
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and... 
SPINK1 gene | pancreatic lipomatosis | chronic pancreatitis | exocrine pancreatic insufficiency | Alu insertion | SYSTEMATIC ANALYSIS | HEREDITARY PANCREATITIS | VARIANTS | SHWACHMAN-DIAMOND-SYNDROME | IDENTIFICATION | GENETICS & HEREDITY | IVS3+2T-GREATER-THAN-C MUTATION | SERINE-PROTEASE INHIBITOR | ACINAR-CELLS | CYSTIC-FIBROSIS | KAZAL TYPE-1 | Exocrine Pancreatic Insufficiency - genetics | Sequence Deletion | Cystic Fibrosis - physiopathology | Humans | Infant | Lipomatosis - diagnostic imaging | Pancreatic Diseases - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - genetics | Cystic Fibrosis - diagnostic imaging | Trypsin Inhibitor, Kazal Pancreatic - metabolism | Exocrine Pancreatic Insufficiency - physiopathology | Exocrine Pancreatic Insufficiency - diagnostic imaging | Female | Alu Elements - genetics | Pancreatic Diseases - physiopathology | Genetic Predisposition to Disease | Lipomatosis - physiopathology | Lipomatosis - genetics | Bone Marrow Diseases - physiopathology | Bone Marrow Diseases - genetics | Pancreatic Diseases - genetics | Homozygote | Magnetic Resonance Imaging | Phenotype | Bone Marrow Diseases - diagnostic imaging | Cystic Fibrosis - genetics | Mutagenesis, Insertional | Pancreatic diseases | Genes | Trypsin | 3' Untranslated regions | Clonal deletion | Insertion | Cystic fibrosis | Lipomatosis | Pancreatic secretory trypsin | Children | Pancreas | Gene deletion
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2017, Volume 19, Issue 9, pp. 989 - 997
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A... 
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | KERATINOCYTE DIFFERENTIATION | DEFECTS | ANKYLOBLEPHARON | DISORDERS | POPLITEAL PTERYGIUM SYNDROME | P63 | GENETICS & HEREDITY | SPECTRUM | ECTODERMAL DYSPLASIAS | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases
Journal Article