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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 465 - 469
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions... 
microcephaly | RNU4ATAC | Lowry Wood syndrome | skeletal dysplasia | epiphyseal dysplasia | TAYBI-LINDER SYNDROME | DEVELOPMENTAL DISORDER | OSTEODYSPLASTIC PRIMORDIAL DWARFISM | SHORT STATURE | NYSTAGMUS | U4ATAC SNRNA | GENETICS & HEREDITY | PATIENT | MOPD I | ASSOCIATION | Retinal Diseases - genetics | Microcephaly - genetics | Humans | Child, Preschool | Mental Retardation, X-Linked - physiopathology | Fetal Growth Retardation - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Mental Retardation, X-Linked - genetics | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Microcephaly - physiopathology | Dwarfism - physiopathology | Developmental Disabilities - physiopathology | Fetal Growth Retardation - physiopathology | Intellectual Disability - physiopathology | Dwarfism - genetics | Osteochondrodysplasias - physiopathology | Phenotype | Immunologic Deficiency Syndromes - physiopathology | Adolescent | Immunologic Deficiency Syndromes - genetics | Mutation | Growth Disorders - genetics | Retinal Diseases - physiopathology | Growth Disorders - physiopathology | Medicine, Experimental | Medical research | Dysplasia | Genetic aspects | Immunodeficiency | Dwarfism | Microencephaly | Etiology | Bone dysplasia | Skeleton | Microcephaly | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1743 - 1753
Abstract LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively... 
TRANSLOCATION | CODAS SYNDROME | DNA | SUBSTRATE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COPY NUMBER | GENETICS & HEREDITY | DEGRADATION | MUTATIONS | TRANSCRIPTION FACTOR | BINDING | AAA PROTEASE | Hip Dislocation, Congenital - metabolism | ATP-Dependent Proteases - genetics | Tooth Abnormalities - physiopathology | Tooth Abnormalities - metabolism | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Leigh Disease - metabolism | Mitochondrial Proteins - genetics | Craniofacial Abnormalities - physiopathology | Osteochondrodysplasias - genetics | Mitochondria - genetics | Craniofacial Abnormalities - metabolism | Eye Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Leigh Disease - physiopathology | Mitochondrial Diseases - genetics | Cell Line | Tooth Abnormalities - genetics | Oxidative Phosphorylation | Hip Dislocation, Congenital - genetics | Mitochondria - pathology | Eye Abnormalities - genetics | Leigh Disease - genetics | Whole Exome Sequencing | Exome - genetics | Osteochondrodysplasias - physiopathology | Growth Disorders - metabolism | Biopsy | Muscle, Skeletal - physiopathology | Eye Abnormalities - physiopathology | Hip Dislocation, Congenital - physiopathology | Mutation | Growth Disorders - genetics | Mitochondrial Diseases - physiopathology | Growth Disorders - physiopathology | Osteochondrodysplasias - metabolism | Index Medicus | transcription factor | translocation | binding | degradation | aaa protease | Genetics & Heredity | Medicinsk genetik | Medical Genetics | Biochemistry & Molecular Biology | mutations | Biokemi och molekylärbiologi | codas syndrome | dna | Biochemistry and Molecular Biology | copy number | substrate
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2018, Volume 26, Issue 6, pp. 876 - 885
Journal Article
Clinical genetics, ISSN 0009-9163, 2016, Volume 90, Issue 6, pp. 550 - 555
Journal Article
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 2014, Volume 170, Issue 5, pp. 677 - 684
Objective: To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.... 
DIAGNOSIS | GROWTH-HORMONE | ENDOCRINOLOGY & METABOLISM | LERI-WEILL DYSCHONDROSTEOSIS | GENETIC-HETEROGENEITY | DISORDERS | MUTATIONS | HYPOCHONDROPLASIA | DEFICIENCY | CHILDREN | HAPLOINSUFFICIENCY | Limb Deformities, Congenital - genetics | Prevalence | Prospective Studies | Humans | Child, Preschool | Growth Disorders - etiology | Family Health | Fetal Growth Retardation - genetics | Hospitals, Pediatric | Infant | Limb Deformities, Congenital - physiopathology | Male | Bone Diseases, Developmental - genetics | Osteochondrodysplasias - epidemiology | Bone Diseases, Developmental - physiopathology | Genetic Variation | Lordosis - genetics | Osteochondrodysplasias - genetics | Growth Disorders - epidemiology | Hospitals, Teaching | Female | Bone Diseases, Developmental - epidemiology | Child | Dwarfism - physiopathology | France - epidemiology | Fetal Growth Retardation - epidemiology | Fetal Growth Retardation - physiopathology | Lordosis - epidemiology | Dwarfism - genetics | Bone and Bones - physiopathology | Osteochondrodysplasias - physiopathology | Limb Deformities, Congenital - epidemiology | Adolescent | Dwarfism - epidemiology | Infant, Small for Gestational Age | Lordosis - physiopathology | Referral and Consultation | Bone and Bones - abnormalities | Growth Disorders - genetics | Cohort Studies | Growth Disorders - physiopathology | Index Medicus
Journal Article
Bone, ISSN 8756-3282, 2012, Volume 53, Issue 1, pp. 248 - 258
Abstract Spondylocostal dysostosis (SCDO) is a genetic disorder characterized by severe malformation of the axial skeleton. Mesp2 encodes a basic... 
Orthopedics | Spondylocostal dysostosis | Vertebrae | Skeletal development | Spondylothoracic dysostosis | The segmentation clock | INTERVERTEBRAL DISCS | TGF-BETA | EMBRYONIC-DEVELOPMENT | ENDOCHONDRAL BONE-FORMATION | SOMITE SEGMENTATION | INDIAN HEDGEHOG | CHONDROCYTE DIFFERENTIATION | ABNORMAL VERTEBRAL SEGMENTATION | LUNATIC-FRINGE GENE | ENDOCRINOLOGY & METABOLISM | NOTCH SIGNALING PATHWAY | Ribs - physiopathology | Tomography, X-Ray Computed | Contracture - genetics | Dysostoses - physiopathology | Ribs - abnormalities | Spine - abnormalities | Heart Defects, Congenital - genetics | Osteochondrodysplasias - genetics | Abnormalities, Multiple - genetics | Hernia, Diaphragmatic - physiopathology | Contracture - physiopathology | Disease Models, Animal | Basic Helix-Loop-Helix Transcription Factors - physiology | Dysostoses - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Hernia, Diaphragmatic - genetics | Spine - physiopathology | Abnormalities, Multiple - physiopathology | Mice, Knockout | Bone and Bones - physiopathology | Osteochondrodysplasias - physiopathology | Animals | Fluorescent Antibody Technique | Heart Defects, Congenital - physiopathology | Mice | Transforming growth factors | Developmental biology | Genetic transcription | Index Medicus | Cell proliferation | Pattern formation | Transcription factors | somites | Image processing | Spine | Insertion | Dysostosis | Transforming growth factor- beta | Bone (axial) | Ossification | Computed tomography | Chondrocytes | Bone morphogenetic proteins | Extracellular matrix | Helix-loop-helix proteins | Differentiation | Immunofluorescence
Journal Article
Pediatric Diabetes, ISSN 1399-543X, 11/2015, Volume 16, Issue 7, pp. 510 - 520
BackgroundWolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy... 
liver steatosis | Wolcott–Rallison syndrome | pathology | diabetes mellitus permanent neonatal | endoplasmic reticulum | Pathology | Endoplasmic reticulum | Wolcott-Rallison syndrome | Diabetes mellitus permanent neonatal | Liver steatosis | VIABILITY | EIF2AK3 | PROLIFERATION | ENDOPLASMIC-RETICULUM STRESS | TRANSLATIONAL CONTROL | GLUCOSE-HOMEOSTASIS | PERK EIF2-ALPHA KINASE | MUTATION | LIVER | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | EXPRESSION | Osteochondrodysplasias - pathology | Liver - pathology | Pancreas - physiopathology | Kidney - pathology | Humans | Endoplasmic Reticulum - metabolism | Family Health | Infant | Liver Failure, Acute - etiology | Male | Liver - physiopathology | Endoplasmic Reticulum - ultrastructure | Epiphyses - abnormalities | Endoplasmic Reticulum - pathology | Kidney - metabolism | Pancreas - ultrastructure | Osteochondrodysplasias - genetics | Autopsy | Myocardium - metabolism | Epiphyses - physiopathology | Epiphyses - pathology | Kidney - physiopathology | Myocardium - ultrastructure | eIF-2 Kinase - genetics | Heart - physiopathology | Liver - ultrastructure | Diabetes Mellitus, Type 1 - physiopathology | Liver - metabolism | Diabetes Mellitus, Type 1 - pathology | Diabetes Mellitus, Type 1 - genetics | Pancreas - pathology | Myocardium - pathology | Delayed Diagnosis | Osteochondrodysplasias - diagnosis | Pancreas - metabolism | Kidney - ultrastructure | Diabetes Mellitus, Type 1 - diagnosis | Osteochondrodysplasias - physiopathology | Consanguinity | Mutation | Infants (Newborn) | Dysplasia | Diabetes | Analysis | Liver | Index Medicus | Life Sciences
Journal Article
Current Biology, ISSN 0960-9822, 10/2014, Volume 24, Issue 19, pp. 2327 - 2334
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 70 - 70
Journal Article
Human Genomics, ISSN 1473-9542, 01/2018, Volume 12, Issue 1, pp. 3 - 3
Background: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is... 
Wholeexome sequencing | Prenatal diagnosis | WES | Microcephalic osteodysplastic primordial dwarfism type 1 | RNA secondary structure | Taybi-Linder syndrome | MOPD1 | Small nuclear RNA | Genetic counselling | Noncoding RNU4ATAC gene | MUTATIONAL SPECTRUM | CHROMOSOME 13Q | Whole-exome sequencing | DEVELOPMENTAL DISORDER | SEQUENCE VARIANTS | SHORT STATURE | INTRONS | DWARFISM TYPE-I | U4ATAC SNRNA | GENETICS & HEREDITY | MOPD I | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Humans | Fetal Growth Retardation - genetics | Male | Dwarfism - diagnosis | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | China | Female | Microcephaly - physiopathology | Osteochondrodysplasias - diagnostic imaging | Fetal Growth Retardation - diagnosis | Nucleic Acid Conformation | Dwarfism - physiopathology | Genetic Predisposition to Disease | Microcephaly - diagnosis | DNA Copy Number Variations - genetics | Fetus - physiopathology | Microcephaly - diagnostic imaging | Osteochondrodysplasias - diagnosis | Whole Exome Sequencing | Fetal Growth Retardation - physiopathology | Pregnancy | Dwarfism - genetics | Exome - genetics | Osteochondrodysplasias - physiopathology | Phenotype | Pedigree | Chromosome Aberrations | RNA, Small Nuclear - chemistry | Dwarfism - diagnostic imaging | Mutation | Index Medicus
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