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The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 152 - 160
Journal Article
Respiratory Medicine, ISSN 0954-6111, 2017, Volume 129, pp. 16 - 23
Abstract We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated... 
Pulmonary/Respiratory | NKX2-1 | Treatment | Prognosis | Surfactant | Interstitial lung disease | Steroids | CARDIAC & CARDIOVASCULAR SYSTEMS | BENIGN HEREDITARY CHOREA | FOLLOW-UP | NKX2-1 MUTATIONS | PROTEIN-C | PHENOTYPIC SPECTRUM | GENE | RESPIRATORY SYSTEM | CONGENITAL HYPOTHYROIDISM | TRANSCRIPTION FACTOR-I | THYROID SYNDROME | RESPIRATORY-FAILURE | Respiratory Distress Syndrome, Newborn - complications | Humans | Athetosis - genetics | Male | Pulmonary Surfactants - metabolism | Respiratory Distress Syndrome, Newborn - pathology | Tomography, X-Ray Computed | Lung Diseases - therapy | Pulmonary Surfactant-Associated Protein B - genetics | Lung Diseases, Interstitial - diagnostic imaging | Lung Diseases, Interstitial - therapy | Chorea - complications | Respiratory Distress Syndrome, Newborn - etiology | Pulmonary Alveolar Proteinosis - genetics | Congenital Hypothyroidism - genetics | Respiratory Distress Syndrome, Newborn - genetics | Adult | Female | Thyroid Nuclear Factor 1 - genetics | Retrospective Studies | Lung Diseases, Interstitial - physiopathology | Child | Genes, Homeobox | France - epidemiology | Pulmonary Surfactant-Associated Protein B - deficiency | Respiratory Function Tests - methods | Treatment Outcome | Lung Diseases, Interstitial - complications | Chorea - pathology | Pulmonary Alveolar Proteinosis - complications | Lung Diseases - genetics | Lung Diseases, Interstitial - genetics | Athetosis - complications | Adolescent | Congenital Hypothyroidism - pathology | Lung Diseases - complications | Bronchoalveolar Lavage Fluid - chemistry | Lung Diseases - pathology | Mutation | Chorea - genetics | Athetosis - pathology | Congenital Hypothyroidism - complications | Analysis | Lung diseases | Therapeutics | Genetic research | Transplantation of organs, tissues, etc | Pulmonary function tests | Genetic aspects | Homeopathy | Materia medica and therapeutics | Development and progression | Hypothyroidism | Neonates | Brain | Respiratory function | Transcription factors | Intelligence | Syngeneic grafts | Lung transplantation | Medical services | Azithromycin | Families & family life | Transplantation | Thyroid gland | Homeobox | Proteins | Heterogeneity | Genetic analysis | Xenografts | Diagnosis | Children | Deoxyribonucleic acid--DNA | Thyroid | Surfactants | Patients | Hydroxychloroquine | Pulmonary fibrosis | Respiratory distress syndrome | Steroid hormones
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2011, Volume 6, Issue 11, p. e27348
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result... 
HADH2 | ENZYME | MENTAL-RETARDATION | 17-BETA-HYDROXYSTEROID-DEHYDROGENASE | MULTIDISCIPLINARY SCIENCES | HUMAN HEALTH | DISEASE | ISOLEUCINE METABOLISM | COENZYME-A DEHYDROGENASE | 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE-DEFICIENCY | ABNORMAL-BEHAVIOR | Mitochondria - enzymology | Electron Transport | Fibroblasts - enzymology | Carboxylic Acids - urine | Humans | Child, Preschool | Molecular Sequence Data | Athetosis - genetics | Male | Electroencephalography | 3-Hydroxyacyl CoA Dehydrogenases - genetics | Learning Disorders - enzymology | Chorea - complications | DNA Mutational Analysis | Base Sequence | Adult | Epilepsy - genetics | Female | 3-Hydroxyacyl CoA Dehydrogenases - chemistry | Child | Infant, Newborn | Epilepsy - enzymology | Learning Disorders - complications | Amino Acid Sequence | Athetosis - enzymology | Epilepsy - urine | Mutation - genetics | Epilepsy - complications | Pregnancy | Metabolic Networks and Pathways | Polymorphism, Restriction Fragment Length | Athetosis - complications | Learning Disorders - genetics | Chorea - enzymology | Chorea - genetics | Athetosis - urine | Chorea - urine | Learning Disorders - urine | Enzymes | Epilepsy | Genes | Development and progression | Amino acids | Learning disabilities | Genetic aspects | Mental illness | Pediatrics | Nuclear magnetic resonance--NMR | Dehydrogenases | Intellectual disabilities | Family medical history | Proteins | Mitochondria | Missense mutation | Etiology | Metabolic acidosis | Age | Neurochemistry | Urine | Metabolism | Minority & ethnic groups | Medicine | Choreoathetosis | Brain research | Valine | Mutation | Alzheimers disease | Acidosis | Developmental disabilities | Polymorphism | Nuclear magnetic resonance | NMR
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 518 - 523
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 03/2005, Volume 25, Issue 3, pp. 323 - 324
Journal Article
Movement Disorders, ISSN 0885-3185, 02/2006, Volume 21, Issue 2, pp. 241 - 244
Journal Article
Experimental and Clinical Endocrinology & Diabetes, ISSN 0947-7349, 02/2018, Volume 126, Issue 2, pp. 85 - 90
Journal Article
Journal Article