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1. Full Text X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
by Engelen, Marc and Kemp, Stephan and de Visser, Marianne and van Geel, Björn M and Wanders, Ronald J. A and Aubourg, Patrick and Poll-The, Bwee Tien
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 51 - 51
Myelopathy | Demyelinating disorder | Leukodystrophy | Myelin | VLCFA | X-linked adrenoleukodystrophy | Peroxisome | X-ALD | Very long-chain fatty acids | ABCD1 | Addisons disease | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Diagnosis, Differential | Prognosis | Adrenoleukodystrophy - physiopathology | Humans | Male | Magnetic Resonance Imaging | Phenotype | Adrenoleukodystrophy - diagnosis | Adrenoleukodystrophy - therapy | Adolescent | Adult | Female | Adrenoleukodystrophy - genetics | Child | Practice Guidelines as Topic | Adrenoleukodystrophy | Gene mutations | Magnetic resonance imaging | Practice guidelines (Medicine) | Genetic aspects | Diagnosis | Fatty acids | Encephalitis | Spinal cord | Nuclear magnetic resonance--NMR | Adrenal glands | Disease | Colleges & universities | Hospitals | Genetic counseling | Brain research | Attention Deficit Hyperactivity Disorder | Boys | Mutation | Metabolic disorders | Index Medicus | Life Sciences | Genetics | Addison’s disease
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2. Full Text Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
by Uzel, Gulbu, MD and Sampaio, Elizabeth P., MD, PhD and Lawrence, Monica G., MD and Hsu, Amy P., BA and Hackett, Mary, BSN and Dorsey, Morna J., MD and Noel, Richard J., MD and Verbsky, James W., MD, PhD and Freeman, Alexandra F., MD and Janssen, Erin, MD and Bonilla, Francisco A., MD, PhD and Pechacek, Joseph, MS and Chandrasekaran, Prabha, PhD and Browne, Sarah K., MD and Agharahimi, Anahita, MSN, CRNP and Gharib, Ahmed M., MD and Mannurita, Sara C., MD and Yim, Jae Joon, MD, MPH and Gambineri, Eleonora, MD and Torgerson, Troy, MD, PhD and Tran, Dat Q., MD and Milner, Joshua D., MD and Holland, Steven M., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous | Biological and medical sciences | Medical sciences | Blood and lymphatic vessels | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects | Index Medicus | Abridged Index Medicus
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3. Full Text X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
by Aadam, Zahra and Kechout, Nadia and Barakat, Abdelhamid and Chan, Koon-Wing and Ben-Ali, Meriem and Ben-Mustapha, Imen and Zidi, Fethi and Ailal, Fatima and Attal, Nabila and Doudou, Fatouma and Abbadi, Mohamed-Cherif and Kaddache, Chawki and Smati, Leila and Touri, Nabila and Chemli, Jalel and Gargah, Tahar and Brini, Ines and Bakhchane, Amina and Charoute, Hicham and Jeddane, Leila and El Atiqi, Sara and El Hafidi, Naïma and Hida, Mustapha and Saile, Rachid and Alj, Hanane Salih and Boukari, Rachida and Bejaoui, Mohamed and Najib, Jilali and Barbouche, Mohamed-Ridha and Lau, Yu-Lung and Mellouli, Fethi and Bousfiha, Ahmed Aziz
Journal of clinical immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 187 - 194
Medical Microbiology | north african population | Biomedicine | Immunology | novel mutations | BTK | Infectious Diseases | Internal Medicine | XLA | Life Sciences & Biomedicine | Science & Technology | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Agammaglobulinemia - diagnosis | Infant | Male | Genetic Counseling | Protein-Tyrosine Kinases - immunology | Protein-Tyrosine Kinases - genetics | Morocco | Adult | Genetic Diseases, X-Linked - genetics | Algeria | Opportunistic Infections - immunology | B-Lymphocytes - pathology | Child | Tunisia | Opportunistic Infections - complications | Gene Expression | Agammaglobulinemia - complications | Genetic Association Studies | Gene Frequency | Opportunistic Infections - genetics | Sequence Analysis, DNA | Genetic Diseases, X-Linked - diagnosis | Opportunistic Infections - diagnosis | Genetic Diseases, X-Linked - immunology | B-Lymphocytes - immunology | Age of Onset | Alleles | Heterozygote | Mutation | Genetic research | Genetic aspects | B cells | Index Medicus | Agammaglobulinemia/diagnosis | Protein-Tyrosine Kinases/genetics | Agammaglobulinemia/complications | Life Sciences | Agammaglobulinemia/genetics | Genetic Diseases, X-Linked/complications | Opportunistic Infections/complications | Biochemistry, Molecular Biology | Agammaglobulinemia/immunology | Genetic Diseases, X-Linked/immunology | B-Lymphocytes/pathology | Genetic Diseases, X-Linked/diagnosis | Opportunistic Infections/diagnosis | B-Lymphocytes/immunology | Protein-Tyrosine Kinases/immunology | Agammaglobulinaemia Tyrosine Kinase | Opportunistic Infections/immunology | Opportunistic Infections/genetics | Genetic Diseases, X-Linked/genetics
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4. Full Text Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
by Deng, Han-Xiang and Chen, Wenjie and Hong, Seong-Tshool and Boycott, Kym M and Gorrie, George H and Siddique, Nailah and Yang, Yi and Fecto, Faisal and Shi, Yong and Zhai, Hong and Jiang, Hujun and Hirano, Makito and Rampersaud, Evadnie and Jansen, Gerard H and Donkervoort, Sandra and Bigio, Eileen H and Brooks, Benjamin R and Ajroud, Kaouther and Sufit, Robert L and Haines, Jonathan L and Mugnaini, Enrico and Pericak-Vance, Margaret A and Siddique, Teepu
Nature (London), ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Cell Cycle Proteins - analysis | Spinal Cord - metabolism | Ubiquitins - genetics | Humans | Ubiquitin - metabolism | Molecular Sequence Data | Male | Dementia - genetics | DNA-Binding Proteins - metabolism | Base Sequence | Aging | Cell Cycle Proteins - genetics | Adult | Female | Child | Amino Acid Sequence | Cell Line | Dementia - pathology | Genes, X-Linked - genetics | Amyotrophic Lateral Sclerosis - genetics | Mutation - genetics | Amyotrophic Lateral Sclerosis - complications | Hippocampus - metabolism | Amyotrophic Lateral Sclerosis - pathology | Dementia - complications | Pedigree | Age of Onset | Ubiquitins - analysis | Proteasome Endopeptidase Complex - metabolism | Genes, Dominant - genetics | Amyotrophic lateral sclerosis | Genetic aspects | Diagnosis | Research | Gene mutations | Dementia | Proteins | Studies | Pathology | Pathogenesis | Neurodegeneration | Mutation | Alzheimers disease | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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5. Full Text Autoimmunity and Inflammation in X-linked Agammaglobulinemia
by Hernandez-Trujillo, Vivian P and Scalchunes, Chris and Cunningham-Rundles, Charlotte and Ochs, Hans D and Bonilla, Francisco A and Paris, Ken and Yel, Leman and Sullivan, Kathleen E
Journal of clinical immunology, ISSN 0271-9142, 8/2014, Volume 34, Issue 6, pp. 627 - 632
Medical Microbiology | Biomedicine | Immunology | autoimmune | inflammation | primary immunodeficiency | antibody deficiency | Infectious Diseases | Internal Medicine | X-linked agammaglobulinemia | Life Sciences & Biomedicine | Science & Technology | Autoimmunity | Crohn Disease - epidemiology | Agammaglobulinemia - immunology | Prevalence | United States | Arthritis - epidemiology | Humans | Inflammatory Bowel Diseases - immunology | Middle Aged | Arthritis - diagnosis | Inflammatory Bowel Diseases - diagnosis | Child, Preschool | Agammaglobulinemia - diagnosis | Infant | Male | Data Collection | Young Adult | Inflammatory Bowel Diseases - epidemiology | Crohn Disease - diagnosis | Arthritis - immunology | Adult | Female | Surveys and Questionnaires | Child | Genetic Diseases, X-Linked - epidemiology | Inflammation - immunology | Crohn Disease - immunology | Genetic Diseases, X-Linked - diagnosis | Genetic Diseases, X-Linked - immunology | Adolescent | Agammaglobulinemia - epidemiology | Arthritis | Inflammation | Health surveys | Agammaglobulinemia | Immunodeficiency | Index Medicus
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6. Full Text X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability
by Marciano, Beatriz E., MD and Zerbe, Christa S., MD and Falcone, E. Liana, MD PhD and Ding, Li, MD and DeRavin, Suk See, MD PhD and Daub, Janine, CRNP and Kreuzburg, Samantha, CRNP and Yockey, Lynne, CRNP and Hunsberger, Sally, PHD and Foruraghi, Ladan, CRNP and Barnhart, Lisa A., CRNP and Matharu, Kabir, MD and Anderson, Victoria, CRNP and Darnell, Dirk N., CRNP and Frein, Cathleen, CRNP and Fink, Danielle L., MS and Lau, Karen P., MS and Long Priel, Debra A., MS and Gallin, John I., MD and Malech, Harry L., MD and Uzel, Gulbu, MD and Freeman, Alexandra F., MD and Kuhns, Douglas B., PhD and Rosenzweig, Sergio D., MD PhD and Holland, Steven M., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 365 - 371
Allergy and Immunology | X inactivation | lyonization | Superoxide | autoimmunity | dihydrorhodamine flow cytometry test | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Granulomatous Disease, Chronic - genetics | Symptom Assessment | Child, Preschool | Infant | Granulomatous Disease, Chronic - complications | Granulomatous Disease, Chronic - immunology | Immunoglobulin M - immunology | Infection - etiology | Young Adult | Genes, X-Linked | Immunoglobulin G - immunology | Aged, 80 and over | Adult | Female | Odds Ratio | Child | Granulomatous Disease, Chronic - diagnosis | Genetic Association Studies | Phenotype | Adolescent | Biomarkers | Heterozygote | Aged | Mutation | X Chromosome Inactivation | Lupus | Chronic granulomatous disease | Populations | Deactivation | X-Chromosome inactivation | Disease | Neutrophils | Health risks | Infections | Arthritis | Inflammation | Inactivation | Patients | Carriers | X Chromosomes | Bacteria | Software | Oxidation | Aberration | Chromosomes | Age | Index Medicus | Abridged Index Medicus
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7. Full Text Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
by Hayflick, Susan J and Kruer, Michael C and Gregory, Allison and Haack, Tobias B and Kurian, Manju A and Houlden, Henry H and Anderson, James and Boddaert, Nathalie and Sanford, Lynn and Harik, Sami I and Dandu, Vasuki H and Nardocci, Nardo and Zorzi, Giovanna and Dunaway, Todd and Tarnopolsky, Mark and Skinner, Steven and Holden, Kenton R and Frucht, Steven and Hanspal, Era and Schrander-Stumpel, Connie and Mignot, Cyril and Heron, Delphine and Saunders, Dawn E and Kaminska, Margaret and Lin, Jean-Pierre and Lascelles, Karine and Cuno, Stephan M and Meyer, Esther and Garavaglia, Barbara and Bhatia, Kailash and de Silva, Rajith and Crisp, Sarah and Lunt, Peter and Carey, Martyn and Hardy, John and Meitinger, Thomas and Prokisch, Holger and Hogarth, Penelope
Brain (London, England : 1878), ISSN 0006-8950, 06/2013, Volume 136, Issue 6, pp. 1708 - 1717
NBIA | iron | autophagy | basal ganglia | Rett syndrome | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Humans | Middle Aged | Neurodegenerative Diseases - diagnosis | Male | Neurodegenerative Diseases - genetics | Genetic Diseases, X-Linked - metabolism | Neurodegenerative Diseases - metabolism | Mutation - genetics | Iron - metabolism | Genetic Diseases, X-Linked - diagnosis | Brain - metabolism | Young Adult | Carrier Proteins - genetics | Adolescent | Adult | Female | Genetic Diseases, X-Linked - genetics | Cohort Studies | Index Medicus | Abridged Index Medicus | Basal ganglia | Original
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8. Full Text Four-Year Placebo-Controlled Trial of Docosahexaenoic Acid in X-Linked Retinitis Pigmentosa (DHAX Trial): A Randomized Clinical Trial
by Hoffman, Dennis R and Hughbanks-Wheaton, Dianna K and Pearson, N. Shirlene and Fish, Gary E and Spencer, Rand and Takacs, Alison and Klein, Martin and Locke, Kirsten G and Birch, David G
JAMA ophthalmology, ISSN 2168-6165, 05/2014, Volume 132, Issue 7, pp. 866 - 873
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Male | Chromatography, Gas | Young Adult | Capsules | Genetic Diseases, X-Linked - drug therapy | Adult | Child | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Docosahexaenoic Acids - therapeutic use | Electroretinography | Double-Blind Method | Administration, Oral | Retinitis Pigmentosa - drug therapy | Erythrocyte Membrane - metabolism | Retinal Cone Photoreceptor Cells - physiology | Treatment Outcome | Docosahexaenoic Acids - administration & dosage | Disease Progression | Genetic Diseases, X-Linked - diagnosis | Retinitis Pigmentosa - diagnosis | Docosahexaenoic Acids - blood | Retinal Rod Photoreceptor Cells - physiology | Adolescent | Usage | Retinitis pigmentosa | Causes of | Research | Diagnosis | Health aspects | Omega-3 fatty acids | Index Medicus | Abridged Index Medicus
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