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1. Full Text Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases
by Jang, Se Song and Lim, Byung Chan and Yoo, Seong‐Keun and Shin, Jong‐Yeon and Seo, Jeong‐Sun and Hwang, Doyeong and Yoo, Ki‐Young and Chae, Jong Hee and Kim, Jong‐Il
Prenatal Diagnosis, ISSN 0197-3851, 10/2018, Volume 38, Issue 11, pp. 835 - 840
What is already known about this topic? The noninvasive prenatal diagnosis of X‐linked disease can be accomplished via the haplotyping of 2 maternal alleles... 
DNA | GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Pregnancy | DNA Mutational Analysis | Recombination, Genetic | Humans | Female | Maternal Serum Screening Tests | Genetic Diseases, X-Linked - diagnosis | Multiprocessing | Pregnant women | Family | Haplotypes | Recombination | Prenatal diagnosis | DNA probes | Fetuses | Predictions | Diagnosis | Dosage | Medical diagnosis | Genotypes | Deoxyribonucleic acid--DNA | Diseases | Index Medicus
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2. 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, ISSN 0006-8950, 06/2013, Volume 136, Issue 6, pp. 1708 - 1717
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as... 
NBIA | iron | autophagy | basal ganglia | Rett syndrome | KINASE-ASSOCIATED NEURODEGENERATION | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | FEATURES | 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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3. 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
In the past, XLA was described as associated with several inflammatory conditions, but with adequate immune globulin treatment, these are presumed to have... 
Medical Microbiology | Biomedicine | Immunology | autoimmune | inflammation | primary immunodeficiency | antibody deficiency | Infectious Diseases | Internal Medicine | X-linked agammaglobulinemia | DISEASES | TYROSINE KINASE | BTK | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNE-DEFICIENCY | MUTATIONS | IMMUNOLOGY | 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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4. 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, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
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 | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | 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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5. Full Text Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
by Churchill, Jennifer D and Bowne, Sara J and Sullivan, Lori S and Lewis, Richard Alan and Wheaton, Dianna K and Birch, David G and Branham, Kari E and Heckenlively, John R and Daiger, Stephen P
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 02/2013, Volume 54, Issue 2, pp. 1411 - 1416
PURPOSE. We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP)... 
ACCOUNT | EXON ORF15 | OPHTHALMOLOGY | PREVALENCE | SPECTRUM | IDENTIFICATION | DISEASE-CAUSING MUTATIONS | DEGENERATION | ADRP | Electroretinography | Genes, X-Linked - genetics | Membrane Proteins - genetics | Humans | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Male | Intracellular Signaling Peptides and Proteins - metabolism | Genetic Diseases, X-Linked - metabolism | Genetic Diseases, X-Linked - diagnosis | Guanine Nucleotide Exchange Factors | Retinitis Pigmentosa - diagnosis | DNA - genetics | Phenotype | Eye Proteins - metabolism | Pedigree | Polymerase Chain Reaction | Adult | Female | Genetic Diseases, X-Linked - genetics | Membrane Proteins - metabolism | Eye Proteins - genetics | Mutation | Intracellular Signaling Peptides and Proteins - genetics | Index Medicus
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6. Full Text X-linked agammaglobulinemia: Report on a United States registry of 201 patients
by Winkelstein, Jerry A and Marino, Mary C and Lederman, Howard M and Jones, Stacie M and Sullivan, Kathleen and Burks, A. Wesley and Conley, Mary Ellen and Cunningham-Rundles, Charlotte and Ochs, Hans D
Medicine, ISSN 0025-7974, 07/2006, Volume 85, Issue 4, pp. 193 - 202
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase (BTK) that result in the deficient... 
Genetic Diseases, X-Linked - epidemiology | United States - epidemiology | Prevalence | Agammaglobulinemia - complications | Humans | Middle Aged | Child, Preschool | Genetic Diseases, X-Linked - complications | Agammaglobulinemia - diagnosis | Infant | Male | Cause of Death | Genetic Diseases, X-Linked - diagnosis | Incidence | Adolescent | Age of Onset | Adult | Registries | Agammaglobulinemia - epidemiology | Child | Causes of | Development and progression | Diagnosis | Reporting | Agammaglobulinemia | Diseases | Index Medicus | Abridged Index Medicus
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7. Full Text Craniosynostosis as the presenting feature of x-linked hypophosphatemic rickets
by Vakharia, Janaki D and Matlock, Kristal and Taylor, Helena O and Backeljauw, Philippe F and Topor, Lisa Swartz
Pediatrics, ISSN 0031-4005, 04/2018, Volume 141, Issue Suppl 5, pp. S515 - S519
Craniosynostosis is the premature closure of cranial sutures. Primary, or congenital, craniosynostosis is often sporadic but may be associated with genetic or... 
PEDIATRICS | SERIES | GENES | SYNOSTOSIS | Craniosynostoses - etiology | Familial Hypophosphatemic Rickets - diagnosis | Humans | Genetic Diseases, X-Linked - complications | Female | Infant | Male | Familial Hypophosphatemic Rickets - complications | Genetic Diseases, X-Linked - diagnosis | Infant, Newborn | Craniosynostoses | Usage | Genetic aspects | Fibroblast growth factors | Diagnosis | Research | Genetic screening | Phosphates | Congenital diseases | Genetic disorders | Premature birth | Abnormalities | Craniosynostosis | Infants | Gestation | Bone diseases | Rickets | Fibroblasts | Sutures | Hypophosphatemia | Index Medicus | Abridged Index Medicus
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8. Full Text Spectral-Domain Optical Coherence Tomography Measures of Outer Segment Layer Progression in Patients With X-Linked Retinitis Pigmentosa
by Birch, David G and Locke, Kirsten G and Wen, Yuquan and Locke, Kelly I and Hoffman, Dennis R and Hood, Donald C
JAMA Ophthalmology, ISSN 2168-6165, 09/2013, Volume 131, Issue 9, pp. 1143 - 1150
IMPORTANCE Determining the annual rate of change in the width of the inner segment ellipsoid zone (EZ; ie, inner/outer segment border) in the context of... 
VARIABILITY | SUPPLEMENTATION | TEST-RETEST | BOUNDARIES | CLINICAL-TRIAL | RECEIVING VITAMIN-A | DOCOSAHEXAENOIC ACID | DISEASE | ELECTRORETINOGRAM | OPHTHALMOLOGY | VISUAL-FIELD LOSS | Docosahexaenoic Acids - therapeutic use | Electroretinography | Double-Blind Method | Tomography, Optical Coherence | Humans | Middle Aged | Retinitis Pigmentosa - drug therapy | Retinitis Pigmentosa - genetics | Male | Retinal Photoreceptor Cell Outer Segment - pathology | Disease Progression | Genetic Diseases, X-Linked - diagnosis | Retinitis Pigmentosa - diagnosis | Young Adult | Genetic Diseases, X-Linked - drug therapy | Visual Fields | Adolescent | Retinal Photoreceptor Cell Inner Segment - pathology | Adult | Female | Genetic Diseases, X-Linked - genetics | Aged | Visual Field Tests | Child | Measurement | Usage | Care and treatment | Retinitis pigmentosa | Analysis | Ophthalmology | Diagnosis | Ellipsoid | Index Medicus | Abridged Index Medicus
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9. Full Text Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis
by Borgulova, I and Borgulova, I and Putzova, M and Putzova, M and Soldatova, I and Soldatova, I and Krautova, L and Krautova, L and Pecnova, L and Pecnova, L and Mika, J and Mika, J and Kren, R and Kren, R and Potuznikova, P and Potuznikova, P and Stejskal, D and Stejskal, D
Bratislavské lekárske listy, ISSN 0006-9248, 2015, Volume 116, Issue 9, pp. 542 - 546
BACKGROUND: Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH)... 
haplotype analysis | indirect diagnosis | X-linked inheritance | single gene mutation | CLINICAL SPECIMENS | WHOLE GENOME AMPLIFICATION | POLYMERASE | DROP-OUT | MULTIPLE DISPLACEMENT AMPLIFICATION | BLASTOMERES | SINGLE-CELL | MEDICINE, GENERAL & INTERNAL | EXONS | DNA | GENDER DETERMINATION | Haplotypes | Reproducibility of Results | Humans | Male | Preimplantation Diagnosis - methods | Genetic Diseases, X-Linked - diagnosis | Nucleic Acid Amplification Techniques | Pregnancy | Genetic Diseases, X-Linked - prevention & control | Czech Republic | Fertilization in Vitro | Embryo Transfer | Adult | Female | Genetic Diseases, X-Linked - genetics | Retrospective Studies | Mutation | Microsatellite Repeats | Pregnancy Rate | Cohort Studies | Genetic Linkage | Index Medicus
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10. Full Text Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity
by Gambineri, Eleonora, MD and Perroni, Lucia, PhD and Passerini, Laura, PhD and Bianchi, Lucia, PhD and Doglioni, Claudio, MD and Meschi, Franco, MD and Bonfanti, Riccardo, MD and Sznajer, Yves, MD and Tommasini, Alberto, MD and Lawitschka, Anita, MD and Junker, Anne, MD and Dunstheimer, Desiree, MD and Heidemann, Peter H., MD and Cazzola, Giantonio, MD and Cipolli, Marco, MD and Friedrich, Wilhelm, MD and Janic, Dragana, MD and Azzi, Nadira, MD and Richmond, Erick, MD and Vignola, Silvia, MD and Barabino, Arrigo, MD and Chiumello, Giuseppe, MD and Azzari, Chiara, MD, PhD and Roncarolo, Maria-Grazia, MD, PhD and Bacchetta, Rosa, MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2008, Volume 122, Issue 6, pp. 1105 - 1112.e1
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune genetic disorder caused by mutation of the forkhead... 
Allergy and Immunology | regulatory T cells | transcription factor | Immune dysregulation | autoimmunity | immunosuppressive treatment | polyendocrinopathy | enteropathy | X-linked syndrome | FOXP3 | bone marrow transplantation | Forkhead Transcription Factors - immunology | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Polyendocrinopathies, Autoimmune - therapy | Male | Intestinal Diseases - immunology | DNA Mutational Analysis - methods | Mutation - immunology | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Immunologic Deficiency Syndromes - therapy | Gene Expression Regulation - genetics | Gene Expression Regulation - immunology | Intestinal Diseases - genetics | Genotype | Protein Structure, Tertiary - genetics | Forkhead Transcription Factors - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Intestinal Diseases - therapy | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Phenotype | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, X-Linked - therapy | Genetic disorders | Stem cells | Bone marrow | Cystic fibrosis | Transplantation | Diabetes | Gene therapy | Antitank weapons | Proteins | Genotype & phenotype | Transplants & implants | Disease | Genes | Protein expression | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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11. Full Text Gastrointestinal Manifestations in X-linked Agammaglobulinemia
by Barmettler, Sara and Otani, Iris M and Minhas, Jasmit and Abraham, Roshini S and Chang, Yenhui and Dorsey, Morna J and Ballas, Zuhair K and Bonilla, Francisco A and Ochs, Hans D and Walter, Jolan E
Journal of Clinical Immunology, ISSN 0271-9142, 04/2017, Volume 37, Issue 3, pp. 287 - 294
X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although... 
gastrointestinal manifestations | GI manifestations | Bruton’s agammaglobulinemia | BTK | enteritis | IBD | X-linked agammaglobulinemia | XLA | inflammatory bowel disease | GENOTYPE-PHENOTYPE CORRELATION | CROHNS-DISEASE | IMMUNOGLOBULIN | HUMANS | IMMUNOLOGY | Bruton's agammaglobulinemia | BRUTONS TYROSINE KINASE | INFLAMMATORY-BOWEL-DISEASE | THERAPY | IMMUNODEFICIENCY | Agammaglobulinemia - complications | Genetic Association Studies | Agammaglobulinemia - therapy | Humans | Gastrointestinal Diseases - etiology | Genetic Diseases, X-Linked - complications | Agammaglobulinemia - diagnosis | Immunophenotyping | Infant | Male | Gastrointestinal Diseases - diagnosis | Gastrointestinal Tract - pathology | Genetic Diseases, X-Linked - diagnosis | Lymphocyte Subsets - immunology | Lymphocyte Subsets - metabolism | Immunoglobulin Isotypes - blood | Phenotype | Pedigree | Aged, 80 and over | Biomarkers | Mutation | Genetic Diseases, X-Linked - therapy | Index Medicus
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12. Full Text Rates of Decline in Regions of the Visual Field Defined by Frequency-Domain Optical Coherence Tomography in Patients with RPGR -Mediated X-Linked Retinitis Pigmentosa
by Birch, David G., PhD and Locke, Kirsten G., RN and Felius, Joost, PhD and Klein, Martin, MS and Wheaton, Dianna K.H., PhD and Hoffman, Dennis R., PhD and Hood, Donald C., PhD
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 4, pp. 833 - 839
Purpose To determine whether annual decline in visual field sensitivity is greater in the transition zone at the edge of the frequency-domain optical coherence... 
Ophthalmology | BOUNDARIES | CLINICAL-TRIAL | DOCOSAHEXAENOIC ACID | SENSITIVITY | OPHTHALMOLOGY | RECEPTOR | MULTIFOCAL ELECTRORETINOGRAM | HEALTHY | DISEASED RETINA | THICKNESS | Visual Fields - physiology | Prospective Studies | Follow-Up Studies | Tomography, Optical Coherence | Humans | Retina - physiopathology | Retinitis Pigmentosa - genetics | Male | Genetic Diseases, X-Linked - diagnosis | Retinitis Pigmentosa - diagnosis | Young Adult | Vision Disorders - physiopathology | Sensitivity and Specificity | Adolescent | Adult | Female | Genetic Diseases, X-Linked - genetics | Visual Field Tests | Eye Proteins - genetics | Mutation | Child | Retinitis Pigmentosa - physiopathology | Visual Acuity - physiology | Genetic Diseases, X-Linked - physiopathology | Tomography | Statistics | Index Medicus
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