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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2013, Volume 110, Issue 7, pp. 2611 - 2616
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
Background The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination... 
Allergy and Immunology | immune repertoire | autoimmunity | V(D)J recombination | genotype-phenotype correlation | Recombination-activating gene 1 | severe combined immune deficiency | Omenn syndrome | REPERTOIRE | SEVERE COMBINED IMMUNODEFICIENCY | COMBINED IMMUNE-DEFICIENCY | OMENN-SYNDROME | IMMUNOLOGY | GRANULOMATOUS-DISEASE | HYPOMORPHIC RAG1 MUTATIONS | B-CELL | ALLERGY | T-CELLS | T-cell receptor | Granuloma | Recombination | Lymphocytes B | RAG1 protein | Immunodeficiency | Mutation | B-cell receptor | Autoimmune diseases | RAG gene | RSS Recombination signal sequence | gamma delta -T SCID with expansion of gamma delta T lymphocytes | CDR Complementarity-determining region | RAG Recombination-activating gene | A-MuLV Abelson murine leukemia virus | NBR Nonamer-binding region | TCR T-cell receptor | CID-G/A Combined immune deficiency with granuloma and/or autoimmunity | PON-P Pathogenic Or Not Pipeline | HBR Heptamer-binding region | Molecular modelling | RF Reading frame | GFP Green fluorescent protein | Green fluorescent protein | mRag1 Mouse Rag1 | hRAG1 Human RAG1 | ICL Idiopathic CD4+ T-cell lymphopenia | SCID Severe combined immune deficiency | OS Omenn syndrome | RAG-1 protein | Genetic Association Studies | T-Lymphocytes | Genes | Humans | V(D)J Recombination | B-Lymphocytes | Child, Preschool | Infant | Patients | Proteins | Genotype & phenotype | Phenotype | Lymphocytes | Homeodomain Proteins | Gene Rearrangement | Immunoglobulin Heavy Chains | Alleles | Protein expression | Severe Combined Immunodeficiency | Child | Gene Order | Infant, Newborn | Homeodomain Proteins - metabolism | Severe Combined Immunodeficiency - immunology | Homeodomain Proteins - genetics | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | T-Lymphocytes - metabolism | Severe Combined Immunodeficiency - metabolism | T-Lymphocytes - immunology | B-Lymphocytes - metabolism | Immunoglobulin Heavy Chains - genetics | Autoimmunity | Analysis | Children's hospitals | Genetic research | Genetic aspects | T cells | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 2018, Volume 40, Issue 2, pp. e77 - e82
An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and... 
Mahidol thalassemia severity score | β-thalassemia | genotype-phenotype correlation | SYSTEM | POPULATION | GLOBIN GENE | ONCOLOGY | PEDIATRICS | SPECTRUM | HEMATOLOGY | beta-thalassemia | SEVERITY | CHILDREN | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 183 - 190
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 77 - 86
Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been... 
GPI ethanolamine phosphate transferase 1 | Human | Glycosylphosphatidylinositol anchors | Hypotonia | Intractable | PIGN | Epilepsy | Infantile | Congenital disorders of glycosylation | Genotype-phenotype association | Spasms | epilepsy | spasms | infantile | intractable | DISORDERS | ANCHORED PROTEINS | GLYCOSYLATION | hypotonia | GLYCOSYLPHOSPHATIDYLINOSITOL | DEFICIENCY | congenital disorders of glycosylation | YEAST | genotype-phenotype association | glycosylphosphatidylinositol anchors | MENTAL-RETARDATION SYNDROME | GENETICS & HEREDITY | HYPERPHOSPHATASIA | MUTATIONS | human | Gastroesophageal reflux | Brain | Congenital defects | Nails | Finger | Toe | Mental retardation | Palate | Glycosylphosphatidylinositol | Mutation | Seizures | Siblings | Abnormalities, Multiple - pathology | Prognosis | Seizures - genetics | Humans | Child, Preschool | Epilepsy - congenital | Infant | Male | Developmental Disabilities - genetics | Seizures - congenital | Young Adult | Developmental Disabilities - pathology | Seizures - pathology | Adult | Epilepsy - genetics | Female | Child | Phosphotransferases - genetics | Abnormalities, Multiple - genetics | Muscle Hypotonia - genetics | Genetic Association Studies | Genotype | Mutation - genetics | Syndrome | Muscle Hypotonia - congenital | Muscle Hypotonia - pathology | Phenotype | Pedigree | Adolescent | Epilepsy - pathology
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 1, pp. 61 - 70
Journal Article