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1. Full Text Genetics of familial forms of thrombocytopenia
by Balduini, Carlo L and Savoia, Anna
Human genetics, ISSN 0340-6717, 12/2012, Volume 131, Issue 12, pp. 1821 - 1832
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Contractile Proteins - genetics | Humans | Gray Platelet Syndrome - genetics | Integrins - genetics | Myosin Heavy Chains - genetics | Platelet Membrane Glycoproteins - genetics | Chromosomes, Human, Pair 11 - genetics | Molecular Motor Proteins - genetics | Wiskott-Aldrich Syndrome - genetics | Thrombocytopenia - blood | Filamins | Jacobsen Distal 11q Deletion Syndrome - genetics | Thrombocytopenia - genetics | Ankyrin Repeat - genetics | ATP-Binding Cassette Transporters - genetics | Bernard-Soulier Syndrome - genetics | GATA1 Transcription Factor - genetics | Genetic Diseases, X-Linked - genetics | Mutation | von Willebrand Diseases - genetics | Microfilament Proteins - genetics | Index Medicus | Thrombocytopenia | Clinical aspects | Reviews | Etiology | Platelets | Fechtner syndrome
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2. Full Text Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
by Boyden, Lynn M and Atzmony, Lihi and Hamilton, Claire and Zhou, Jing and Lim, Young H and Hu, Ronghua and Pappas, John and Rabin, Rachel and Ekstien, Joseph and Hirsch, Yoel and Prendiville, Julie and Lifton, Richard P and Ferguson, Shawn and Choate, Keith A
American journal of human genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 1023 - 1029
Mendelian | exome sequencing | genetics | disease gene | blindness | AP1B1 | deafness | ichthyosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Proliferation - genetics | Deafness - genetics | Genes, Recessive - genetics | Humans | Photophobia - genetics | Male | Mutation - genetics | Protein Transport - genetics | Hearing Loss - genetics | Thrombocytopenia - genetics | Cell Differentiation - genetics | Adaptor Protein Complex 1 - genetics | Phenotype | Ichthyosis - genetics | Female | Adaptor Protein Complex beta Subunits - genetics | Protein Subunits - genetics | Medicine, Experimental | Medical research | Research | Gene mutations | Risk factors | Ichthyosis | Vision disorders | Usage | Genetic aspects | Exome sequencing | Index Medicus | Report
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3. Full Text Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome
by Colobran, Roger and Álvarez de la Campa, Elena and Soler-Palacín, Pere and Martín-Nalda, Andrea and Pujol-Borrell, Ricardo and de la Cruz, Xavier and Martínez-Gallo, Mónica
Clinical immunology (Orlando, Fla.), ISSN 1521-6616, 2016, Volume 163, pp. 60 - 65
Allergy and Immunology | Autoimmunity | IPEX | Mutation | FOXP3 | Primary immunodeficiency | Life Sciences & Biomedicine | Immunology | Science & Technology | Eczema - genetics | Eczema - immunology | Immune System Diseases - genetics | Humans | Diabetes Mellitus, Type 1 - congenital | Infant | Male | Meningoencephalitis - immunology | Thrombocytopenia - genetics | Immunoglobulin E - immunology | Diarrhea - immunology | Eosinophilia - genetics | Fatal Outcome | Hepatomegaly - immunology | Genetic Diseases, X-Linked - genetics | Diabetes Mellitus, Type 1 - immunology | Dimerization | Hemorrhage - genetics | Sepsis - immunology | Splenomegaly - genetics | Growth Disorders - immunology | Hemorrhage - immunology | Splenomegaly - immunology | Thrombocytopenia - immunology | Immune System Diseases - immunology | Leukocytosis - immunology | Meningoencephalitis - genetics | Diabetes Mellitus, Type 1 - genetics | Models, Molecular | Klebsiella Infections - genetics | Hepatomegaly - genetics | Forkhead Transcription Factors - genetics | Sepsis - genetics | Lung Diseases - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Thymus Gland - abnormalities | Lung Diseases - genetics | Eosinophilia - immunology | Diarrhea - genetics | Klebsiella Infections - immunology | Phenylalanine - genetics | Hydrophobic and Hydrophilic Interactions | Growth Disorders - genetics | Leukocytosis - genetics | Index Medicus
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4. Full Text Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
by Lemaire, Mathieu and Frémeaux-Bacchi, Véronique and Schaefer, Franz and Choi, Murim and Tang, Wai Ho and Quintrec, Moglie Le and Fakhouri, Fadi and Taque, Sophie and Nobili, François and Martinez, Frank and Ji, Weizhen and Overton, John D and Mane, Shrikant M and Nürnberg, Gudrun and Altmüller, Janine and Thiele, Holger and Morin, Denis and Deschenes, Georges and Baudouin, Véronique and Llanas, Brigitte and Collard, Laure and Majid, Mohammed A and Simkova, Eva and Nürnberg, Peter and Rioux-Leclerc, Nathalie and Moeckel, Gilbert W and Gubler, Marie Claire and Hwa, John and Loirat, Chantal and Lifton, Richard P
Nature genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 531 - 536
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hemolytic-Uremic Syndrome - etiology | Renal Insufficiency, Chronic | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Acute Kidney Injury - genetics | Mutation - genetics | Diacylglycerol Kinase - genetics | Immunoenzyme Techniques | Thrombotic Microangiopathies - genetics | Hemolytic-Uremic Syndrome - pathology | Thrombocytopenia - genetics | Exome - genetics | Female | Atypical Hemolytic Uremic Syndrome | Child | Care and treatment | Gene mutations | Von Willebrand factor | Genetic aspects | Research | Health aspects | Hemolytic-uremic syndrome | Risk factors | Proteins | Studies | Confidence intervals | Pediatrics | Genealogy | Databases | Genetics | Amino acids | Genomes | Mutation | Age | Siblings | Index Medicus | Life Sciences
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5. Full Text ACTN1 Mutations Cause Congenital Macrothrombocytopenia
by Kunishima, Shinji and Okuno, Yusuke and Yoshida, Kenichi and Shiraishi, Yuichi and Sanada, Masashi and Muramatsu, Hideki and Chiba, Kenichi and Tanaka, Hiroko and Miyazaki, Koji and Sakai, Michio and Ohtake, Masatoshi and Kobayashi, Ryoji and Iguchi, Akihiro and Niimi, Gen and Otsu, Makoto and Takahashi, Yoshiyuki and Miyano, Satoru and Saito, Hidehiko and Kojima, Seiji and Ogawa, Seishi
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 431 - 438
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cricetinae | Genetic Predisposition to Disease | Humans | Asian Continental Ancestry Group - genetics | Cytoskeleton - genetics | Male | Thrombocytopenia - blood | Thrombocytopenia - metabolism | Thrombocytopenia - genetics | Exome - genetics | Animals | Blood Platelets - metabolism | Pedigree | Actinin - genetics | Cytoskeleton - metabolism | Female | Mice | Mutation | Megakaryocytes - metabolism | Sequence Analysis, DNA - methods | CHO Cells | Thrombocytopenia | Usage | Gene mutations | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Medical colleges | Crosslinked polymers | Genetic disorders | Analysis | Genomics | Genetic research | Muscle proteins | Ovarian cancer | Proteins | Blood platelets | Rodents | Cytoskeleton | Blood diseases | Cells | Index Medicus | Transfection | Fetuses | Megakaryocytes | Platelets | Bleeding | Report
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6. Full Text Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
by Niihori, Tetsuya and Ouchi-Uchiyama, Meri and Sasahara, Yoji and Kaneko, Takashi and Hashii, Yoshiko and Irie, Masahiro and Sato, Atsushi and Saito-Nanjo, Yuka and Funayama, Ryo and Nagashima, Takeshi and Inoue, Shin-ichi and Nakayama, Keiko and Ozono, Keiichi and Kure, Shigeo and Matsubara, Yoichi and Imaizumi, Masue and Aoki, Yoko
American journal of human genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 848 - 854
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Synostosis - metabolism | Transcription Factor AP-1 - genetics | Humans | Child, Preschool | Molecular Sequence Data | Ulna - abnormalities | Male | Mutation, Missense | Synostosis - genetics | Transcription Factor AP-1 - metabolism | Exome | Thrombocytopenia - genetics | Proto-Oncogenes - genetics | Base Sequence | Bone Marrow - metabolism | Female | Transcription, Genetic | Radius - metabolism | Child | Protein Structure, Tertiary | Amino Acid Sequence | Signal Transduction | Gene Expression Regulation | Thrombocytopenia - congenital | Models, Molecular | Hematopoiesis - genetics | Radius - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Thrombocytopenia - metabolism | Animals | Transforming Growth Factor beta - genetics | Ulna - metabolism | Bone Marrow - abnormalities | MDS1 and EVI1 Complex Locus Protein | Transforming Growth Factor beta - metabolism | Musculoskeletal diseases | Genetic disorders | Gene mutations | Causes of | Blood clotting disorders | Genetic aspects | Health aspects | Bone marrow | Genetics | Chromatin | Gene loci | Mutation | Binding sites | Index Medicus | Report
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7. Full Text Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
by Albers, C.A and Paul, D.S and Schulze, H and Freson, K and Stephens, J.C and Smethurst, P.A and Jolley, J.D and Cvejic, A and Kostadima, M and Bertone, P and Breuning, M.H and Debili, N and Deloukas, P and Favier, R and Fiedler, J and Hobbs, C.M and Huang, N and Hurles, M.E and Kiddle, G and Krapels, I and Nurden, P and Ruivenkamp, C.A and Sambrook, J.G and Smith, K and Stemple, D.L and Strauss, G and Thys, C and van Geet, C and Newbury-Ecob, R and Ouwehand, W.H and Ghevaert, C
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 435 - 9, S1-2
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | RNA-Binding Proteins - genetics | Humans | Child, Preschool | Infant | Male | 5' Untranslated Regions - genetics | Genetic Variation | Thrombocytopenia - genetics | Young Adult | Base Sequence | Adult | Female | Child | Infant, Newborn | Amino Acid Sequence | Genetic Predisposition to Disease | Thrombocytopenia - congenital | Radius - abnormalities | Upper Extremity Deformities, Congenital - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Sequence Alignment | Animals | Platelet Count | Adolescent | Polymorphism, Single Nucleotide | Mutation | Physiological aspects | TAR syndrome | Research | Single nucleotide polymorphisms | RNA | Medical research | Genetics | Genes | Index Medicus
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8. Full Text JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
by Wang, Y Lynn and Zoi, Katerina and Pahl, Heike L and Cario, Holger and Reiter, Andreas and Jones, Amy V and Collins, Andrew and Grand, Francis and Silver, Richard T and Chase, Andrew and Cross, Nicholas C P and Oscier, David
Nature genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 446 - 449
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Predisposition to Disease - genetics | Humans | Janus Kinase 2 - genetics | Polycythemia Vera - enzymology | Genotype | Male | Polycythemia Vera - genetics | Hematologic Neoplasms - enzymology | Thrombocytopenia - genetics | Haplotypes - genetics | Homozygote | Thrombocytopenia - enzymology | Pedigree | Female | Heterozygote | Hematologic Neoplasms - genetics | Models, Genetic | Polymorphism, Single Nucleotide | Amino Acid Substitution | Gene mutations | Physiological aspects | Genetic aspects | Research | Protein kinases | Myeloproliferative disorders | Risk factors | Genotype & phenotype | Ratios | Hypotheses | Genetic disorders | Technological change | Expected values | Index Medicus
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9. Full Text Germline ETV6 mutations and predisposition to hematological malignancies
by Feurstein, Simone and Godley, Lucy A
International journal of hematology, ISSN 0925-5710, 8/2017, Volume 106, Issue 2, pp. 189 - 195
Thrombocytopenia | Medicine & Public Health | Hematology | Predisposition | Acute leukemia | Oncology | Germline | ETV6 | Life Sciences & Biomedicine | Science & Technology | Myeloid Cells - cytology | Genetic Predisposition to Disease - genetics | Genetic Testing | Genetic Association Studies | Proto-Oncogene Proteins c-ets - genetics | Proto-Oncogene Proteins c-ets - physiology | Humans | Repressor Proteins - genetics | Hematopoiesis - genetics | Germ-Line Mutation - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Repressor Proteins - physiology | Thrombocytopenia - genetics | Cell Differentiation - genetics | Myelodysplastic Syndromes - genetics | Genes, Dominant - genetics | Leukemia, Myeloid, Acute - genetics | Gene mutations | Leukemia | Genetic aspects | Acute lymphatic leukemia | Maturation | Myeloid leukemia | Disorders | Runx1 protein | Lymphatic leukemia | Patients | Myelodysplastic syndrome | Bleeding | Hemopoiesis | Hereditary diseases | Hematopoiesis | Children | Mutation | Differentiation | Acute myeloid leukemia | Index Medicus
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