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Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2012, Volume 287, Issue 37, pp. 31321 - 31329
Mutations in the SH3PXD2B gene coding for the Tks4 protein are responsible for the autosomal recessive Frank-ter Haar syndrome. Tks4, a substrate of Src... 
PX-DOMAIN | RAS ACTIVATION | CANCER-CELLS | INVADOPODIA | ACTIN | CORTACTIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | NUCLEOTIDE EXCHANGE FACTOR | RECEPTOR | ADAPTER PROTEIN | PODOSOME FORMATION | Receptor, Epidermal Growth Factor - genetics | Developmental Disabilities - metabolism | Humans | Cercopithecus aethiops | Developmental Disabilities - genetics | Phosphatidylinositol 3-Kinases - metabolism | Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Craniofacial Abnormalities - mortality | Heart Defects, Congenital - genetics | Receptor, Epidermal Growth Factor - metabolism | Osteochondrodysplasias - genetics | src-Family Kinases - metabolism | Chromones - pharmacology | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Developmental Disabilities - mortality | Protein Structure, Tertiary | Signal Transduction | Epidermal Growth Factor - genetics | Enzyme Inhibitors - pharmacology | Gene Silencing | Morpholines - pharmacology | Epidermal Growth Factor - metabolism | Phosphatidylinositol 3-Kinases - genetics | Animals | Osteochondrodysplasias - congenital | Osteochondrodysplasias - mortality | Adaptor Proteins, Signal Transducing - genetics | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - mortality | HeLa Cells | Mutation | Adaptor Proteins, Signal Transducing - metabolism | src-Family Kinases - genetics | COS Cells | Cell Movement | Osteochondrodysplasias - metabolism | Cell Migration | Src Tyrosine Kinase | Epidermal Growth Factor Receptor (EGFR) | PX Domain | Protein Phosphorylation | Nonreceptor Tyrosine Kinase | Cell Biology | Tks4
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 11/2011, Volume 38, Issue 5, pp. 553 - 558
Journal Article
Current Biology, ISSN 0960-9822, 10/2014, Volume 24, Issue 19, pp. 2327 - 2334
Majewski osteodysplastic primordial dwarfism type II (MOPDII) is caused by mutations in the centrosome gene ( ) that lead to severe pre- and postnatal growth... 
ORGANIZATION | PRIMORDIAL DWARFISM | CELL-DIVISION | CENTRIOLE | PATHWAY | MOTHER | BIOCHEMISTRY & MOLECULAR BIOLOGY | II MOPD-II | DISEASE | MITOTIC CENTROSOMES | GAMMA-TUBULIN | CELL BIOLOGY | Proteins | Heart | Neurosciences | Analysis | Mortality | pericentrin | mouse | cardiovascular defect | MOPDII | ninein | centrosome | primordial dwarfism | spindle orientation | centriolin | Cep215
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 2, pp. 612 - 614.e5
Clinical features of the 7 subjects with SAD included rhinosinusitis (n = 6), otitis media (n = 5), warts (n = 3), malignancies (n = 3; lymphoma, basal cell... 
Allergy and Immunology | ANTIBODIES | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNOLOGY | ALLERGY | DEFICIENCY | TRANSPLANTATION | Osteochondrodysplasias - immunology | Hair - abnormalities | Humans | Immunophenotyping | Osteochondrodysplasias - diagnosis | Hair - immunology | Immunity | Lymphocyte Subsets - immunology | Hirschsprung Disease - immunology | Hirschsprung Disease - diagnosis | Lymphocyte Subsets - metabolism | Phenotype | Osteochondrodysplasias - congenital | Finland | Biomarkers | Adult | Immunologic Memory | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Child | Cohort Studies | Transplants & implants | Laboratories | CD8 antigen | Immunoglobulin G | Chicken pox | Antibodies | Viruses | Transplantation | Lymphocytes T | Infections | Vaccines | Immunoglobulin A | Thymus | Cartilage | Genotype & phenotype | Uterus | Lymphocytes | Cell cycle | Varicella | Bone marrow | Children | Age | Hair | Hypoplasia | Immunoglobulins | CD19 antigen | Anemia | Mortality | Abnormalities | Neutrophils | Immunodeficiency | Leukocytes (neutrophilic) | CD3 antigen | Patients | Lymphoma | Hemopoiesis | CD4 antigen | Studies | Cartilage-hair hypoplasia | Stem cells | Otitis media | Adults | Mutation | Tetanus | immunoglobulin subclasses | humoral immunodeficiency | memory B cells | varicella | combined immunodeficiency | RMRP | specific antibody deficiency
Journal Article
Medizinische Klinik (Munich, Germany : 1983), ISSN 0723-5003, 03/2006, Volume 101, Issue 3, p. 208
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related,... 
Cerebral Infarction - immunology | Scoliosis - genetics | Humans | Cerebral Infarction - diagnosis | Male | Nephrotic Syndrome - genetics | Dwarfism - diagnosis | Osteochondrodysplasias - genetics | DNA Mutational Analysis | Immunologic Deficiency Syndromes - immunology | DNA Helicases - genetics | Nephrotic Syndrome - diagnosis | Dwarfism - immunology | Osteochondrodysplasias - immunology | Nephrotic Syndrome - mortality | Genotype | Glomerulosclerosis, Focal Segmental - diagnosis | Nephrotic Syndrome - immunology | Phenotype | Osteochondrodysplasias - mortality | Adolescent | T-Lymphocytes - immunology | Lymphopenia - immunology | Scoliosis - diagnosis | Prognosis | Age Factors | Glomerulosclerosis, Focal Segmental - genetics | Kyphosis - mortality | Cerebral Infarction - genetics | Cause of Death | Lymphopenia - mortality | Immunologic Deficiency Syndromes - mortality | Adult | Female | Immunologic Deficiency Syndromes - diagnosis | Kyphosis - immunology | Lymphopenia - diagnosis | Cerebral Infarction - mortality | Kyphosis - diagnosis | Osteochondrodysplasias - diagnosis | Genes, Recessive | Kyphosis - genetics | Dwarfism - mortality | Scoliosis - immunology | Scoliosis - mortality | Dwarfism - genetics | Glomerulosclerosis, Focal Segmental - mortality | Glomerulosclerosis, Focal Segmental - immunology | Chromosome Aberrations | Immunologic Deficiency Syndromes - genetics | Lymphopenia - genetics
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2017, Volume 12, Issue 8, p. e0180926
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to... 
NEPHROTIC SYNDROME | STEROID-RESISTANT | EXPRESSION | MULTIDISCIPLINARY SCIENCES | Immunologic Deficiency Syndromes - pathology | Osteochondrodysplasias - pathology | Genetic Testing | Kidney - pathology | Humans | Child, Preschool | Infant | Nephrotic Syndrome - genetics | Arteriosclerosis - genetics | Pulmonary Embolism - pathology | Young Adult | Osteochondrodysplasias - genetics | Adult | Immunologic Deficiency Syndromes - diagnosis | Child | DNA Helicases - genetics | Nephrotic Syndrome - diagnosis | Pulmonary Embolism - genetics | Nephrotic Syndrome - pathology | Genotype | Osteochondrodysplasias - diagnosis | Pulmonary Embolism - diagnosis | Phenotype | Arteriosclerosis - diagnosis | Adolescent | Immunologic Deficiency Syndromes - genetics | Mutation | Arteriosclerosis - pathology | Cohort Studies | Care and treatment | Dysplasia | Chronic kidney failure | Mortality | Analysis | Genetic aspects | Diagnosis | Risk factors | End-stage renal disease | Pediatrics | Nephrology | Hemodialysis | Bone surgery | Subgroups | Gene sequencing | Proteins | Consortia | Missense mutation | Ischemia | Genetics | Children | Age | Deoxyribonucleic acid--DNA | Hypertension | Congenital diseases | Complications | Septicemia | Nephrotic syndrome | Gene expression | Patients | Children & youth | Medicine | Hospitals | Nephropathy | Biopsy | University faculty | Kidney diseases | Binding sites | Proteinuria | Kidney transplantation | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Pediatrics International, ISSN 1328-8067, 08/2019, Volume 61, Issue 8, pp. 748 - 753
Background Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68-8.3 per 100 000 births, but statistical... 
epidemiology | thanatophoric dysplasia | survey | osteochondrodysplasia | newborn | GROWTH | SKELETAL DYSPLASIAS | PEDIATRICS | PRENATAL-DIAGNOSIS | Infants (Newborn) | Surveys | Medical research | Dysplasia | Prognosis | Genetic disorders | Patient outcomes | Medicine, Experimental | Infants | Epidemiology | Neonates | Orthopedics | Births | Skeletal system | Infant mortality | Management | Birth | Survival | Incidence
Journal Article
Journal Article