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schinzel-giedion syndrome (71) 71
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genetics & heredity (38) 38
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schinzel–giedion syndrome (14) 14
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setbp1 (10) 10
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schinzel-giedion-syndrome (9) 9
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Clinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the... 
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2014, Volume 164, Issue 3, pp. 648 - 654
Journal Article
Journal Article
Journal of Genetics, ISSN 0022-1333, 03/2018, Volume 97, Issue 1, pp. 35 - 46
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as... 
mutation | diagnostic criteria | SETBP1 gene | Schinzel–Giedion syndrome | SACROCOCCYGEAL TERATOMA | PROGRESSIVE BRAIN ATROPHY | PHENOTYPE | SETBP1 MUTATIONS | DELINEATION | Schinzel-Giedion syndrome | WEST-SYNDROME | GENETICS & HEREDITY | PATIENT | OF-THE-LITERATURE | MIDFACE RETRACTION | NEURODEGENERATIVE PROCESS | Humans | Electroencephalography | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Craniofacial Abnormalities - diagnostic imaging | Point Mutation - genetics | DNA Mutational Analysis | Base Sequence | Female | Nuclear Proteins - genetics | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hand Deformities, Congenital - diagnostic imaging | Intellectual Disability - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Nails, Malformed - diagnostic imaging | Nails, Malformed - genetics | Carrier Proteins - genetics | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Heterozygote | Nails, Malformed - diagnosis | Medicine, Experimental | Medical colleges | Medical research | Kidney diseases | Diagnosis | Phenotypes | Typing | Language | Nose | Cortex | Central nervous system | Insertion | Heredity | Mutation | Hereditary diseases
Journal Article
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006683
textabstractSchinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and... 
ASXL1 | TRANSFORMATION | RECURRENT | ABNORMALITIES | DISTINCT | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | CANCER-RISK | CSF3R T618I | MYELODYSPLASTIC SYNDROME | CHRONIC MYELOID-LEUKEMIA | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Humans | Child, Preschool | Infant | Male | Gene Expression Profiling | Hematologic Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Cell Transformation, Neoplastic - genetics | HEK293 Cells | Hand Deformities, Congenital - metabolism | Germ-Line Mutation | Craniofacial Abnormalities - pathology | Female | Nuclear Proteins - genetics | Child | Craniofacial Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hematologic Neoplasms - metabolism | Infant, Newborn | Cell Line | Cell Proliferation - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Nails, Malformed - metabolism | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Blotting, Western | Nails, Malformed - genetics | Carrier Proteins - genetics | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Hematologic Neoplasms - genetics | Mutation | Hand Deformities, Congenital - pathology | Cell proliferation | Genetic aspects | Research | Gene mutations | Schinzel-Giedion syndrome | Leukemia | Health sciences | Pediatrics | Neurosciences | Laboratories | Hot spots | Genomics | Genomes | Malignancy | Clustering | Patients | Incidence | Children & youth | Medicine | Pathology | Hospitals | Language | Genetics | Life sciences | In vitro methods and tests | Cancer
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 8, pp. 369 - 371
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article