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European Journal of Cancer, ISSN 0959-8049, 2013, Volume 50, Issue 5, pp. 987 - 996
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. S4 - S4
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of cafe-au-lait macules, hyperfunctioning... 
G-ALPHA-S | MEDICINE, RESEARCH & EXPERIMENTAL | PRIMARY HYPERPARATHYROIDISM | SOMATOSTATIN ANALOG | GROWTH-HORMONE EXCESS | ADENYLYL-CYCLASE | GENETICS & HEREDITY | TERM-FOLLOW-UP | OSTEOSARCOMA | PATIENT | STIMULATORY G-PROTEIN | BONE | Aromatase Inhibitors - pharmacology | Fibrous Dysplasia, Polyostotic - drug therapy | Hyperthyroidism - diagnosis | Humans | Cushing Syndrome - diagnosis | Fibrous Dysplasia of Bone - drug therapy | Cafe-au-Lait Spots - diagnosis | Puberty, Precocious - drug therapy | Cafe-au-Lait Spots - complications | Hypophosphatemia - complications | Fibrous Dysplasia, Polyostotic - genetics | GTP-Binding Protein alpha Subunits, Gs - genetics | Acromegaly - complications | Chromogranins | Fibrous Dysplasia, Polyostotic - complications | Acromegaly - genetics | Cushing Syndrome - drug therapy | Fibrous Dysplasia of Bone - genetics | Fibrous Dysplasia, Polyostotic - diagnosis | Cafe-au-Lait Spots - genetics | Hypophosphatemia - diagnosis | Cushing Syndrome - genetics | Hyperthyroidism - drug therapy | Acromegaly - diagnosis | Fibrous Dysplasia of Bone - diagnosis | Acromegaly - drug therapy | Cafe-au-Lait Spots - drug therapy | Puberty, Precocious - diagnosis | Hyperthyroidism - genetics | Hyperthyroidism - complications | Physical Examination | Fibrous Dysplasia of Bone - complications | Puberty, Precocious - complications | Hypophosphatemia - drug therapy | Mutation | Cohort Studies | Studies | Disease | Meetings | Thyroid diseases | Clinical trials | Growth hormones | Clinical medicine | Manuscripts | Bars
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 12 - 12
Journal Article
European Journal of Cancer, ISSN 0959-8049, 2015, Volume 51, Issue 8, pp. 977 - 983
Journal Article
Journal Article
Oncogene, ISSN 0950-9232, 01/2015, Volume 34, Issue 5, pp. 631 - 638
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius... 
childhood leukaemia | neurofibromatosis type 1 | tumour suppressor gene | SPRED1 | café-au-lait spots | Legius syndrome | cafe-au-lait spots | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | ACUTE MYELOID-LEUKEMIA | CANCER | CELL BIOLOGY | SIGNAL-TRANSDUCTION | ONCOLOGY | ACUTE LYMPHOBLASTIC-LEUKEMIA | GENES | DISEASE | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - pathology | Humans | Gene Expression Regulation, Neoplastic | Child, Preschool | Infant | Male | Leukemia, Myeloid, Acute - complications | Cafe-au-Lait Spots - complications | Loss of Heterozygosity - genetics | Female | Child | Genes, Tumor Suppressor | Intracellular Signaling Peptides and Proteins - genetics | Cafe-au-Lait Spots - pathology | Infant, Newborn | Genes, ras - genetics | Cafe-au-Lait Spots - genetics | Leukemia, Myeloid, Acute - pathology | Membrane Proteins - genetics | Intracellular Signaling Peptides and Proteins - biosynthesis | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Membrane Proteins - biosynthesis | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - complications | Adolescent | Mutation | Neurofibromin 1 - genetics | Leukemia, Myeloid, Acute - genetics | Gene mutations | Leukemia in children | Neurofibromatosis | Development and progression | Tumor suppressor genes | Genetic aspects | Research | Health aspects | Risk factors | Studies | Proteins | Genotype & phenotype | Ribonucleic acid--RNA | Leukemia | Tumors
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2016, Volume 291, Issue 7, pp. 3124 - 3134
Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple... 
negative regulation | human genetics | GAP-RELATED DOMAIN | MUTATIONAL SPECTRUM | signal transduction | TYROSINE KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | mitogen-activated protein kinase (MAPK) | PHENOTYPE | Ras protein | SPROUTY-RELATED PROTEIN | IDENTIFICATION | NF1 GENE | protein domain | GTPase-activating protein (GAP) | RASOPATHIES | MOLECULAR PATHOLOGY | GROWTH | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Cafe-au-Lait Spots - metabolism | Male | Neurofibromatosis 1 - physiopathology | Intracellular Signaling Peptides and Proteins - metabolism | Mutation, Missense | Recombinant Fusion Proteins - metabolism | MAP Kinase Signaling System | HEK293 Cells | Female | Neurofibromatosis 1 - metabolism | Membrane Proteins - metabolism | Protein Interaction Domains and Motifs | Neurofibromatosis 1 - genetics | Neurofibromin 1 - chemistry | Neurofibromin 1 - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Peptide Fragments - genetics | Proto-Oncogene Proteins p21(ras) - agonists | Genes, Reporter | Proto-Oncogene Proteins p21(ras) - metabolism | Cafe-au-Lait Spots - genetics | Peptide Fragments - metabolism | Genetic Association Studies | Membrane Proteins - genetics | Models, Molecular | Epidermal Growth Factor - metabolism | Cafe-au-Lait Spots - physiopathology | Recombinant Fusion Proteins - chemistry | Amino Acid Transport System A | Point Mutation | Peptide Fragments - chemistry | Membrane Proteins - chemistry | Intracellular Signaling Peptides and Proteins - chemistry | Proto-Oncogene Proteins p21(ras) - antagonists & inhibitors | Protein Conformation | Kinetics | Neurofibromin 1 - genetics | Index Medicus | Molecular Bases of Disease
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 03/2016, Volume 63, Issue 3, pp. 418 - 427
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2017, Volume 91, Issue 4, pp. 507 - 519
Constitutional mismatch repair ( MMR ) deficiency ( CMMRD ) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline... 
acute myeloid leukaemia | neurofibromatosis type 1 | childhood cancer | constitutional mismatch repair deficiency | high‐grade glioma | café‐au‐lait spot | rhabdomyosarcoma | germline mutation | mismatch repair gene | high-grade glioma | café-au-lait spot | COMPOUND-HETEROZYGOUS MUTATIONS | LYNCH-SYNDROME | HEMATOLOGICAL MALIGNANCY | GLIOBLASTOMA-MULTIFORME | MICROSATELLITE INSTABILITY | cafe-au-lait spot | EUROPEAN CONSORTIUM CARE | GENETICS & HEREDITY | EARLY-ONSET | GERMLINE MUTATIONS | BIALLELIC PMS2 MUTATIONS | AU-LAIT SPOTS | Neoplastic Syndromes, Hereditary - pathology | Glioma - diagnosis | Neurofibromatosis 1 - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Child, Preschool | Rhabdomyosarcoma - pathology | DNA Mismatch Repair - genetics | Cafe-au-Lait Spots - diagnosis | Colorectal Neoplasms - diagnosis | Glioma - genetics | Neoplastic Syndromes, Hereditary - epidemiology | Glioma - pathology | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - genetics | Neurofibromatosis 1 - genetics | Colorectal Neoplasms - epidemiology | Cafe-au-Lait Spots - genetics | Diagnosis, Differential | Rhabdomyosarcoma - diagnosis | Leukemia, Myeloid, Acute - pathology | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Neurofibromatosis 1 - diagnosis | Cafe-au-Lait Spots - physiopathology | Neurofibromatosis 1 - pathology | Phenotype | Leukemia, Myeloid, Acute - diagnosis | Rhabdomyosarcoma - genetics | Colorectal Neoplasms - pathology | Brain Neoplasms - epidemiology | Leukemia, Myeloid, Acute - genetics | Medical research | Gene mutations | Gliomas | Neurofibromatosis | Leukemia | Medicine, Experimental | Disease susceptibility | Pediatrics | Genotype & phenotype | Medical diagnosis | Cancer
Journal Article
JAMA: The Journal of the American Medical Association, ISSN 0098-7484, 11/2009, Volume 302, Issue 19, pp. 2111 - 2118
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2016, Volume 11, Issue 1, p. 113
Journal Article