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Journal Article
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 559 - 564
Costello syndrome (CS) entails a cancer predisposition and is caused by activating HRAS mutations, typically arising de novo in the paternal germline.... 
mutation | imprinting | p.Q22K | Beckwith–Wiedemann syndrome | Costello syndrome | neonatal hyperinsulinemic hypoglycemia | 11p15.5 | loss of heterozygosity | HRAS | Beckwith-Wiedemann syndrome | HRAS mutation | Neonatal hyperinsulinemic hypoglycemia | Imprinting | Loss of heterozygosity | P.Q22K | DEFECTS | ABNORMALITIES | GENOTYPE | HRAS(G12V) | HRAS MUTATION ANALYSIS | ORIGIN | PHENOTYPE CORRELATION | GENETICS & HEREDITY | GERMLINE MUTATIONS | RHABDOMYOSARCOMA | PATHWAY SYNDROME | Uniparental Disomy - diagnosis | Genomic Imprinting | Proto-Oncogene Proteins p21(ras) - genetics | Costello Syndrome - diagnosis | Humans | Beckwith-Wiedemann Syndrome - diagnosis | Molecular Sequence Data | Infant | Male | Hypoglycemia - pathology | Loss of Heterozygosity | Beckwith-Wiedemann Syndrome - genetics | Inheritance Patterns | Congenital Hyperinsulinism - genetics | Congenital Hyperinsulinism - pathology | Insulin-Like Growth Factor II - genetics | Base Sequence | Fatal Outcome | Clone Cells | Hypoglycemia - diagnosis | Hypoglycemia - genetics | Costello Syndrome - pathology | Congenital Hyperinsulinism - diagnosis | Chromosomes, Human, Pair 11 - chemistry | Pancreas - pathology | Pancreas - metabolism | Costello Syndrome - genetics | Uniparental Disomy - genetics | Beckwith-Wiedemann Syndrome - pathology | Uniparental Disomy - pathology | Amino Acid Substitution | Infants (Newborn) | Immunohistochemistry
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2013, Volume 161, Issue 10, pp. 2420 - 2430
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 08/2019, Volume 200, Issue 3, pp. 393 - 396
Clinical and Demographic Data All (N = 35) Off Therapy (n = 16) On Therapy (n = 11) Relapse/Reinfection (n = 8) P Value Sex, M 17 (49%) 8 (50%) 4 (36%) 5 (63%)... 
IDENTIFICATION | RESPIRATORY SYSTEM | FEATURES | CRITICAL CARE MEDICINE | Pathogens | Antibiotics | Laboratories | Taxonomy | Lung diseases | Cystic fibrosis | Genomes | Chronic obstructive pulmonary disease | Patients
Journal Article
Journal Article
Journal Article