Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations

Human Molecular Genetics

Volumn 15, Issue 15, 2006, Pages 2363-2375

  Haumaitre, Cécile ^a   Fabre, Mélanie ^a   Cormier, Sarah ^b   Baumann, Clarisse ^b   Delezoide, Anne Lise ^b   Cereghini, Silvia ^a  

^a CNRS   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; FIBROCYSTIN; GLUCOSE TRANSPORTER 2; HEPATOCYTE NUCLEAR FACTOR 1BETA; POLYCYSTIN 1; POLYCYSTIN 2; TAMM HORSFALL GLYCOPROTEIN; UVOMORULIN; WNT PROTEIN;

ARTICLE; CASE REPORT; CELL ADHESION; CELL MATURATION; DIABETES MELLITUS; DISEASE SEVERITY; DOWN REGULATION; EXOCRINE GLAND; EXON; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE DOSAGE; GENETIC ANALYSIS; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPLASIA; IMMUNOHISTOCHEMISTRY; KIDNEY DYSPLASIA; KIDNEY HYPERTROPHY; KIDNEY POLYCYSTIC DISEASE; MALE; MATURITY ONSET DIABETES MELLITUS OF THE YOUNG SUBTYPE 5; MESONEPHROS; PANCREAS DISEASE; PANCREAS HYPOPLASIA; PANCREAS ISLET CELL FUNCTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION;

ABORTED FETUS; ADULT; DIABETES MELLITUS, TYPE 2; EPITHELIUM; FEMALE; FETAL DISEASES; FRAMESHIFT MUTATION; GENE DOSAGE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; IMMUNOHISTOCHEMISTRY; KIDNEY; MALE; MULTICYSTIC DYSPLASTIC KIDNEY; PANCREAS; PREGNANCY;

EID: 33747882568     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl161     Document Type: Article

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