Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory

Congenital Anomalies

Volumn 55, Issue 3, 2015, Pages 167-169

  Takenouchi, Toshiki ^a   Awazu, Midori ^a   Eggermann, Thomas ^b   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Adult onset diseases; Developmental origins of health and disease; Epigenetics; Insulin like growth factor 2; Russell silver syndrome

Indexed keywords

CREATININE; GROWTH HORMONE; SOMATOMEDIN B; H19 LONG NON-CODING RNA; IGF2 PROTEIN, HUMAN; LONG UNTRANSLATED RNA;

ADULT; ARTICLE; BODY MASS; BREECH PRESENTATION; CASE REPORT; CHROMOSOME 11P; CREATININE BLOOD LEVEL; DIABETES MELLITUS; EPIGENETICS; FOCAL GLOMERULOSCLEROSIS; GENE; H19 GENE; HEAD CIRCUMFERENCE; HEMATURIA; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; HYPERTENSION; ICR1 GENE; IGF2 GENE; KIDNEY BIOPSY; MALE; MICROALBUMINURIA; MOLECULAR GENETICS; NEWBORN; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; PROTEINURIA; PULMONARY HYPERTENSION; SHORT STATURE; SILVER RUSSELL SYNDROME; WOLFF PARKINSON WHITE SYNDROME; CHROMOSOME 11; COMPLICATION; DNA METHYLATION; GENE EXPRESSION REGULATION; GENETICS; MUTATION; ONSET AGE; PATHOLOGY; YOUNG ADULT;

ADULT; AGE OF ONSET; CHROMOSOMES, HUMAN, PAIR 11; DIABETES MELLITUS; DNA METHYLATION; GENE EXPRESSION REGULATION; HUMANS; HYPERTENSION; INFANT, NEWBORN; INSULIN-LIKE GROWTH FACTOR II; MALE; MUTATION; OBESITY; PHENOTYPE; RNA, LONG NONCODING; SILVER-RUSSELL SYNDROME; YOUNG ADULT;

EID: 84937832076     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/cga.12105     Document Type: Article

References (6)

1. Barker DJ, Winter PD, Osmond C, Margetts B, Simmonds SJ. 1989. Weight in infancy and death from ischaemic heart disease. Lancet 2:577-580.
2. Brenner BM, Garcia DL, Anderson S. 1988. Glomeruli and blood pressure. Less of one, more the other. Am J Hypertens 1:335-347.
3. Eggermann T, Schonherr N, Eggermann K etal. 2008. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet 73:79-84.
4. Gicquel C, Rossignol S, Cabrol S etal. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37:1003-1007.
5. Gluckman PD, Hanson MA, Cooper C, Thornburg KL. 2008. Effect of in utero and early-life conditions on adult health and disease. N Engl J Med 359:61-73.
6. Yoshihashi H, Maeyama K, Kosaki R etal. 2000. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet 67:476-482.