Partial growth-hormone insensitivity: The role of growth-hormone receptor mutations in idiopathic stature

Journal of Pediatrics

Volumn 131, Issue 1 II SUPPL., 1997, Pages

  Goddard, A D ^a   Dowd, P ^a   Chernausek, S ^a   Geffner, M ^a   Gertner, J ^a   Hintz, R ^a   Hopwood, N ^a   Kaplan, S ^a   Plotnick, L ^a   Rogol, A ^a   Rosenfield, R ^a   Saenger, P ^a   Mauras, N ^a   Hershkopf, R ^a   Angulo, M ^a   Attie, K ^a  

^a GENENTECH INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C;

CHILD; CLINICAL TRIAL; CONFERENCE PAPER; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA POLYMORPHISM; DRUG EFFICACY; DRUG SAFETY; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HORMONE RESISTANCE; HUMAN; HUMAN CELL; LARON SYNDROME; MAJOR CLINICAL STUDY; PHASE 2 CLINICAL TRIAL; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030659549     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0022-3476(97)70012-x     Document Type: Conference Paper

References (13)

1. RW Pfaffle JS Parks MR Brown G Heimann Pit-1 and pituitary function J Pediatr Endocrinol 6 1993 229 233
2. MP Wajnrajch JM Gertner MD Harbison SCJ Chua RL Leibel Nonsense mutation in the human growth hormone–releasing hormone receptor causes growth failure analogous to the little ( lit ) mouse Nature Genetics 12 1996 88 90
3. LA Perez-Jurado J Argente Molecular basis of familial growth hormone deficiency Horm Res 42 1994 189 197
4. RG Rosenfeld AL Rosenbloom J Guevara-Aguirre Growth hormone (GH) insensitivity due to primary GH receptor deficiency Endocr Rev 15 1994 369 390
5. KA Woods C Camacho-Hubner MO Savage AJL Clark Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene N Engl J Med 335 1996 1363 1367
6. LMS Carlsson KM Attie PG Compton RV Vitangcol TJ Merimee National Cooperative Growth Study Reduced concentration of serum growth hormone–binding protein in children with idiopathic short stature J Clin Endocrinol Metab 78 1994 1325 1330
7. KM Attie LMS Carlsson AC Rundle BM Sherman Evidence for partial growth hormone insensitivity among patients with idiopathic short stature J Pediatr 127 1995 244 250
8. NJ Hopwood RL Hintz JM Gertner Growth response of children with non-growth-hormone deficiency and marked short stature during three years of growth hormone therapy J Pediatr 123 1993 215 222
9. AD Goddard R Covello S-M Luoh Mutations of the growth hormone receptor in children with idiopathic short stature N Engl J Med 333 1995 1093 1098
10. BZ Katz N Raab-Traub G Miller Latent and replicating forms of Epstein-Barr virus DNA in lymphomas and lymphoproliferative diseases J Infect Dis 160 1989 589 598
11. M Orita Y Suzuki T Sekiya K Hayashi Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction Genomics 5 1989 874 879
12. JW Baumgartner CA Wells CM Chen MJ Waters The role of the WSXWS equivalent motif in growth hormone receptor function J Biol Chem 269 1994 29094 29101
13. S Amselem P Duquesnoy B Duriez Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome Hum Mol Genet 2 1993 355 359