Diagnosis of Laron syndrome

Laron Syndrome - From Man to Mouse: Lessons from Clinical and Experimental Experience

Volumn , Issue , 2011, Pages 27-28

  Laron, Zvi ^a  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876254691     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-11183-9_4     Document Type: Chapter

References (10)

1. Daughaday WH, Laron Z, Pertzelan A, Heins JN (1969) Defective sulfation factor generation: A possible etiological link in dwarfism. Trans Assoc Am Physicians lxxxii:129-138
2. David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA (2007) An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J Clin Endocrinol Metab 92:655-659
3. Laron Z, Pertzelan A, Karp M, Kowadlo-Silbergeld A, Daughaday WH (1971) Administration of growth hormone to patients with familial dwarfism with high plasma immunoreactive growth hormone. Measurement of sulfation factor, metabolic, and linear growth responses. J Clin Endocrinol Metab 33:332-342
4. Laron Z, Klinger B, Blum WF, Silbergeld A, Ranke MB (1992a) IGF binding protein 3 in patients with LTD: Effect of exogenous rIGF-I. Clin Endocrinol 36:301-304
5. Laron Z, Suikkari AM, Klinger B, Silbergeld A, Pertzelan A, Seppala M, Koivisto VA (1992b) Growth hormone and insulin-Like growth factor regulate insulin-Like growth factor binding protein in Laron type dwarfism, growth hormone deficiency and constitutional growth retardation. Acta Endocrinol 127: 351-358
6. Laron Z, Bidlingmaier M, Strasburger CJ (2007) Indications, limitations and pitfalls in the determination of human growth hormone, IGF-I and their binding proteins. Pediatr Endocrinol Rev 5(suppl):555-569
7. Shevah O, Laron Z (2006) Genetic analysis of the pedigrees and molecular defects of the GH-receptor gene in the Israeli cohort of patients with Laron syndrome. Pediatr Endocrinol Rev 3(SUPPL3):489-497
8. Shevah O, Rubinstein M, Laron Z (2004a) Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron Syndrome patients in Israel: Relationship between defects and ethnic groups. Isr Med Assoc J 6: 630-633
9. Shevah O, Galli-Tsinopoulou A, Rubinstein M, Nousia-Arvanitakis S, Laron Z (2004b) Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene. J Pediat Endocrinol Metab 17:371-374
10. Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z (1997) Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: Extended phenotypic study in a very large pedigree. J Pediatr Endocrinol Metab 10:265-274