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Pediatric Endocrinology Reviews

Volumn 9, Issue SUPPL. 1, 2011, Pages 538-540

Diagnosis and management of disorders of IGF-1 synthesis and action

(1) Wit, J M a

a LEIDEN UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

GHR; Growth; Growth hormone; IGF1; IGF1R; IGFALS; Short stature; STAT5B

Indexed keywords

GROWTH HORMONE; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN C; STAT5 PROTEIN; SOMATOMEDIN C RECEPTOR;

CHILDHOOD DISEASE; CONFERENCE PAPER; ENDOCRINE GROWTH AND DEVELOPMENT DISORDERS; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HUMAN; INSULIN LIKE GROWTH FACTOR 1 DEFICIENCY; PROTEIN DEFICIENCY; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; BIOSYNTHESIS; CHILD; DRUG RESISTANCE; ENDOCRINE SYSTEM EXAMINATION; GENETICS; GROWTH DISORDER; LARON SYNDROME; METABOLISM; PHYSIOLOGY; REVIEW;

CHILD; DIAGNOSTIC TECHNIQUES, ENDOCRINE; DRUG RESISTANCE; GROWTH DISORDERS; HUMANS; INSULIN-LIKE GROWTH FACTOR I; LARON SYNDROME; RECEPTOR, IGF TYPE 1;

EID: 84859231018 PISSN: 15654753 EISSN: None Source Type: Journal
DOI: None Document Type: Conference Paper

Times cited : (5)

References (10)

1
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- Genetic evaluation of short stature
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- Wit, J.M.¹ Kiess, W.² Mullis, P.³

2
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- Evidence for a Continuum of Genetic, Phenotypic and Biochemical Abnormalities in Children with Growth Hormone Insensitivity
- in press
- David A, Hwa V, Metherell LA, Netchine I, Camacho-Hubner C, Clark AJ, Rosenfeld RG, Savage MO: Evidence for a Continuum of Genetic, Phenotypic and Biochemical Abnormalities in Children with Growth Hormone Insensitivity.Endocr Rev 2011;30:in press.
- (2011) Endocr Rev , vol.30
- David, A.¹ Hwa, V.² Metherell, L.A.³ Netchine, I.⁴ Camacho-Hubner, C.⁵ Clark, A.J.⁶ Rosenfeld, R.G.⁷ Savage, M.O.⁸

3
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- Genetics of GHRH, GHRH-receptor, GH and GH-receptor: Its impact on pharmacogenetics
- Mullis PE: Genetics of GHRH, GHRH-receptor, GH and GH-receptor: Its impact on pharmacogenetics. Best Pract Res Clin Endocrinol Metab 2011;25:25-41
- (2011) Best Pract Res Clin Endocrinol Metab , vol.25 , pp. 25-41
- Mullis, P.E.¹

4
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- STAT5b deficiency: Lessons from STAT5b gene mutations
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- (2011) Best Pract Res Clin Endocrinol Metab , vol.25 , pp. 61-75
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5
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- Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene
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- Van Duyvenvoorde, H.A.¹ Van Setten, P.A.² Walenkamp, M.J.³ Van, D.J.⁴ Koenig, J.⁵ Gauguin, L.⁶ Oostdijk, W.⁷ Ruivenkamp, C.A.⁸ Losekoot, M.⁹ Wade, J.D.¹⁰ De, M.P.¹¹ Karperien, M.¹² Noordam, C.¹³ Wit, J.M.¹⁴

6
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- IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
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7
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- Acid-labile subunit (ALS) deficiency
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8
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- Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: Results from the international acid-labile subunit consortium
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- Fofanova-Gambetti, O.V.¹ Hwa, V.² Wit, J.M.³ Domene, H.M.⁴ Argente, J.⁵ Bang, P.⁶ Hogler, W.⁷ Kirsch, S.⁸ Pihoker, C.⁹ Chiu, H.K.¹⁰ Cohen, L.¹¹ Jacobsen, C.¹² Jasper, H.G.¹³ Haeusler, G.¹⁴ Campos-Barros, A.¹⁵ Gallego-Gomez, E.¹⁶ Gracia-Bouthelier, R.¹⁷ Van Duyvenvoorde, H.A.¹⁸ Pozo, J.¹⁹ Rosenfeld, R.G.²⁰ more..

9
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- IGF1R mutations as cause of SGA
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- Klammt, J.¹ Kiess, W.² Pfaffle, R.³

10
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- Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype
- Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M: Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J Clin Endocrinol Metab 2009;94:4717-4727
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- Ester, W.A.¹ Van Duyvenvoorde, H.A.² De Wit, C.C.³ Broekman, A.J.⁴ Ruivenkamp, C.A.⁵ Govaerts, L.C.⁶ Wit, J.M.⁷ Hokken-Koelega, A.C.⁸ Losekoot, M.⁹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.