Title: Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development.
Record: NETCHINE, Iréne - AZZI, Salah - HOUANG, Muriel - SEURIN, Danielle - PERIN, Laurence - RICORT, Jean-Marc - DAUBAS, Claudine - LEGAY, Christine - MEŠTER, Ján - HERICH, Róbert - GODEAU, François - LE BOUC, Yves. Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development. In: Journal of Clinical Endocrinology and Metabolism. 2009. ISSN 0021-972X, Vol. 94, č. 10 (2009), s. 3913-3921.
(2009: 6.202 - IF, 343 - H-index, 6.460 - IF 5y, 3.225 - SJR, Q1 - SJR Best Q, Q1 - JCR Best Q)
Year: 2009
Category: ADC - Scientific papers in foreign journals
Authors:NETCHINE Iréne0 %
AZZI Salah0 %
HOUANG Muriel0 %
SEURIN Danielle0 %
PERIN Laurence0 %
RICORT Jean-Marc0 %
DAUBAS Claudine0 %
LEGAY Christine0 %
MEŠTER Ján0 %
HERICH Róbert0 %
GODEAU François0 %
LE BOUC Yves0 %
Edition: Journal of Clinical Endocrinology and Metabolism
Vol. 94, č. 10 (2009), s. 3913-3921
Country of issue: Slovakia
ISSN:0021-972X
Research area: neuvedená
Scientometrics: 2009: 6.202 - IF, 343 - H-index, 6.460 - IF 5y, 3.225 - SJR, Q1 - SJR Best Q, Q1 - JCR Best Q
Language: english
Citations:
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2012: [1] CALIEBE, Janina - BROEKMAN, Sander - BOOGAARD, Merel - BOSCH, Cathy A. J. - RUIVENKAMP, Claudia A. L. - OOSTDIJK, Wilma - KANT, S. G. - BINDER, Gerhard - RANKE, Michael B. - WIT, Jan M. - LOSEKOOT, Monique. IGF1, IGF1R and SHOX Mutation Analysis in Short Children Born Small for Gestational Age and Short Children with Normal Birth Size (Idiopathic Short Stature). In HORMONE RESEARCH IN PAEDIATRICS, 2012, vol.77, no.4, 250. [WoS]
2012: [1] FANG, Peng - CHO, Yoon Hi - DERR, Michael A. - ROSENFELD, Ron G. - HWA, Vivian - COWELL, Christopher T. Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R). In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, vol.97, no.2, e243-E247. [WoS]
2012: [1] FUQUA, John S. - DERR, Michael - ROSENFELD, Ron G. - HWA, Vivian. Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature. In HORMONE RESEARCH IN PAEDIATRICS, 2012, vol.78, no.1, 59. [WoS]
2012: [1] HOOPES, Barbara C. - RIMBAULT, Maud - LIEBERS, David - OSTRANDER, Elaine A. - SUTTER, Nathan B. The insulin-like growth factor 1 receptor (IGF1R) contributes to reduced size in dogs. In MAMMALIAN GENOME, 2012, vol.23, no.11-12, 780. [WoS]
2012: [1] KREMER, Valerie - GIRARD, Francoise - GASSER, Bernard - MARCELLIN, Luc - CHRISTMANN, Dominique - NISAND, Israel - SCHMITT, Evelyne - FLORENT, Sylvie - FLORI, Elisabeth. Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus. In EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, vol.55, no.4, 269. [WoS]
2012: [1] MUL, D. - WU, S. - DE PAUS, R. A. - OOSTDIJK, W. - LANKESTER, A. C. - VAN DUYVENVOORDE, H. A. - RUIVENKAMP, C. A. L. - LOSEKOOT, M. - VAN TOL, M. J. D. - DE LUCA, F. - VAN DE VOSSE, E. - WIT, J. M. A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-kappa B activation. In EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2012, vol.166, no.4, 743-752. [WoS]
2012: [1] OKUSKY, John - YE, Ping. Neurodevelopmental effects of insulin-like growth factor signaling. In FRONTIERS IN NEUROENDOCRINOLOGY, 2012, vol.33, no.3, 230. [WoS]
2012: [1] RAJAPAKSHA, Harinda - ALVINO, Clair - MCCARTHY, Peter - FORBES, Briony E. The insulin-like growth factor mutation database (IGFmdb). In GROWTH HORMONE & IGF RESEARCH, 2012, vol.22, no.5, 158. [WoS]
2012: [1] SPARKMAN, Amanda M. - SCHWARTZ, Tonia S. - MADDEN, Jill A. - BOYKEN, Scott E. - FORD, Neil B. - SERB, Jeanne M. - BRONIKOWSKI, Anne M. Rates of molecular evolution vary in vertebrates for insulin-like growth factor-1 (IGF-1), a pleiotropic locus that regulates life history traits. In GENERAL AND COMPARATIVE ENDOCRINOLOGY, 2012, vol.178, no.1, 164. [WoS]
2011: [1] CHOI, Jin-Ho - KANG, Minji - KIM, Gu-Hwan - HONG, Maria - JIN, Hye Young - LEE, Beom-Hee - PARK, Jung-Young - LEE, Se-Min - SEO, Eul-Ju - YOO, Han-Wook. Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2-> qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, vol.96, no.1, e130-E134. [WoS]
2011: [1] DERR, Michael A. - FANG, Peng - SINHA, Sunil K. - TEN, Svetlana - HWA, Vivian - ROSENFELD, Ron G. A Novel Y332C Missense Mutation in the Intracellular Domain of The Human Growth Hormone Receptor Does Not Alter STAT5b Signaling: Redundancy of GHR Intracellular Tyrosines Involved in STAT5b Signaling. In HORMONE RESEARCH IN PAEDIATRICS, 2011, vol.75, no.3, 187-199. [WoS]
2011: [1] HWA, Vivian - NADEAU, Kari - WIT, Jan M. - ROSENFELD, Ron G. STAT5b deficiency: Lessons from STAT5b gene mutations. In BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, vol.25, no.1, 61-75. [WoS]
2011: [1] KLAMMT, J. - KIESS, W. - PFAEFFLE, R. IGF1R mutations as cause of SGA. In BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, vol.25, no.1, 191-206. [WoS]
2011: [1] LEAL, Andrea de Castro - MACHADO CANTON, Ana Pinheiro - MONTENEGRO, Luciana Ribeiro - COUTINHO, Debora Cabral - PRADO ARNHOLD, Ivo Jorge - DE LIMA JORGE, Alexander Augusto. Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation. In ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2011, vol.55, no.8, 541-549. [WoS]
2011: [1] MENSSEN, Adriane - HAEUPL, Thomas - SITTINGER, Michael - DELORME, Bruno - CHARBORD, Pierre - RINGE, Jochen. Differential gene expression profiling of human bone marrow-derived mesenchymal stem cells during adipogenic development. In BMC GENOMICS, 2011, vol.12, no.. [WoS]
2011: [1] RYDZANICZ, Malgorzata - NOWAK, Dorota M. - KAROLAK, Justyna A. - FRAJDENBERG, Agata - PODFIGURNA-MUSIELAK, Monika - MRUGACZ, Malgorzata - GAJECKA, Marzena. IGF-1 gene polymorphisms in Polish families with high-grade myopia. In MOLECULAR VISION, 2011, vol.17, no.264-65, 2428-2439. [WoS]
2011: [1] VAN DUYVENVOORDE, H. A. - VAN DOORN, J. - KOENIG, J. - GAUGUIN, L. - OOSTDIJK, W. - WADE, J. D. - KARPERIEN, M. - RUIVENKAMP, C. A. L. - LOSEKOOT, M. - VAN SETTEN, P. A. - WALENKAMP, M. J. E. - NOORDAM, C. - DE MEYTS, P. - WIT, J. M. The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein. In GROWTH HORMONE & IGF RESEARCH, 2011, vol.21, no.1, 44-50. [WoS]
2011: [1] WIT, J. M. - KIESS, W. - MULLIS, P. Genetic evaluation of short stature. In BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, vol.25, no.1, 1-17. [WoS]
2011: [1] WIT, Jan M. - CAMACHO-HUBNER, Cecilia. Endocrine Regulation of Longitudinal Bone Growth. In CARTILAGE AND BONE DEVELOPMENT AND ITS DISORDERS, 2011, vol.21, no., 30-41. [WoS]
2010: [1] AISENBERG, Javier - AUYEUNG, Valerie - PEDRO, Helio F. - SUGALSKI, Rachel - CHARTOFF, Amy - ROTHENBERG, Rachel - DERR, Michael A. - HWA, Vivian - ROSENFELD, Ron G. Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain. In HORMONE RESEARCH IN PAEDIATRICS, 2010, vol.74, no.6, 406-411. [WoS]
2010: [1] BACKELJAUW, P. - BANG, P. - DUNGER, D. B. - JUUL, A. - LE BOUC, Y. - ROSENFELD, R. Insulin-like Growth Factor-I in Growth and Metabolism. In JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2010, vol.23, no.1-2, 3-16. [WoS]
2010: [1] FORBES, Karen - WESTWOOD, Melissa. Maternal growth factor regulation of human placental development and fetal growth. In JOURNAL OF ENDOCRINOLOGY, 2010, vol.207, no.1, 1-16. [WoS]
2010: [1] SAVAGE, Martin O. - BURREN, Christine P. - ROSENFELD, Ron G. The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges. In CLINICAL ENDOCRINOLOGY, 2010, vol.72, no.6, 721-728. [WoS]
2010: [1] SHISHKIN, S.S. - LISITSKAYA, K.V. - KRAKHMALEVA, I.N. Biochemical polymorphism of the growth hormone system proteins and its manifestations in human prostate cells. In Biochemistry (Moscow), 2010, vol.75, no.13, 1547-1562. [Scopus]
2010: [1] VAN DUYVENVOORDE, H. A. - VAN SETTEN, P. A. - WALENKAMP, M. J. E. - VAN DOORN, J. - KOENIG, J. - GAUGUIN, L. - OOSTDIJK, W. - RUIVENKAMP, C. A. L. - LOSEKOOT, M. - WADE, J. D. - DE MEYTS, P. - KARPERIEN, M. - NOORDAM, C. - WIT, J. M. Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene. In JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, vol.95, no.11, e363-E367. [WoS]
2010: [1] VENKATASUBRAMANIAN, Ganesan - CHITTIPROL, Seetharamaiah - NEELAKANTACHAR, Narendran - SHETTY, Taranath - GANGADHAR, Bangalore N. Effect of antipsychotic treatment on Insulin-like Growth Factor-1 and cortisol in schizophrenia: A longitudinal study. In SCHIZOPHRENIA RESEARCH, 2010, vol.119, no.1-3, 131-137. [WoS]
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