1 | ALSD, IGFALS
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| Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
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| Fofanova-Gambetti OV, Hwa V, Kirsch S, Pihoker C, Chiu HK, Högler W, Cohen LE, Jacobsen C, Derr MA, Rosenfeld RG.
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| Horm Res 71(2):100-10. Epub 2009 Jan 8.PMID: 19129715 2009
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2 | ALSD, IGFALS
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| Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
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| Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group.
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| Horm Res 72(3):129-41. Epub 2009 Sep 1. Review.PMID: 19729943 2009
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3 | ALSD, IGFALS
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| Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.
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| van Duyvenvoorde HA, Kempers MJ, Twickler TB, van Doorn J, Gerver WJ, Noordam C, Losekoot M, Karperien M, Wit JM, Hermus AR.
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| Eur J Endocrinol 159(2):113-20. Epub 2008 May 7.PMID: 18463107 2008
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4 | IGFALS, IGF1R, IGFBP3, IGF1
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| Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study.
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| Deming SL, Ren Z, Wen W, Shu XO, Cai Q, Gao YT, Zheng W.
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| Breast Cancer Res Treat 104(3):309-19. Epub 2006 Oct 25. 2007
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5 | ALSD, IGFALS
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| Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
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| Domené HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarrás P, Gutiérrez M, Jasper HG.
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| J Clin Endocrinol Metab 92(11):4444-50. Epub 2007 Aug 28.PMID: 17726072 2007
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6 | IGFALS
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| Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
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| Domene HM, Bengolea SV, Martinez AS, Ropelato MG, Pennisi P, Scaglia P, Heinrich JJ, Jasper HG.
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| N Engl J Med 350(6):570-7. No abstract available. 2004
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7 | IGFALS
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| The role of the acid-labile subunit in regulating insulin-like growth factor transport across human umbilical vein endothelial cell monolayers.
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| Payet LD, Firth SM, Baxter RC.
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| J Clin Endocrinol Metab 89(5):2382-9.PMID: 15126567 2004
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8 | IGFALS
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| The acid-labile subunit of human ternary insulin-like growth factor-binding protein complex in girls with central precocious puberty before and during gonadotropin-releasing hormone analog therapy.
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| Cisternino M, Draghi M, Lauriola S, Scarcella D, Bernasconi S, Cavallo L, De Luca F, Lomeo A, Tato L.
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| J Clin Endocrinol Metab 87(10):4629-33. 2002
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9 | ATR16, CRAMP1L, DDX11L1, DECR2, GNG13, HAGHL, HBAP1, HBM, HN1L, HS3ST6, IFT140, IGFALS, ITFG3, JMJD8, LMF1, LUC7L, MEIOB, MRPL28, MSLNL, NARFL, POLR3K, RAB40C, RHBDL1, RPL23AP5, RPS20P2, RPS3AP2, RPUSD1, SEPX1, SPSB3, TJP1P, TMEM8, TPSB2, TPSD1, TPSG1, TPSP1, TPSP3, UNKL, WFIKKN1, ZSIG37P
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| Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
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| Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR.
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| Hum Mol Genet 10(4):339-52. 2001
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10 | IGFALS
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| Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly.
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| Sneppen SB, Lange M, Pedersen LM, Kristensen L LO, Main KM, Juul A, Skakkebaek NE, Feldt-Rasmussen U.
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| Growth Horm IGF Res 11(6):384-91. 2001
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