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multiple pituitary hormones deficiency, genotype相关文献:
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
Öztürk AP, Yavas Abali Z, Aslanger AD, Bas F, Toksoy G, Karaman V, Bagirova G, Poyrazoglu S, Uyguner ZO, Darendeliler F.
Horm Res Paediatr. 2024;97(2):126-133. doi: 10.1159/000531113. Epub 2023 Jun 14.
PMID:37315542
Combined pituitary hormone deficiency: current and future status.
Castinetti F, Reynaud R, Quentien MH, Jullien N, Marquant E, Rochette C, Herman JP, Saveanu A, Barlier A, Enjalbert A, Brue T.
J Endocrinol Invest. 2015 Jan;38(1):1-12. doi: 10.1007/s40618-014-0141-2. Epub 2014 Sep 9.
PMID:25200994
Genetic causes of pituitary hormone deficiencies.
Larson A, Nokoff NJ, Meeks NJ.
Discov Med. 2015 Mar;19(104):175-83.
PMID:25828521
Endocrinology of growth.
Rosenfeld RG.
Nestle Nutr Workshop Ser Pediatr Program. 2010;65:225-34; discussion 234-7. doi: 10.1159/000281170. Epub 2010 Feb 1.
PMID:20139685
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
Flemming GM, Klammt J, Ambler G, Bao Y, Blum WF, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle RW.
J Clin Endocrinol Metab. 2013 Mar;98(3):E567-75. doi: 10.1210/jc.2012-3224. Epub 2013 Feb 13.
PMID:23408573
Genetics of isolated growth hormone deficiency.
Mullis PE.
J Clin Res Pediatr Endocrinol. 2010;2(2):52-62. doi: 10.4274/jcrpe.v2i2.52. Epub 2010 May 1.
PMID:21274339
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency.
Aykut A, Ozen S, Sımsek DG, Onay H, Cogulu O, Darcan S, Ozkinay F.
J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):171-4. doi: 10.1515/jpem-2013-0208.
PMID:24025721
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z.
Orv Hetil. 2011 Feb 6;152(6):221-32. doi: 10.1556/OH.2011.29032.
PMID:21278027
Pit-1 and pituitary function.
Pfäffle RW, Parks JS, Brown MR, Heimann G.
J Pediatr Endocrinol. 1993 Jul-Dec;6(3-4):229-33. doi: 10.1515/jpem.1993.6.3-4.229.
PMID:7920987
[Congenital hypopituitarism: when should transcription factor gene screenings be performed?].
Reynaud R, Barlier A, Chadli-Chaieb M, Saveanu A, Simonin G, Enjalbert A, Brue T.
Presse Med. 2004 Mar 27;33(6):400-5. doi: 10.1016/s0755-4982(04)98607-1.
PMID:15105786
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