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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
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
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
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
[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
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 causes of pituitary hormone deficiencies.
Larson A, Nokoff NJ, Meeks NJ.
Discov Med. 2015 Mar;19(104):175-83.
PMID:25828521
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.
Bonfig W, Krude H, Schmidt H.
Eur J Pediatr. 2011 Aug;170(8):1017-21. doi: 10.1007/s00431-011-1393-x. Epub 2011 Jan 20.
PMID:21249393
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