Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
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Title
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume 62, Issue 8, Pages 755-762
Publisher
Springer Nature
Online
2017-03-30
DOI
10.1038/jhg.2017.34
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Related references
Note: Only part of the references are listed.- Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort
- (2015) Francesca De Rienzo et al. CLINICAL ENDOCRINOLOGY
- Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
- (2015) Petra Dusatkova et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Novel Lethal Form of Congenital Hypopituitarism Associated With the First RecessiveLHX4Mutation
- (2015) L. C. Gregory et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion
- (2013) Arzu Akcay et al. European Journal of Medical Genetics
- High Prevalence ofPROP1Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency
- (2013) Ruta Navardauskaite et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3-A novel syndrome
- (2011) Galia Gat-Yablonski et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond
- (2011) Mark James McCabe et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency
- (2011) R. Pfäffle et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects
- (2011) Barbora Obermannova et al. Hormone Research in Paediatrics
- Entire prophet of Pit-1 (PROP-1) gene deletion in an Indian girl with combined pituitary hormone deficiencies
- (2011) Krishnaprasad Hemchand et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency
- (2010) Laura C.G. de Graaff et al. Hormone Research in Paediatrics
- A Large Deletion of PROP1 Gene in Patients with Combined Pituitary Hormone Deficiency from Two Unrelated Chinese Pedigrees
- (2010) Huiwen Zhang et al. Hormone Research in Paediatrics
- Genetic causes and treatment of isolated growth hormone deficiency—an update
- (2010) Kyriaki S. Alatzoglou et al. Nature Reviews Endocrinology
- Molecular analysis of novelPROP1mutations associated with combined pituitary hormone deficiency (CPHD)
- (2008) D. Kelberman et al. CLINICAL ENDOCRINOLOGY
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