Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

Item
http://www.wikidata.org/entity/Q57263829
Cis- and trans-acting gene regulation is associated with osteoarthritisGene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.Genetics of isolated growth hormone deficiency.Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe)Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population.Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference.An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.A large-scale genome-wide linkage analysis to map loci linked to stature in Chinese population.Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes.X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.The curation of genetic variants: difficulties and possible solutions.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically.Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene.Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency.
P2860

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

Item
http://www.wikidata.org/entity/Q57263829
description
article
@en
im März 2003 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2003
@uk
name
Novel mutations of the growth ...... individuals with short stature
@en
Novel mutations of the growth hormone 1
@nl
type
label
Novel mutations of the growth ...... individuals with short stature
@en
Novel mutations of the growth hormone 1
@nl
prefLabel
Novel mutations of the growth ...... individuals with short stature
@en
Novel mutations of the growth hormone 1
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Novel mutations of the growth ...... individuals with short stature
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698