| scholarly article | Q13442814 |
| P50 | author | Alexandre Z Daly | Q88605916 |
| Sally A. Camper | Q40082925 | ||
| Juan P. Bustamante | Q44624047 | ||
| P2093 | author name string | Adriana Seilicovich | |
| Amanda H Mortensen | |||
| Marcelo A Marti | |||
| Jacob O Kitzman | |||
| Ignacio Bergadá | |||
| Débora Braslavsky | |||
| Ana C Keselman | |||
| Sebastian A Vishnopolska | |||
| Rosemary M Lemons | |||
| María I Pérez Millán | |||
| P2860 | cites work | Detection of growth hormone gene defects by dideoxy fingerprinting (ddF) | Q73342256 |
| MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations | Q73409499 | ||
| Panhypopituitarism: genetic versus acquired etiological factors | Q79813007 | ||
| High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency | Q80385487 | ||
| Mutations in PROP1 cause familial combined pituitary hormone deficiency | Q24308762 | ||
| Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse | Q24311677 | ||
| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 | ||
| Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis | Q24599714 | ||
| A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency | Q24658065 | ||
| Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature | Q28084491 | ||
| Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor | Q28118169 | ||
| Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD | Q28118827 | ||
| Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene | Q28139138 | ||
| Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion | Q28141280 | ||
| "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency | Q28143870 | ||
| Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging | Q28188314 | ||
| Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene | Q28207803 | ||
| A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency | Q28257108 | ||
| Patterns and rates of exonic de novo mutations in autism spectrum disorders | Q28264242 | ||
| The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency | Q28283073 | ||
| Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C) | Q28285096 | ||
| Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene | Q28295261 | ||
| Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development | Q28505275 | ||
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans | Q28586560 | ||
| ClinVar: public archive of interpretations of clinically relevant variants | Q28603051 | ||
| Genomic Insights into the Ancestry and Demographic History of South America | Q29037184 | ||
| Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm | Q29547194 | ||
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
| Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls | Q30758000 | ||
| Massively parallel exon capture and library-free resequencing across 16 genomes | Q30860233 | ||
| From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline | Q30872351 | ||
| Role of GLI2 in hypopituitarism phenotype | Q30933565 | ||
| The ExAC browser: displaying reference data information from over 60 000 exomes | Q31145461 | ||
| Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. | Q32088577 | ||
| Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene | Q33855538 | ||
| Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. | Q34119879 | ||
| Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism | Q34430600 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes | Q35171517 | ||
| Candidate genes for panhypopituitarism identified by gene expression profiling | Q35553223 | ||
| Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function | Q35652559 | ||
| Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations | Q35659075 | ||
| Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift | Q35831126 | ||
| Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia | Q35869509 | ||
| BRCA Testing by Single-Molecule Molecular Inversion Probes | Q36224125 | ||
| Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency | Q36663060 | ||
| Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation | Q36800445 | ||
| Deletion of OTX2 in neural ectoderm delays anterior pituitary development | Q36807457 | ||
| PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells | Q37083255 | ||
| Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism | Q37086359 | ||
| De novo genic mutations among a Chinese autism spectrum disorder cohort. | Q37408616 | ||
| Genetic causes and treatment of isolated growth hormone deficiency—an update | Q37790266 | ||
| Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics | Q37852199 | ||
| Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. | Q38543146 | ||
| Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. | Q38797075 | ||
| Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements | Q39014780 | ||
| 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 | Q39883314 | ||
| Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice. | Q40675986 | ||
| Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion | Q40786389 | ||
| Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency | Q40804588 | ||
| Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene | Q41714031 | ||
| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases | Q42175057 | ||
| Predicting functional effect of human missense mutations using PolyPhen-2. | Q42406410 | ||
| Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. | Q42489512 | ||
| 17alpha-hydroxyprogesterone and cortisol serum levels in neonates and young children: influence of age, gestational age, gender and methodological procedures | Q43078564 | ||
| Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation | Q43732452 | ||
| Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II | Q44421288 | ||
| The serum growth hormone (GH) response to provocative tests is dependent on type of assay in autosomal dominant isolated GH deficiency because of an ARG(183)HIS (R183H) GH-I gene mutation | Q44453072 | ||
| Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism | Q44505357 | ||
| Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor | Q44542896 | ||
| PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis | Q45096678 | ||
| Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. | Q46326232 | ||
| OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. | Q46482864 | ||
| Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. | Q46520911 | ||
| Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency | Q46971717 | ||
| Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates | Q47868967 | ||
| Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency | Q47956819 | ||
| Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. | Q48100245 | ||
| Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation | Q48259119 | ||
| PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency | Q48418100 | ||
| Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). | Q48849523 | ||
| The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation | Q48851157 | ||
| OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary | Q48881868 | ||
| High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency | Q48901276 | ||
| Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study | Q49112874 | ||
| Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. | Q49115420 | ||
| Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. | Q50889374 | ||
| Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. | Q51850327 | ||
| Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. | Q51895527 | ||
| Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. | Q51931445 | ||
| Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. | Q51968780 | ||
| Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage. | Q52149612 | ||
| Mouse Otx2 functions in the formation and patterning of rostral head. | Q52205211 | ||
| MutationTaster2: mutation prediction for the deep-sequencing age. | Q52877992 | ||
| Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency. | Q53102368 | ||
| Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. | Q53254800 | ||
| Genetic defects in the control of growth hormone secretion. | Q54140871 | ||
| Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. | Q54646297 | ||
| P577 | publication date | 2018-05-08 | |
| P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
| P1476 | title | Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism |
| Q98902343 | Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing |
| Q64075908 | Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR |
| Q91802218 | High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma |
| Q100560187 | Inherited causes of clonal haematopoiesis in 97,691 whole genomes |
| Q90540512 | Pituitary Transcription Factor Mutations Leading to Hypopituitarism |
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