| scholarly article | Q13442814 |
| P356 | DOI | 10.1111/CEN.12565 |
| P698 | PubMed publication ID | 25056824 |
| P50 | author | Sonir R Antonini | Q56872470 |
| Margaret de Castro | Q56872472 | ||
| Guilherme S Nakiri | Q61184524 | ||
| P2093 | author name string | Ayrton C Moreira | |
| Carlos E Martinelli | |||
| Fernanda Borchers Coeli-Lacchini | |||
| Antônio C Santos | |||
| Wendy Turatti | |||
| Fábio L Fernandes-Rosa | |||
| Sabrina Soares Paulo | |||
| P2860 | cites work | Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. | Q44996972 |
| Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. | Q48100245 | ||
| Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes | Q48132138 | ||
| The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly | Q52173272 | ||
| A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 | Q82623030 | ||
| Medical sequencing of candidate genes for nonsyndromic cleft lip and palate | Q21563465 | ||
| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 | ||
| Multistep signaling requirements for pituitary organogenesis in vivo | Q24602006 | ||
| Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 | ||
| Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development | Q28251735 | ||
| Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function | Q28291924 | ||
| Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain | Q28609824 | ||
| Holoprosencephaly | Q31097430 | ||
| Hypopituitarism oddities: congenital causes | Q31141847 | ||
| Genetic regulation of pituitary gland development in human and mouse | Q33590141 | ||
| Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency | Q33619862 | ||
| Analysis of genotype-phenotype correlations in human holoprosencephaly | Q33625707 | ||
| The molecular basis for developmental disorders of the pituitary gland in man. | Q33942188 | ||
| 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 | ||
| Germ line mosaicism | Q34469179 | ||
| Genetics of septo-optic dysplasia | Q34640923 | ||
| Gli2 Acetylation at Lysine 757 Regulates Hedgehog-Dependent Transcriptional Output by Preventing Its Promoter Occupancy | Q34770115 | ||
| Clinical findings in patients with GLI2 mutations--phenotypic variability. | Q35103234 | ||
| Holoprosencephaly: clinical, anatomic, and molecular dimensions | Q36604059 | ||
| Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency | Q36663060 | ||
| Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways | Q36719098 | ||
| Pathways of signal transduction employed by vertebrate Hedgehogs | Q36785862 | ||
| Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features | Q37089385 | ||
| The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis | Q37411003 | ||
| Copy number variation and mosaicism. | Q37415202 | ||
| Hedgehog signalling: emerging evidence for non-canonical pathways | Q37462651 | ||
| Genetic forms of hypopituitarism and their manifestation in the neonatal period | Q37599119 | ||
| Novel mutations associated with combined pituitary hormone deficiency | Q37859159 | ||
| Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation | Q39750898 | ||
| Functional characterization of sonic hedgehog mutations associated with holoprosencephaly | Q40528928 | ||
| Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly | Q41925556 | ||
| Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly | Q43536332 | ||
| P433 | issue | 4 | |
| P304 | page(s) | 562-569 | |
| P577 | publication date | 2014-09-22 | |
| P1433 | published in | Clinical Endocrinology | Q15762781 |
| P1476 | title | Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects | |
| P478 | volume | 82 |
| Q61798480 | A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling |
| Q38797075 | Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. |
| Q34546986 | Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia |
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