Holoprosencephaly-like phenotype: clinical and genetic perspectives.

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. Hum Mutat (2009) 1.32

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. Eur J Hum Genet (2010) 0.95

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev (2016) 0.80

Molecular analysis of holoprosencephaly in South America. Genet Mol Biol (2014) 0.75

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. Birth Defects Res A Clin Mol Teratol (2012) 0.75

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? Am J Med Genet A (2006) 0.96

Single median maxillary central incisor, hypophyseal tumor, and SHH mutation. Am J Med Genet A (2005) 0.91

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. Am J Med Genet A (2009) 0.90

Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases. Am J Med Genet A (2005) 0.89

[Phonological awareness, working memory, reading and writing performances in familial dyslexia]. Pro Fono (2008) 0.87

Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects. Am J Med Genet A (2005) 0.86

Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation. Am J Med Genet A (2005) 0.84

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil. Am J Med Genet C Semin Med Genet (2010) 0.83

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype. Am J Med Genet A (2006) 0.79

Variable phenotypic manifestations of a K44N mutation in the TGIF gene. Brain Dev (2007) 0.78

Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum? Cleft Palate Craniofac J (2006) 0.76

Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. Am J Med Genet A (2006) 0.75