Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

Palate morphogenesis: current understanding and future directions. Birth Defects Res C Embryo Today (2010) 0.94

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

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities. Am J Med Genet A (2007) 1.39

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature. Eur J Hum Genet (2007) 1.09

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients. Am J Med Genet A (2010) 1.00

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

Waardenburg syndrome: clinical differentiation between types I and II. Am J Med Genet A (2003) 0.96

SIX3 mutations with holoprosencephaly. Am J Med Genet A (2006) 0.94

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

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. Am J Med Genet A (2006) 0.90

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

Oral cleft prevention program (OCPP). BMC Pediatr (2012) 0.89

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? Am J Med Genet A (2009) 0.88

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. Am J Med Genet A (2005) 0.88

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet (2011) 0.86

High dosage folic acid supplementation, oral cleft recurrence and fetal growth. Int J Environ Res Public Health (2013) 0.86

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

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients. Clin Ophthalmol (2007) 0.83

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study. Cleft Palate Craniofac J (2004) 0.83

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients. Cleft Palate Craniofac J (2008) 0.82

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis. Eur J Med Genet (2008) 0.81

Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. Am J Med Genet A (2009) 0.81

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. Clin Dysmorphol (2008) 0.81

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

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. Am J Med Genet A (2012) 0.79

Craniofacial morphology in patients with velocardiofacial syndrome. Cleft Palate Craniofac J (2010) 0.79

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. Am J Med Genet A (2010) 0.78

Birth defects in newborns and stillborns: an example of the Brazilian reality. BMC Res Notes (2011) 0.78

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis. Am J Med Genet A (2010) 0.76

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. Am J Med Genet A (2007) 0.76

A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis. Clin Dysmorphol (2011) 0.75

Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly. PLoS One (2012) 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

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases. Am J Med Genet A (2007) 0.75

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2008) 0.75

Auditory findings and electrophysiologics in individuals with G/BBB syndrome. Braz J Otorhinolaryngol (2011) 0.75

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases. Clin Dysmorphol (2015) 0.75

Reply to Hunter's letter on the "misuse of the descriptor "Marfanoid"". Am J Med Genet A (2008) 0.75

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies. Am J Med Genet A (2012) 0.75

Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome? Clin Dysmorphol (2005) 0.75

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. Am J Med Genet A (2012) 0.75

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. Am J Med Genet A (2013) 0.75

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family. Cleft Palate Craniofac J (2010) 0.75

Severe midline craniofacial anomalies: overlap with Pai syndrome. Clin Dysmorphol (2009) 0.75

Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles. Am J Med Genet A (2006) 0.75

[Aging and human communication]. Pro Fono (2009) 0.75

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. Clin Dysmorphol (2008) 0.75

Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia. Am J Med Genet A (2005) 0.75

Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. Clin Dysmorphol (2010) 0.75

Clinical genetic study of 144 patients with nonsyndromic hearing loss. Am J Audiol (2004) 0.75

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles. Braz J Otorhinolaryngol (2011) 0.75

Dental anomalies in Richieri-Costa-Pereira syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol (2012) 0.75

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? Am J Med Genet A (2004) 0.75