about
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyGLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palateHoloprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patientsClinical findings in patients with GLI2 mutations--phenotypic variability.Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohortHoloprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.[Phonological awareness, working memory, reading and writing performances in familial dyslexia].Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis.Holoprosencephaly-like phenotype: clinical and genetic perspectives.Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profilesTransmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrenceX monosomy and balanced Robertsonian translocation in a girl with Turner SyndromeSIX3 mutations with holoprosencephalyPTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRISingle maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotypeVariable phenotypic manifestations of a K44N mutation in the TGIF geneAtypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutationCerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous casesSingle median maxillary central incisor, hypophyseal tumor, and SHH mutationHoloprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defectsHoloprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genesExclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomaliesLanguage skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype
P50
Q27301044-13AFFDDC-21E3-4532-89C9-22319B7CDF24Q28273397-ED7C45BF-BB5E-41CB-8A96-FA3D8F255DA2Q28277730-3D8D8B08-628A-4716-95A9-7121C5237321Q28286312-E2B3CC12-97E4-4FAD-B42D-CC012A69E198Q35103234-432D0C51-CB5D-480E-AA7C-DEAEA12E58D4Q36409537-2285607C-5FEF-4CA1-8B34-4DCCCB8AD819Q37682173-7BAD27B7-D5CF-4BB7-BB99-C1245C88B32BQ39729555-CC66891E-8243-4497-91D5-F0FE305CCB30Q40262534-7ACD89F9-CE41-4F7F-8A75-D28F654E8BD0Q46034684-166B192C-0788-4062-85E7-A4D3CD9A65F7Q46804638-CDBDBAFB-A1EB-4EA2-9F01-7C1F84D47B80Q50463197-D44BCBB2-1915-42FF-A6B7-7397DCF81144Q51497629-E0DF6C07-4694-43BF-9BD9-E6138F256172Q52006156-94FF1C19-E646-4BE5-93B8-66C4C01620B0Q57350077-5F508064-D084-4FC0-8FE1-28D4FFCEACD4Q57978093-EA702C37-CC2D-4121-AADB-6F9917474BE3Q57978097-8D369399-245A-40FC-B7DF-EA340ADD336FQ79139149-5CB229A2-49F0-410E-AA24-4AD8C44C257FQ79139154-7440CB98-82A5-4D46-AAA8-90A3544BB144Q79139158-02BF9FBA-2C21-4413-B16C-A2735F4FB1DFQ81158670-323AB9FF-B612-4FE7-A37D-46E5E8219091Q81825008-D038F626-4911-412F-BAFB-1B8046D84085Q81825012-1498849F-A27E-48C5-B8B6-8705FD3CC94CQ81825034-A8DB8090-7563-4DF9-AFA7-0ADB245877ADQ81878094-3211F397-1C18-41FC-A8AC-D317FE823858Q83848825-86144B14-B506-4B2D-9434-44A294D7822FQ83866019-00457449-7FD4-4EA1-B7C5-EF256039BCFAQ83921772-7849D706-1CEA-48E1-8A4A-473722599C0D
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Lucilene Arilho Ribeiro
@en
Lucilene Arilho Ribeiro
@nl
type
label
Lucilene Arilho Ribeiro
@en
Lucilene Arilho Ribeiro
@nl
prefLabel
Lucilene Arilho Ribeiro
@en
Lucilene Arilho Ribeiro
@nl
P31
P496
0000-0002-3716-336X