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Genomes and GenesSpecies | Maria Leine Guion-AlmeidaSummaryCountry: Brazil Publications
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Publications
Auriculo-condylar syndrome: additional patientsMaria Leine Guion-Almeida
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
Am J Med Genet 112:209-14. 2002..Variation in the severity of the abnormalities was observed. We discuss the findings in our patients in relation to those in the literature...
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?Maria Leine Guion-Almeida
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 149:2762-4. 2009..To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance...- Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patientsMaria Leine Guion-Almeida
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 149:1006-11. 2009..We suggest that this pattern found exclusively in males, most likely represents a newly recognized syndrome distilled from the group of disorders subsumed under frontonasal dysplasia... - Cerebro-oculo-nasal syndrome: 13 new Brazilian casesMaria Leine Guion-Almeida
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 143:3252-66. 2007..Despite marked variability among cases, the nasal configuration appears to be unique and diagnostic. Although one patient had a mutation in the PTCH gene, the cause of all other cases remains unknown to date... - Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?Maria Leine Guion-Almeida
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
Am J Med Genet A 140:2478-81. 2006..Clinical, imaging data, as well as differential diagnosis are discussed... - Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?Maria Leine Guion-Almeida
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 129:156-61. 2004..We suggest that these patients represent different conditions within the spectrum of the heminasal aplasia malformation. Clinical, genetic, and differential diagnosis are discussed... - Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patientMaria Leine Guion-Almeida
Genetica Clinica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo USP, Bauru, Brazil
Clin Dysmorphol 12:233-6. 2003..Clinical correlations among these features are discussed... - Blepharocheilodontic (BCD) syndrome: expanding the phenotype?Vera Lucia Gil da Silva Lopes
Departamento de Genética Médica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, Sao Paulo, Brazil
Am J Med Genet A 121:266-70. 2003..The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed... - A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palateMaria Leine Guion-Almeida
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo USP, SP, Bauru, Brazil
Clin Dysmorphol 15:171-4. 2006..We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown... - Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous unionRoseli Maria Zechi Ceide
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
Am J Med Genet A 143:3295-301. 2007..The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance... - Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literatureSiulan Vendramini
Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
Eur J Hum Genet 15:411-21. 2007..We postulate that radial defects associated with OAVS might represent a subset within this spectrum... - Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletionMaria Leine Guion-Almeida
Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 158:1676-9. 2012..Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype... - Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7Roseli Maria Zechi-Ceide
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo HRCA USP, Bauru, SP, Brazil
Am J Med Genet A 158:1680-5. 2012..31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype... - 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 diagnosisRoseli Maria Zechi-Ceide
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Rua Silvio Marchione 3 20, CEP 17012 900, Bauru, SP, Brazil
Eur J Med Genet 51:183-96. 2008.... - Pai syndrome: report of seven South American patientsMaria Leine Guion Almeida
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 143:3273-9. 2007..2) in one instance... - Clinical genetic study of 144 patients with nonsyndromic hearing lossNancy Mizue Kokitsu-Nakata
Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
Am J Audiol 13:99-103. 2004..A clinical genetic study was performed on a sample of 144 patients with nonsyndromic hearing loss, establishing the sex distribution, type, degree, symmetry, laterality, progression, etiology, and, when possible, inheritance pattern... - Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genesRoseli Maria Zechi-Ceide
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 149:1277-9. 2009..This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed... - Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 geneRoseli Maria Zechi-Ceide
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC, , , Brazil
Clin Dysmorphol 17:225-6. 2008 - Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?Roseli Maria Zechi-Ceide
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 152:1838-40. 2010..2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome... - Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?Antonio Richieri-Costa
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Clin Dysmorphol 17:149-50. 2008 - Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorderMaria Leine Guion-Almeida
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
Clin Dysmorphol 17:41-6. 2008..1999) and Ribeiro et al. (2005), thus confirming the existence of this rare condition. All cases are isolated and the etiology remains unknown... - Teebi hypertelorism syndrome: additional casesLigiane Alves Machado-Paula
Clinical Genetics, , , Bauru, SP, Brazil
Am J Med Genet A 117:181-3. 2003..Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed... - Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesisMaria Leine Guion-Almeida
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 152:2039-42. 2010..Clinical and imaging data, phenotypic evolution, and differential diagnosis are discussed... - Nonsyndromic alar clefts: report of five Brazilian patientsAntonio Richieri-Costa
Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
Am J Med Genet A 149:2765-7. 2009..To date all reported cases of nonsyndromic alar clefts have been sporadic. Here we report on five new cases of isolated and nonsyndromic alar clefts... - 22q11 deletion syndrome and limb anomalies: report on two Brazilian patientsNancy Mizue Kokitsu-Nakata
Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
Cleft Palate Craniofac J 45:561-6. 2008.... - Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian casesFrancine Pinheiro Favaro
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of Sao Paulo HRAC USP, Bauru, SP, Brazil
Am J Med Genet A 155:322-31. 2011..With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown... - Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutationRoseli Maria Zechi-Ceide
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, USP, Sao Paulo, SP, Brazil
Clin Dysmorphol 16:163-6. 2007..960G>C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C>G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed... - Terminal osseous dysplasia and pigmentary defects in a Brazilian girlNancy Mizue Kokitsu-Nakata
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, , Bauru, , Brazil
Am J Med Genet A 146:2698-700. 2008 
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patientsMaria Leine Guion-Almeida
Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
Clin Ophthalmol 1:183-7. 2007..Clinical manifestations presented by these patients represent a MCA/MR syndrome of unknown etiology. Considerations about syndromic delineation, genetic aspects, and differential diagnosis are discussed...- Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneityCibele Masotti
Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil
Eur J Hum Genet 16:145-52. 2008..Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype... - Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional caseMaria Leine Guion-Almeida
Am J Med Genet A 117:83-4. 2003 - Aural atresia and microtia in Kabuki syndromeNancy Mizue Kokitsu-Nakata
Am J Med Genet A 118:391-3. 2003 - Acrofrontofacionasal dysostosis: report of the third Brazilian familyMaria Leine Guion-Almeida
Am J Med Genet A 119:238-41. 2003 - Unusual nasal duplication in two patientsMaria Leine Guion-Almeida
Am J Med Genet A 130:435-6. 2004 - Frontonasal dysplasia, neuronal migration error and lymphoedema of limbsVera Lúcia Gil da Silva Lopes
Clin Dysmorphol 13:35-7. 2004..Frontal and nasal haemangiomas, optic disc anomalies and hearing loss were also observed. This seems to be a previously undescribed syndrome of unknown aetiology... - Atypical facial clefting in a patient with Goltz syndromeElaine Sbroggio de Oliveira Rodini
Am J Med Genet A 140:1616. 2006