Maria Leine Guion-Almeida

Summary

Country: Brazil

Publications

  1. ncbi request reprint Auriculo-condylar syndrome: additional patients
    Maria 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
  2. ncbi request reprint Cerebro-oculo-nasal syndrome: 13 new Brazilian cases
    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 143:3252-66. 2007
  3. ncbi request reprint 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
  4. doi request reprint Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients
    Maria 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
  5. ncbi request reprint Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient
    Maria Leine Guion-Almeida
    Genetica Clinica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo USP, Bauru, Brazil
    Clin Dysmorphol 12:233-6. 2003
  6. doi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. ncbi request reprint A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    Maria 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
  10. doi request reprint 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
    Roseli 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

Collaborators

  • Antonio Richieri-Costa
  • Maria Rita Passos-Bueno
  • Siulan Vendramini-Pittoli
  • Josiane Souza
  • Cibele Masotti
  • Renato da Silva Freitas
  • Roseli Maria Zechi-Ceide
  • Nancy Mizue Kokitsu-Nakata
  • Elaine Sbroggio de Oliveira Rodini
  • Luis Fernando B B Antunes
  • Siulan Vendramini
  • Salmo Raskin
  • Fernanda Sarquis Jehee
  • Ligiane Alves Machado-Paula
  • Francine Pinheiro Favaro
  • Nélio Alessando Jesus Oliveira
  • Vera Lúcia Gil da Silva Lopes
  • Vera Lucia Gil da Silva Lopes
  • Priscila Padilha Moura
  • Vanessa Luiza Romanelli Tavares
  • Melina Guerreiro Rodrigues
  • Camila Wenceslau Alvarez
  • Luciana P Maximino
  • Katia Rocha
  • Lucilene Arilho Ribeiro
  • Claudia Danielli Pereira Bertolacini
  • Luís Fernando Benedito Bérgamo Antunes
  • Sthella Zanchetta
  • Nélio Alessandro Jesus Oliveira
  • Silvyo David Araújo Giffoni

Detail Information

Publications38

  1. ncbi request reprint Auriculo-condylar syndrome: additional patients
    Maria 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...
  2. ncbi request reprint Cerebro-oculo-nasal syndrome: 13 new Brazilian cases
    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 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...
  3. ncbi request reprint 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...
  4. doi request reprint Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients
    Maria 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...
  5. ncbi request reprint Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient
    Maria 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...
  6. doi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint 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...
  9. ncbi request reprint A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    Maria 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...
  10. doi request reprint 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
    Roseli 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
    ....
  11. doi request reprint Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
    Maria 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...
  12. ncbi request reprint Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union
    Roseli 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...
  13. ncbi request reprint 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
    Siulan 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...
  14. doi request reprint Auriculo-condylar syndrome. Confronting a diagnostic challenge
    Nancy Mizue Kokitsu-Nakata
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo HRCA USP, Bauru, SP, Brazil
    Am J Med Genet A 158:59-65. 2012
    ..1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed...
  15. doi request reprint Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
    Roseli 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...
  16. ncbi request reprint Pai syndrome: report of seven South American patients
    Maria 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...
  17. doi request reprint Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
    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 149:1277-9. 2009
    ..This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed...
  18. ncbi request reprint Clinical genetic study of 144 patients with nonsyndromic hearing loss
    Nancy 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...
  19. doi request reprint Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
    Roseli Maria Zechi-Ceide
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Sao Paulo, Brazil
    Clin Dysmorphol 17:225-6. 2008
  20. doi request reprint 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...
  21. ncbi request reprint 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
  22. ncbi request reprint Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder
    Maria 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...
  23. doi request reprint 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 recessi
    Roseli Maria Zechi-Ceide
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of Sao Paulo HRAC USP, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 161:2088-94. 2013
    ..The distinct phenotype of our cases reinforces the hypothesis that other factors may be influencing the phenotype as previously suggested...
  24. ncbi request reprint Teebi hypertelorism syndrome: additional cases
    Ligiane Alves Machado-Paula
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, 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...
  25. doi request reprint Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis
    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 152:2039-42. 2010
    ..Clinical and imaging data, phenotypic evolution, and differential diagnosis are discussed...
  26. doi request reprint Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases
    Francine 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...
  27. doi request reprint Nonsyndromic alar clefts: report of five Brazilian patients
    Antonio 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...
  28. ncbi request reprint Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
    Roseli 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...
  29. doi request reprint 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients
    Nancy 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
    ..The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome...
  30. doi request reprint Terminal osseous dysplasia and pigmentary defects in a Brazilian girl
    Nancy Mizue Kokitsu-Nakata
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 146:2698-700. 2008
  31. ncbi request reprint Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity
    Cibele 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...
  32. pmc Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
    Maria 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...
  33. ncbi request reprint Acrofrontofacionasal dysostosis: report of the third Brazilian family
    Maria Leine Guion-Almeida
    Am J Med Genet A 119:238-41. 2003
  34. ncbi request reprint Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs
    Vera 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...
  35. ncbi request reprint Aural atresia and microtia in Kabuki syndrome
    Nancy Mizue Kokitsu-Nakata
    Am J Med Genet A 118:391-3. 2003
  36. ncbi request reprint Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional case
    Maria Leine Guion-Almeida
    Am J Med Genet A 117:83-4. 2003
  37. ncbi request reprint Unusual nasal duplication in two patients
    Maria Leine Guion-Almeida
    Am J Med Genet A 130:435-6. 2004
  38. ncbi request reprint Atypical facial clefting in a patient with Goltz syndrome
    Elaine Sbroggio de Oliveira Rodini
    Am J Med Genet A 140:1616. 2006