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Results: 1-12 |
Results: 12
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype
Authors: Guion-Almeida, ML Richieri-Costa, A
Citation: Ml. Guion-almeida et A. Richieri-costa, Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype, CLIN DYSMOR, 10(2), 2001, pp. 81-86
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Authors: Suzuki, K Hu, D Bustos, T Zlotogora, J Richieri-Costa, A Helms, JA Spritz, RA
Citation: K. Suzuki et al., Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia, NAT GENET, 25(4), 2000, pp. 427-430
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
Authors: Gripp, KW Wotton, D Edwards, MC Roessler, E Ades, L Meinecke, P Richieri-Costa, A Zackai, EH Massague, J Muenke, M Elledge, SJ
Citation: Kw. Gripp et al., Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination, NAT GENET, 25(2), 2000, pp. 205-208
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
Authors: Splendore, A Silva, EO Alonso, LG Richieri-Costa, A Alonso, N Rosa, A Carakushanky, G Cavalcanti, DP Brunoni, D Passos-Bueno, MR
Citation: A. Splendore et al., High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes, HUM MUTAT, 16(4), 2000, pp. 315-322
Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases
Authors: Guion-Almeida, ML Kokitsu-Nakata, NM Richieri-Costa, A
Citation: Ml. Guion-almeida et al., Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases, CLIN DYSMOR, 9(4), 2000, pp. 253-257
Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome
Authors: Guion-Almeida, ML Zechi-Ceide, RM Richieri-Costa, A
Citation: Ml. Guion-almeida et al., Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome, CLIN DYSMOR, 9(4), 2000, pp. 269-272
Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome
Authors: Guion-Almeida, ML Richieri-Costa, A
Citation: Ml. Guion-almeida et A. Richieri-costa, Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome, CLIN DYSMOR, 9(4), 2000, pp. 297-299
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: Report on a Brazilian family
Authors: Zanchetta, S Ohara, K Rodrigues, PT Carvalho, ELL Richieri-Costa, A
Citation: S. Zanchetta et al., "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: Report on a Brazilian family, AM J MED G, 95(1), 2000, pp. 13-16
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Authors: Wallis, DE Roessler, E Hehr, U Nanni, L Wiltshire, T Richieri-Costa, A Gillessen-Kaesbach, G Zackai, EH Rommens, J Muenke, M
Citation: De. Wallis et al., Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly, NAT GENET, 22(2), 1999, pp. 196-198
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
Authors: Guion-Almeida, ML Richieri-Costa, A
Citation: Ml. Guion-almeida et A. Richieri-costa, Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?, CLIN DYSMOR, 8(1), 1999, pp. 1-4
New syndrome of growth and mental retardation, structural anomalies of thecentral nervous system, and first branchial arch, anophthalmia, heminasal A/hypoplasia, and atypical clefting: Report on four Brazilian patients
Authors: Guion-Almeida, ML Richieri-Costa, A
Citation: Ml. Guion-almeida et A. Richieri-costa, New syndrome of growth and mental retardation, structural anomalies of thecentral nervous system, and first branchial arch, anophthalmia, heminasal A/hypoplasia, and atypical clefting: Report on four Brazilian patients, AM J MED G, 87(3), 1999, pp. 237-244
Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients
Authors: Guion-Almeida, ML Zechi-Ceide, RM Richieri-Costa, A
Citation: Ml. Guion-almeida et al., Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients, AM J MED G, 87(1), 1999, pp. 72-77
Risultati: 1-12 |