Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

Autor: Serigatto HR; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Vendramini-Pittoli S; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Tonello C; Department of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Moura PP; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Peixoto AP; Department of Orthodontics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Gomes LP; Department of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil., Zechi-Ceide RM; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Oct; Vol. 191 (10), pp. 2493-2507. Date of Electronic Publication: 2023 Jun 07.

Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.

Autor: Kato RM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. Electronic address: renata.mkato@gmail.com., Moura PP; Department of Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Zechi-Ceide RM; Department of Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Tonello C; Hospital Department of Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Peixoto AP; Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil., Garib D; Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil; Bauru Dental School, University of São Paulo, Bauru, Brazil.

Publikováno v: American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics [Am J Orthod Dentofacial Orthop] 2021 Dec; Vol. 160 (6), pp. 835-843. Date of Electronic Publication: 2021 Oct 15.

Poxviruses diagnosed in cattle from Distrito Federal, Brazil (2015-2018).

Autor: Alonso RC; Secretaria de Agricultura, Abastecimento e Desenvolvimento Rural do Distrito Federal (SEAGRI), Subsecretaria de Defesa Agropecuária (DAS), Brasília, Brazil., Moura PP; Secretaria de Agricultura, Abastecimento e Desenvolvimento Rural do Distrito Federal (SEAGRI), Subsecretaria de Defesa Agropecuária (DAS), Brasília, Brazil., Caldeira DF; Secretaria de Agricultura, Abastecimento e Desenvolvimento Rural do Distrito Federal (SEAGRI), Subsecretaria de Defesa Agropecuária (DAS), Brasília, Brazil., Mendes MHAF; Secretaria de Agricultura, Abastecimento e Desenvolvimento Rural do Distrito Federal (SEAGRI), Subsecretaria de Defesa Agropecuária (DAS), Brasília, Brazil., Pinto MHB; UnB, Laboratório de Diagnóstico Patológico Veterinário, Brasília, Brazil., Cargnelutti JF; Departamento de Medicina Veterinária Preventiva, Universidade Federal de Santa Maria (UFSM), Santa Maria, Brazil., Flores EF; Departamento de Medicina Veterinária Preventiva, Universidade Federal de Santa Maria (UFSM), Santa Maria, Brazil., de Sant'Ana FJF; UnB, Laboratório de Diagnóstico Patológico Veterinário, Brasília, Brazil.

Publikováno v: Transboundary and emerging diseases [Transbound Emerg Dis] 2020 Jul; Vol. 67 (4), pp. 1563-1573. Date of Electronic Publication: 2020 Feb 03.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Autor: Gordon CT; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France. Electronic address: chris.gordon@inserm.fr., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Zechi-Ceide RM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil., Madsen EC; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Tavares AL; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA., Oufadem M; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France., Kurihara Y; Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan., Adameyko I; Unit of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm 17177, Sweden., Picard A; Service de Chirurgie Maxillo-Faciale et Plastique, Centre de Référence des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades et Université Pierre et Marie Curie, Paris 75015, France., Breton S; Service d'Imagerie Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP et Laboratoire d'Anatomie, Université Paris Descartes, Paris 75015, France., Pierrot S; Service d'ORL Pediatrique, Hôpital Necker-Enfants Malades, AP-HP et Université Paris Descartes, Paris 75015, France., Biosse-Duplan M; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service d'Odontologie, Hôpital Bretonneau, HUPNVS, AP-HP, Paris 75018, France., Voisin N; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France., Masson C; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France., Bole-Feysot C; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France., Nitschké P; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France., Delrue MA; Unité de génétique médicale, CHU Bordeaux, Bordeaux 33076, France., Lacombe D; Unité de génétique médicale, CHU Bordeaux, Bordeaux 33076, France., Guion-Almeida ML; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil., Moura PP; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil., Garib DG; Department of Orthodontics, Bauru Dental School, University of São Paulo, Bauru 17012-901, Brazil., Munnich A; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France., Ernfors P; Unit of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm 17177, Sweden., Hufnagel RB; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Kurihara H; Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan., Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Lyonnet S; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France., Golzio C; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Clouthier DE; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA., Amiel J; INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France. Electronic address: jeanne.amiel@inserm.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Apr 02; Vol. 96 (4), pp. 519-31. Date of Electronic Publication: 2015 Mar 12.