المؤلفون: Mestre VF, Spoladori IC, Osiak LB, Paiva WJM, Ferreira de Lima RL, Silveira BC, Salles MJS

المصدر: General dentistry [Gen Dent] 2022 Jul-Aug; Vol. 70 (4), pp. 59-66.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academy of General Dentistry Country of Publication: United States NLM ID: 7610466 Publication Model: Print Cited Medium: Internet ISSN: 0363-6771 (Print) Linking ISSN: 03636771 NLM ISO Abbreviation: Gen Dent

مواضيع طبية MeSH: Cleidocranial Dysplasia*/diagnostic imaging , Cleidocranial Dysplasia*/genetics, Core Binding Factor Alpha 1 Subunit/genetics ; Humans

المؤلفون: Souza EL; Department of Pediatrics, School of Medicine of Bahia, Federal University of Bahia, Salvador, Brazil; Post-Graduation Program in Interactive Processes of Systems and Organs, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil; Post-Graduation in Medicine and Health, Federal University of Bahia, Salvador, Brazil; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil. Electronic address: ednalu@ufba.br., Ribeiro Mota L; Post-Graduation Program in Interactive Processes of Systems and Organs, Institute of Health Sciences, Federal University of Bahia, Salvador, Brazil., Leite Ferreira de Lima RL; Department of Biology, Institute of Biology, Federal University of Bahia, Salvador, Brazil. Electronic address: fdelima@ufba.br., Horejs Bittencourt P; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil., Castro Ribeiro Guedes VM; University Hospital Professor Edgard, Federal University of Bahia, Salvador, Brazil., Salinas D; Division of Pediatric Pulmonology, Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: dsalinas@chla.usc.edu.

المصدر: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2021 May; Vol. 20 (3), pp. 489-491. Date of Electronic Publication: 2020 Jul 14.

نوع المنشور: Case Reports; Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5010 (Electronic) Linking ISSN: 15691993 NLM ISO Abbreviation: J Cyst Fibros Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Cystic Fibrosis/*genetics , Cystic Fibrosis Transmembrane Conductance Regulator/*genetics, Humans ; Infant ; Male

المؤلفون: Dos Santos JF; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Barão of Geremoabo Street, 147, Campus Ondina, Salvador, BA, CEP: 40170-290, Brazil., Mota LR; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Barão of Geremoabo Street, 147, Campus Ondina, Salvador, BA, CEP: 40170-290, Brazil., Rocha PH; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Barão of Geremoabo Street, 147, Campus Ondina, Salvador, BA, CEP: 40170-290, Brazil., Ferreira de Lima RL; Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Barão of Geremoabo Street, 147, Campus Ondina, Salvador, BA, CEP: 40170-290, Brazil. fdelima@ufba.br.

المصدر: Molecular biology reports [Mol Biol Rep] 2016 Nov; Vol. 43 (11), pp. 1221-1225. Date of Electronic Publication: 2016 Aug 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Angelman Syndrome/*diagnosis , Polymerase Chain Reaction/*methods , Prader-Willi Syndrome/*diagnosis , snRNP Core Proteins/*genetics, Angelman Syndrome/genetics ; Betaine/metabolism ; Chromosomes, Human, Pair 15/genetics ; DNA Methylation ; Genomic Imprinting ; Humans ; Molecular Diagnostic Techniques/methods ; Prader-Willi Syndrome/genetics ; Sensitivity and Specificity

المؤلفون: Vieira GH; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, S.C., USA ; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., Cook MM; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, S.C., USA., Ferreira De Lima RL; Institute of Biology, Federal University of Bahia, Salvador, Rio de Janeiro, Brazil., Frigério Domingues CE; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., de Carvalho DR; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., Soares de Paiva I; Department of Pediatrics, Faculty of Medical Sciences, State University of Rio de Janeiro, Rio de Janeiro, Brazil., Moretti-Ferreira D; Department of Genetics, São Paulo State University, Botucatu, Rio de Janeiro, Brazil., Srivastava AK; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, S.C., USA ; Department of Genetics and Biochemistry, Clemson University, Clemson, S.C., USA.

المصدر: Molecular syndromology [Mol Syndromol] 2015 Feb; Vol. 6 (1), pp. 32-8. Date of Electronic Publication: 2015 Jan 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

المؤلفون: Fakhouri WD; Microbiology and Molecular Genetics., Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC

المصدر: Human molecular genetics [Hum Mol Genet] 2014 May 15; Vol. 23 (10), pp. 2711-20. Date of Electronic Publication: 2014 Jan 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation*, Abnormalities, Multiple/*genetics , Cleft Lip/*genetics , Cleft Palate/*genetics , Cysts/*genetics , Interferon Regulatory Factors/*genetics , Lip/*abnormalities, Base Sequence ; Binding Sites ; Case-Control Studies ; Cell Line, Tumor ; DNA Mutational Analysis ; Enhancer Elements, Genetic ; Female ; Genetic Association Studies ; HEK293 Cells ; Humans ; Interferon Regulatory Factors/metabolism ; Male ; Pedigree ; Point Mutation ; Protein Binding ; Transcription Factor 3/metabolism ; Transcription Factors/metabolism ; Tumor Suppressor Proteins/metabolism

SCR Disease Name: Van der Woude syndrome

المؤلفون: de Azevedo Moreira LM; Laboratory of Human Genetics and Mutagenesis, Biology Institute, Federal University of Bahia, Barão de Geremoabo, Salvador, Bahia, Brazil. lazevedo@ufba.br, Matos MA, Schiper PP, Carvalho AF, Gomes IC, Rolemberg JC, Ferreira de Lima RL, Toralles MB

المصدر: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2010 Apr; Vol. 88 (4), pp. 228-31.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101155107 Publication Model: Print Cited Medium: Internet ISSN: 1542-0760 (Electronic) Linking ISSN: 15420752 NLM ISO Abbreviation: Birth Defects Res A Clin Mol Teratol Subsets: MEDLINE

مواضيع طبية MeSH: Achondroplasia/*complications , Down Syndrome/*complications , Receptor, Fibroblast Growth Factor, Type 3/*genetics, Achondroplasia/genetics ; Achondroplasia/pathology ; Amino Acid Substitution ; Down Syndrome/genetics ; Down Syndrome/pathology ; Down Syndrome/psychology ; Genotype ; Humans ; Infant, Newborn ; Karyotyping ; Male ; Maternal Age ; Mutation, Missense ; Paternal Age ; Phenotype ; Point Mutation

المؤلفون: Ferreira de Lima RL; Departamento de Genética, Universidade Estadual de São Paulo, Botucatu, SP, Brazil., Moretti-Ferreira D, Richieri-Costa A, Murray JC

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2003 Sep 15; Vol. 122A (1), pp. 56-8.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Body Height/*genetics , Bone and Bones/*abnormalities , Mandible/*abnormalities , Pierre Robin Syndrome/*genetics, Brazil ; Chromosome Mapping ; Genetic Markers ; Humans