المؤلفون: Beltrão LA; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil., Correia EPE; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil., da Rosa EB; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil., Correia JD; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil., Kopacek C; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.; Brotherhood of the Holy House of Mercy of Porto Alegre (ISCMPA), Porto Alegre, Rio Grande do Sul, Brazil.; President Vargas Maternal and Child Hospital (HMIPV), Porto Alegre, Rio Grande do Sul, Brazil., Faria AEV; President Vargas Maternal and Child Hospital (HMIPV), Porto Alegre, Rio Grande do Sul, Brazil., Rosa RCM; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil., Zen PRG; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.; Brotherhood of the Holy House of Mercy of Porto Alegre (ISCMPA), Porto Alegre, Rio Grande do Sul, Brazil., Rosa RFM; Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil.; Brotherhood of the Holy House of Mercy of Porto Alegre (ISCMPA), Porto Alegre, Rio Grande do Sul, Brazil.; President Vargas Maternal and Child Hospital (HMIPV), Porto Alegre, Rio Grande do Sul, Brazil.

المصدر: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2019 Jan; Vol. 61 (1), pp. 113-114.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN: 1442-200X (Electronic) Linking ISSN: 13288067 NLM ISO Abbreviation: Pediatr Int Subsets: MEDLINE

مواضيع طبية MeSH: Clitoris/*abnormalities , Epidermal Cyst/*diagnosis, Disorders of Sex Development/diagnosis ; Female ; Humans ; Infant, Newborn ; Remission, Spontaneous

المؤلفون: Silveira DB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., da Rosa EB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Correia JD; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Trevisan P; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Fiegenbaum M; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Oliveira CA; Institute of Education and Research, Hospital Moinhos de Vento, RS, Brazil., Grapiglia CG; Graduation in Nursing, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Nunes MR; Graduation in Nursing, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Rosa RCM; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Zen TD; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Pharmacy, Faculdade de Ciências da Saúde, Centro Universitário Ritter dos Reis - UniRitter, Porto Alegre, RS, Brazil., Zen PRG; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil., Rosa RFM; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil. Electronic address: rfmrosa@gmail.com.

المصدر: International journal of cardiology [Int J Cardiol] 2017 Sep 15; Vol. 243, pp. 194-196. Date of Electronic Publication: 2017 May 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Disease Progression*, Birth Weight/*physiology , Body Height/*physiology , Head/*growth & development , Heart Defects, Congenital/*physiopathology, Brazil/epidemiology ; Female ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/mortality ; Hospitalization/trends ; Humans ; Infant ; Infant, Newborn ; Male ; Prospective Studies ; Treatment Outcome

المؤلفون: Pogue R; Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília, DF, Brazil., Marques FA; Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília, DF, Brazil.; Biotechnology Laboratory, Universidade CEUMA, São Luis, MA, Brazil.; Department of Biomedicine, Universidade CEUMA, São Luís, MA, Brazil.; Department of Pharmacy, Universidade CEUMA, São Luís, MA, Brazil., Kopacek C; Department of Pediatric Endocrinology, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil., Rosa RCM; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Dorfman LE; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.; Department of Biomedicine, Universidade do Vale do Rio dos Sinos (UNISINOS), São Leopoldo, RS, Brazil., Mazzeu JF; Graduate Program in Medical Sciences, Universidade de Brasília, Brasília, Brazil., Flores JAM; Department of Pediatric Radiology, Hospital da Criança Santo Antônio (HCSA), Porto Alegre, RS, Brazil., Zen PRG; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.; Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.; Department of Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil., Rosa RFM; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.; Graduate Program in Biosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil.; Department of Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.; Department of Clinical Genetics, HMIPV, Porto Alegre, RS, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1152-1158. Date of Electronic Publication: 2017 Mar 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*physiopathology , Bone Diseases, Developmental/*physiopathology , Dwarfism/*physiopathology , Hand Deformities, Congenital/*physiopathology , Pierre Robin Syndrome/*physiopathology, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Bone Diseases, Developmental/diagnosis ; Bone Diseases, Developmental/genetics ; Child ; Consanguinity ; Dwarfism/diagnostic imaging ; Dwarfism/genetics ; Female ; Hand Deformities, Congenital/diagnostic imaging ; Hand Deformities, Congenital/genetics ; Humans ; Karyotype ; Pedigree ; Phenotype ; Pierre Robin Syndrome/diagnostic imaging ; Pierre Robin Syndrome/genetics ; Ribs/diagnostic imaging ; Ribs/pathology ; Ribs/physiopathology ; Siblings

SCR Disease Name: Catel Manzke syndrome

عنوان ترانسليتريتد: IRMÃOS AFETADOS PELA SÍNDROME DE ECTRODACTILIA, DISPLASIA ECTODÉRMICA E FISSURA LABIOPALATAL (EEC) COM PAIS HÍGIDOS: MOSAICISMO GERMINATIVO?

المؤلفون: Rosa RFM; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil., Moraes SAG; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil., Sulczinski LP; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil., Silva FAD; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil., Milner OG; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil., Pires SRS; Hospital Materno-Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brasil., Artigalas OAP; Hospital Materno-Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brasil., Rosa RCM; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil., Zen PRG; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil.

المصدر: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo [Rev Paul Pediatr] 2017 Apr-Jun; Vol. 35 (2), pp. 234-238. Date of Electronic Publication: 2017 May 15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sociedade De Pediatria De Sao Paulo Country of Publication: Brazil NLM ID: 9109353 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1984-0462 (Electronic) Linking ISSN: 01030582 NLM ISO Abbreviation: Rev Paul Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Mosaicism*, Cleft Lip/*genetics , Cleft Palate/*genetics , Ectodermal Dysplasia/*genetics, Fatal Outcome ; Germ-Line Mutation ; Humans ; Infant, Newborn ; Male ; Parents ; Pedigree ; Phenotype

SCR Disease Name: Ectrodactyly-cleft lip-palate syndrome

المؤلفون: Rosa RFM; Master's degree, medical geneticist at the UFCSPA/CHSCPA. Doctoral student in pathology (Graduate Program in Pathology), UFCSPA., Rosa RCM; Specialist in pediatrics, master's degree student in pathology (Graduate Program in Pathology), UFCSPA. Brazil., Krumenauer RCP; Master's degree in health sciences, otorhinolaryngologist, tutor at the Otorhinolaryngology Unit, HCSA/CHSCPA, Brazil., Varella-Garcia M; Doctoral degree in biological science, professor and cytogeneticist in charge of the Cytogenetics Laboratory, Medical Oncology Division, University of Colorado Denver, US., Paskulin GA; Doctoral degree in genetics and molecular biology, medical geneticist at UFCSPA/CHSCPA. Professor in the Clinical Genetics Discipline and the Graduate Program on Pathology, UFCSPA. Cytogeneticist in charge of the Cytogenetics Laboratory of the UFCSPA, Brazil.

المصدر: Brazilian journal of otorhinolaryngology [Braz J Otorhinolaryngol] 2011 Jul-Aug; Vol. 77 (4), pp. 540.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: E.N.T. Brazilian Society Country of Publication: Brazil NLM ID: 101207337 Publication Model: Print Cited Medium: Internet ISSN: 1808-8686 (Electronic) Linking ISSN: 18088686 NLM ISO Abbreviation: Braz J Otorhinolaryngol Subsets: MEDLINE

مواضيع طبية MeSH: 22q11 Deletion Syndrome/*diagnosis , Larynx/*abnormalities, Child ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male