المؤلفون: Rosa RF; 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.; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil., Correia EP; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Guimarães VB; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Trombetta JS; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Beltrão LA; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Lliguin KL; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., de Mattos VF; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Rosa RC; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Zen PR; 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.; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Jul; Vol. 170 (7), pp. 1945-6. Date of Electronic Publication: 2016 May 07.

نوع المنشور: Case Reports; Letter

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: Gallbladder Diseases/*genetics , Trisomy 13 Syndrome/*genetics, Female ; Humans ; Infant ; Infant, Newborn ; Male

المؤلفون: Silveira DB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.; Graduation in Nursing, UFCSPA, RS, Brazil., da Rosa EB; Graduation in Nursing, UFCSPA, RS, Brazil., de Mattos VF; Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil., Goetze TB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Sleifer P; Speech Language Pathology, Universidade Federal do Rio Grande do Sul (UFRGS), RS, Brazil., Santa Maria FD; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Rosa RC; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Rosa RF; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.; Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.; Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), RS, Brazil., Zen PR; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil.; Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jun; Vol. 167 (6), pp. 1294-9. Date of Electronic Publication: 2015 Apr 21.

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, Drug-Induced/*pathology , Auditory Perceptual Disorders/*pathology , Nasal Bone/*abnormalities , Nasal Obstruction/*pathology , Prenatal Exposure Delayed Effects/*pathology , Tooth Abnormalities/*pathology , Warfarin/*adverse effects, Abnormalities, Drug-Induced/genetics ; Abnormalities, Drug-Induced/surgery ; Auditory Perceptual Disorders/chemically induced ; Auditory Perceptual Disorders/genetics ; Auditory Perceptual Disorders/surgery ; Child ; Female ; Fetus ; Follow-Up Studies ; Humans ; Male ; Mothers ; Nasal Bone/pathology ; Nasal Bone/surgery ; Nasal Obstruction/chemically induced ; Nasal Obstruction/genetics ; Nasal Obstruction/surgery ; Osteotomy ; Pregnancy ; Prenatal Exposure Delayed Effects/chemically induced ; Prenatal Exposure Delayed Effects/genetics ; Prenatal Exposure Delayed Effects/surgery ; Tooth Abnormalities/chemically induced ; Tooth Abnormalities/genetics ; Tooth Abnormalities/surgery

SCR Disease Name: Warfarin syndrome

المؤلفون: Rosa RF; Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, Brazil; Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil; Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Brazil., Guimarães VB, Beltrão LA, Trombetta JS, Lliguin KL, de Mattos VF, Zen PR

المصدر: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2015 Apr; Vol. 57 (2), pp. e69-72. Date of Electronic Publication: 2015 Mar 25.

نوع المنشور: Case Reports; Journal Article; Review

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

مواضيع طبية MeSH: Mandibulofacial Dysostosis/*diagnosis , Pierre Robin Syndrome/*diagnosis, Fatal Outcome ; Humans ; Infant ; Infant, Newborn ; Male ; Mandibulofacial Dysostosis/complications ; Mandibulofacial Dysostosis/therapy ; Pierre Robin Syndrome/complications ; Pierre Robin Syndrome/therapy ; Respiration, Artificial ; Tracheostomy

SCR Disease Name: Acrofacial dysostosis, Nager type

المؤلفون: de Mattos VF; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil., Sulczinski LP; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Milner OG; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., da Silva FA; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., de Moraes SA; Graduation in Medicine, 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; Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Varella-Garcia M; School of Medicine, Division of Medical Oncology, University of Colorado Denver, CO, USA., Zen PR; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Rosa RF; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil; Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), RS, Brazil. Electronic address: rfmr@terra.com.br.

المصدر: International journal of cardiology [Int J Cardiol] 2014 Nov 15; Vol. 177 (1), pp. 6-7. Date of Electronic Publication: 2014 Oct 05.

نوع المنشور: Letter

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: 22q11 Deletion Syndrome/*diagnosis , 22q11 Deletion Syndrome/*genetics , Heart Defects, Congenital/*diagnosis , Heart Defects, Congenital/*genetics , Hypocalcemia/*diagnosis , Hypocalcemia/*genetics, Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male

المؤلفون: Campos GC; Trainee in Radiology and Imaging Diagnosis at Instituto de Pós-Graduação Médica Carlos Chagas (IPGMCC), Rio de Janeiro, RJ, Brazil., Castro MV; PhD, Assistant Professor, Pontifícia Universidade Católica do Rio de Janeiro (PUC-Rio), Radiologist, Instituto Fernandes Figueira (IFF), Rio de Janeiro, RJ, Brazil., de Mattos VF; PhD, MD, Unit of Mastology and Gynecology Clinic, Instituto Fernandes Figueira (IFF), Rio de Janeiro, RJ, Brazil., Pinto LZ; Master, MD, Mastologist, Instituto Fernandes Figueira (IFF), Rio de Janeiro, RJ, Brazil., Boechat MC; PhD, Head of Radiology Service, Instituto Fernandes Figueira (IFF), Rio de Janeiro, RJ, Brazil., Dos Santos AA; PhD, Full Professor, Course of Radiology and Imaging Diagnosis, Instituto de Pós-Graduação Médica Carlos Chagas (IPGMCC), Rio de Janeiro, RJ, Brazil.

المصدر: Radiologia brasileira [Radiol Bras] 2014 Jul-Aug; Vol. 47 (4), pp. 256-8.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Colegio Brasileiro De Radiologia Country of Publication: Brazil NLM ID: 1305000 Publication Model: Print Cited Medium: Print ISSN: 0100-3984 (Print) Linking ISSN: 01003984 NLM ISO Abbreviation: Radiol Bras Subsets: PubMed not MEDLINE

المؤلفون: de Mattos VF; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil., Graziadio C; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil., Machado Rosa RF; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil; Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, Rio Grande do Sul, Brazil., Lenhardt R; Radiology Service, CHSCPA, Porto Alegre, Rio Grande do Sul, Brazil., Alves RP; Radiology Service, CHSCPA, Porto Alegre, Rio Grande do Sul, Brazil., Trevisan P; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil., Paskulin GA; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil., Zen PR; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: paulozen@ufcspa.edu.br.

المصدر: Pediatric neurology [Pediatr Neurol] 2014 Jun; Vol. 50 (6), pp. 612-5. Date of Electronic Publication: 2014 Jan 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity*, Abnormalities, Multiple/*genetics , Alopecia/*genetics , Cerebellum/*abnormalities , Craniofacial Abnormalities/*genetics , Growth Disorders/*genetics , Neurocutaneous Syndromes/*genetics, Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/pathology ; Alopecia/diagnostic imaging ; Alopecia/pathology ; Brain/pathology ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Craniofacial Abnormalities/diagnostic imaging ; Craniofacial Abnormalities/pathology ; Genes, Recessive ; Growth Disorders/diagnostic imaging ; Growth Disorders/pathology ; Humans ; Imaging, Three-Dimensional ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Neurocutaneous Syndromes/diagnostic imaging ; Neurocutaneous Syndromes/pathology ; Pedigree ; Rhombencephalon/diagnostic imaging ; Rhombencephalon/pathology ; Skull/diagnostic imaging ; Tomography, X-Ray Computed

SCR Disease Name: Gomez Lopez Hernandez syndrome