المؤلفون: Floriani MA; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil., Santos AS; Underdegree Program in Biomedicine, UFCSPA, Porto Alegre, Brazil., Diniz BL; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil., Glaeser AB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil., Gazzola Zen PR; Department of Internal Medicine, Clinical Genetics, UFCSPA, Porto Alegre, Brazil.; Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil., Machado Rosa RF; Department of Internal Medicine, Clinical Genetics, UFCSPA, Porto Alegre, Brazil.; Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil.

المصدر: Molecular syndromology [Mol Syndromol] 2023 Feb; Vol. 14 (1), pp. 1-10. Date of Electronic Publication: 2022 Jul 04.

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: Glaeser AB; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Diniz BL; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Santos AS; Underdegree Program in Biomedicine, UFCSPA, Porto Alegre, RS, Brazil., Guaraná BB; Medical Residency, Clinical Genetics, UFCSPA, Porto Alegre, RS, Brazil., Muniz VF; Medical Residency, Clinical Genetics, UFCSPA, Porto Alegre, RS, Brazil., Carlotto BS; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Everling EM; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Noguchi PY; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Garcia AR; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Miola J; Graduation in Medicine, UFCSPA, Porto Alegre, RS, Brazil., Riegel M; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil., Mergener R; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Gazzola Zen PR; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil., Machado Rosa RF; Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil. Electronic address: rosa@ufcspa.edu.br.

المصدر: European journal of medical genetics [Eur J Med Genet] 2021 Nov; Vol. 64 (11), pp. 104319. Date of Electronic Publication: 2021 Aug 30.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Duplication*, Chromosome Disorders/*genetics , Eye Abnormalities/*genetics , Goldenhar Syndrome/*genetics, Aneuploidy ; Child ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 22/genetics ; Comparative Genomic Hybridization ; Eye Abnormalities/pathology ; Female ; Gene Dosage ; Goldenhar Syndrome/pathology ; Humans

SCR Disease Name: Schmid-Fraccaro syndrome

المؤلفون: de Almeida IG Jr; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Kuratani DK; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Gomes LM; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Fiegenbaum M; Human Genetics, UFCSPA, RS, Brazil., Estima Correia EP; Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), RS, Brazil., Gazzola Zen PR; Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil., Machado Rosa RF; Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil. Electronic address: rfmrosa@gmail.com.

المصدر: European journal of medical genetics [Eur J Med Genet] 2020 Feb; Vol. 63 (2), pp. 103641. Date of Electronic Publication: 2019 Mar 17.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Epidermal Cyst/*genetics , Holoprosencephaly/*genetics , Hypernatremia/*genetics , Nuclear Proteins/*genetics , Respiratory Tract Fistula/*genetics , Transcription Factors/*genetics, Brain/abnormalities ; Brain/diagnostic imaging ; Epidermal Cyst/diagnosis ; Facies ; Female ; Holoprosencephaly/diagnosis ; Humans ; Hypernatremia/diagnosis ; Infant ; Magnetic Resonance Imaging ; Phenotype ; Respiratory Tract Fistula/diagnosis ; Syndrome ; Tomography, X-Ray Computed

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

المؤلفون: Paskulin GA; Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil., Riegel M, Machado Rosa RF, Graziadio C, Gazzola Zen PR

المصدر: European journal of medical genetics [Eur J Med Genet] 2011 Mar-Apr; Vol. 54 (2), pp. 181-5. Date of Electronic Publication: 2010 Nov 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosome Inversion* , Chromosomes, Human, Pair 7*, Abnormalities, Multiple ; Female ; Humans ; Infant ; Mothers ; Polydactyly ; Rare Diseases/genetics