Found: 62
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Familial Aggregation of Childhood- and Adulthood-Onset Systemic Lupus Erythematosus.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 7, p. 927, doi. 10.1007/s00431-013-1964-0
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- Publication type:
- Article
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 197, doi. 10.1159/000489870
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- Publication type:
- Article
Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 5, p. 244, doi. 10.1159/000477598
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- Publication type:
- Article
ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 4, p. 201, doi. 10.1159/000470025
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- Publication type:
- Article
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 4, p. 187, doi. 10.1159/000477084
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- Publication type:
- Article
A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 161, doi. 10.1159/000469965
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- Publication type:
- Article
17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 36, doi. 10.1159/000452753
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- Publication type:
- Article
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 494, doi. 10.3390/ijms24010494
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- Publication type:
- Article
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 1, p. 17, doi. 10.1038/jhg.2014.96
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- Publication type:
- Article
Genomic imbalances in craniofacial microsomia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 970, doi. 10.1002/ajmg.c.31857
- By:
- Publication type:
- Article
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 912, doi. 10.1002/ajmg.c.31852
- By:
- Publication type:
- Article
Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies.
- Published in:
- Public Health Genomics, 2019, v. 22, n. 1/2, p. 69, doi. 10.1159/000501973
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- Publication type:
- Article
Obituary: Antonio Richieri‐Costa (1946–2019).
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2169, doi. 10.1002/ajmg.a.61343
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- Publication type:
- Article
A recognizable phenotype related to 19p13.12 microdeletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1753, doi. 10.1002/ajmg.a.38842
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- Publication type:
- Article
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 143, doi. 10.1002/ajmg.a.37976
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- Publication type:
- Article
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 766, doi. 10.1002/ajmg.a.37494
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- Publication type:
- Article
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 215, doi. 10.1002/ajmg.a.36809
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- Publication type:
- Article
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1659, doi. 10.1002/ajmg.a.36512
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- Publication type:
- Article
Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.
- Published in:
- 2012
- By:
- Publication type:
- Other
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2905, doi. 10.1002/ajmg.a.35603
- By:
- Publication type:
- Article
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2754, doi. 10.1002/ajmg.a.34168
- By:
- Publication type:
- Article
Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
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- Publication type:
- Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
- Published in:
- Genetics Research, 2024, v. 2024, p. 1, doi. 10.1155/2024/5549592
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- Publication type:
- Article
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 9, p. 1578, doi. 10.1177/10556656231174435
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- Publication type:
- Article
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
- Published in:
- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 4, p. 411, doi. 10.1597/13-233
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- Publication type:
- Article
Feeding Infants With Cleft Lip and/or Palate in Brazil: Suggestions to Improve Health Policy and Research.
- Published in:
- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 5, p. 577, doi. 10.1597/11-155
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- Publication type:
- Article
Local Strategies to Address Health Needs of Individuals With Orofacial Clefts in Alagoas, Brazil.
- Published in:
- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 4, p. 424, doi. 10.1597/11-069
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- Publication type:
- Article
Malformations of Cortical Development in Patients With Midline Facial Defects and Ocular Hypertelorism.
- Published in:
- Cleft Palate Craniofacial Journal, 2010, v. 47, n. 4, p. 343, doi. 10.1597/08-167.1
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- Publication type:
- Article
Evaluation of Craniofacial Care Outside the Brazilian Reference Network for Craniofacial Treatment.
- Published in:
- Cleft Palate Craniofacial Journal, 2009, v. 46, n. 2, p. 204, doi. 10.1597/07-153.1
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- Publication type:
- Article
Neonatal Care of Infants With Cleft Lip and/or Palate: Feeding Orientation and Evolution of Weight Gain in a Nonspecialized Brazilian Hospital.
- Published in:
- Cleft Palate Craniofacial Journal, 2007, v. 44, n. 3, p. 329, doi. 10.1597/05-177
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- Publication type:
- Article
Midline Facial Defects With Hypertelorism and Low-Grade Astrocytoma: A Previously Undescribed Association.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 6, p. 748, doi. 10.1597/05-099
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- Publication type:
- Article
Brazil's Craniofacial Project: Genetic Evaluation and Counseling in the Reference Network for Craniofacial Treatment.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 5, p. 577, doi. 10.1597/04-203
- By:
- Publication type:
- Article
Cerebellar Involvement in Midline Facial Defects With Ocular Hypertelorism.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 4, p. 466, doi. 10.1597/04-179R.1
- By:
- Publication type:
- Article
Q289P Mutation in FGFR2 Gene Causes Saethre-Chotzen Syndrome: Some Considerations About Familial Heterogeneity.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 2, p. 142, doi. 10.1597/04-155.1
- By:
- Publication type:
- Article
Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.
- Published in:
- 2019
- By:
- Publication type:
- journal article
<italic>CranFlow</italic>: An Application for Record‐Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 1, p. 72, doi. 10.1002/bdr2.1123
- By:
- Publication type:
- Article
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
- Published in:
- Sexual Development, 2016, v. 10, n. 1, p. 23, doi. 10.1159/000444870
- By:
- Publication type:
- Article
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03273-z
- By:
- Publication type:
- Article
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 148, doi. 10.1111/cga.12422
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- Publication type:
- Article
Pure 21q22.3 deletion identified in a patient with mild phenotypic features.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 5, p. 178, doi. 10.1111/cga.12270
- By:
- Publication type:
- Article
Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47313-2
- By:
- Publication type:
- Article
Demographic history differences between Hispanics and Brazilians imprint haplotype features.
- Published in:
- G3: Genes | Genomes | Genetics, 2022, v. 12, n. 7, p. 1, doi. 10.1093/g3journal/jkac111
- By:
- Publication type:
- Article
Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
- Published in:
- Plastic Surgery International, 2012, p. 1, doi. 10.1155/2012/247104
- By:
- Publication type:
- Article
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.
- Published in:
- Jornal de Pediatria, 2024, v. 100, n. 6, p. 604, doi. 10.1016/j.jped.2024.07.002
- By:
- Publication type:
- Article
Identification of genomic imbalances in oral clefts.
- Published in:
- Jornal de Pediatria, 2021, v. 97, n. 3, p. 321, doi. 10.1016/j.jped.2020.06.005
- By:
- Publication type:
- Article
Genomic imbalances in syndromic congenital heart disease.
- Published in:
- Jornal de Pediatria, 2017, v. 93, n. 5, p. 497, doi. 10.1016/j.jped.2016.11.007
- By:
- Publication type:
- Article