Found: 42
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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
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- Publication type:
- journal 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
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
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- 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
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.
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- 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
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
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- Publication type:
- Article
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2754, doi. 10.1002/ajmg.a.34168
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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
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
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- 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
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- 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
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- 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
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
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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
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- 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
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- 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
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- 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
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- Publication type:
- Article
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.
- Published in:
- 2022
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- 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
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- 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
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- 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
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- Publication type:
- Article
Time of diagnosis of oral clefts: a multicenter study.
- Published in:
- Jornal de Pediatria, 2011, v. 87, n. 3, p. 225
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- Publication type:
- Article
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 537, doi. 10.1111/cge.14215
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- Publication type:
- Article
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518
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- Publication type:
- Article
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
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- Publication type:
- Article
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 2, p. 211, doi. 10.3390/genes15020211
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- Publication type:
- Article
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 885, doi. 10.3390/genes14040885
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- Publication type:
- Article
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 882, doi. 10.3390/genes14040882
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- Publication type:
- Article
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2377, doi. 10.3390/genes13122377
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- Publication type:
- Article
Copy number variation in the susceptibility to systemic lupus erythematosus.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206683
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- Publication type:
- Article