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Indoor Tanning and Tanning Dependence in Young People After a Diagnosis of Basal Cell Carcinoma.
- Published in:
- JAMA Dermatology, 2013, v. 149, n. 9, p. 1110, doi. 10.1001/jamadermatol.2013.5104
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- Publication type:
- Article
A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 5, p. 1, doi. 10.1210/jcemcr/luad082
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- Publication type:
- Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
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- Publication type:
- Article
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1728, doi. 10.1002/ajmg.a.62693
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- Publication type:
- Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
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- Publication type:
- Article
Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas.
- Published in:
- Laryngoscope, 1999, v. 109, n. 4, p. 661, doi. 10.1097/00005537-199904000-00027
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- Publication type:
- Article
Linkage relationships among four 11p markers in the Utah dataset.
- Published in:
- Genetic Epidemiology, 1986, v. 3, n. S1, p. 117, doi. 10.1002/gepi.1370030718
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- Publication type:
- Article
Prenatal diagnosis of ornithine transcarbamylase deficiency.
- Published in:
- 1999
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- Publication type:
- journal article
Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients.
- Published in:
- Genetics Research, 2014, v. 96, p. 00, doi. 10.1017/S0016672314000032
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- Publication type:
- Article
Novel gene identified in an exome-wide association study of tanning dependence.
- Published in:
- Experimental Dermatology, 2014, v. 23, n. 10, p. 757, doi. 10.1111/exd.12503
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- Publication type:
- Article
A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.
- Published in:
- Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/8752610
- By:
- Publication type:
- Article
A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.
- Published in:
- Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/8752610
- By:
- Publication type:
- Article
A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH.
- Published in:
- Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/8752610
- By:
- Publication type:
- Article
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00542-5
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- Publication type:
- Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01162
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- Publication type:
- Article
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01162
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- Publication type:
- Article
The hedgehog signalling pathway in tumorigenesis and development.
- Published in:
- Oncogene, 1999, v. 18, n. 55, p. 7844, doi. 10.1038/sj.onc.1203282
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- Publication type:
- Article
Indoor Tanning and the MC1R Genotype: Risk Prediction for Basal Cell Carcinoma Risk in Young People.
- Published in:
- American Journal of Epidemiology, 2015, v. 181, n. 11, p. 908, doi. 10.1093/aje/kwu356
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- Publication type:
- Article
Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 2, p. 138, doi. 10.1111/j.1525-1470.2010.01227.x
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- Publication type:
- Article
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients.
- Published in:
- Carcinogenesis, 2017, v. 38, n. 11, p. 1112, doi. 10.1093/carcin/bgx089
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- Publication type:
- Article
Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 4, p. 1272, doi. 10.1038/jid.2011.402
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- Publication type:
- Article
Sheep, lilies and human genetics.
- Published in:
- Nature, 2000, v. 406, n. 6799, p. 944, doi. 10.1038/35023197
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- Publication type:
- Article
Functional and physical interaction between the mismatch repair and FA-BRCA pathways.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4395, doi. 10.1093/hmg/ddr366
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- Publication type:
- Article
Nevoid Basal Cell Carcinoma Syndrome.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, p. 126S, doi. 10.1038/jid.1994.23
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- Publication type:
- Article
Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 2, p. 178, doi. 10.1111/1523-1747.ep12392682
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- Publication type:
- Article
MEN1 tumor-suppressor protein localizes to telomeres during meiosis.
- Published in:
- Genes, Chromosomes & Cancer, 2002, v. 35, n. 1, p. 81, doi. 10.1002/gcc.10113
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- Publication type:
- Article
Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel-type zinc finger sequence on chromosome segment 9q22.3.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 18, n. 3, p. 212, doi. 10.1002/(SICI)1098-2264(199703)18:3<212::AID-GCC7>3.0.CO;2-4
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- Publication type:
- Article
Genetic and molecular control of folate-homocysteine metabolism in mutant mice.
- Published in:
- Mammalian Genome, 2002, v. 13, n. 5, p. 259, doi. 10.1007/s00335-001-3054-2
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- Publication type:
- Article
BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer.
- Published in:
- Breast Journal, 2003, v. 9, n. 3, p. 167, doi. 10.1046/j.1524-4741.2003.09307.x
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- Publication type:
- Article
Treatment of a Thyrotropinoma with Octreotide-LAR in a Patient with Multiple Endocrine Neoplasia-1.
- Published in:
- Thyroid, 2000, v. 10, n. 11, p. 1001, doi. 10.1089/thy.2000.10.1001
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- Publication type:
- Article
Mutations and polymorphisms in the human ornithine transcarbamylase ( OTC) gene.
- Published in:
- Human Mutation, 2006, v. 27, n. 7, p. 626, doi. 10.1002/humu.20339
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- Publication type:
- Article
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2399, doi. 10.1093/hmg/ddh271
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- Publication type:
- Article
The hedgehog pathway and basal cell carcinomas.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 7, p. 757, doi. 10.1093/hmg/10.7.757
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- Publication type:
- Article
Co-occurrence of Risk Alleles in or Near Genes Modulating Insulin Secretion Predisposes Obese Youth to Prediabetes.
- Published in:
- Diabetes Care, 2014, v. 37, n. 2, p. 475, doi. 10.2337/dc13-1458
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- Publication type:
- Article
Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.
- Published in:
- Human Mutation, 2002, v. 19, n. 3, p. 307, doi. 10.1002/humu.9014
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- Publication type:
- Article
Identification of PATCHED mutations in medulloblastomas by direct sequencing.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 89, doi. 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7
- By:
- Publication type:
- Article
A common variant in the MTNR1b gene is associated with increased risk of impaired fasting glucose (IFG) in youth with obesity.
- Published in:
- 2015
- By:
- Publication type:
- journal article