个人简介
My laboratory focuses on the molecular characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping using YAC or BAC clones, microsatellite allelotyping, and sequencing analysis of SNP variants and gene mutations have been used. We are initiating high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.
PhD University of Alabama at Birmingham (1996)
Postdoc Fellow, Clinical Cytogenetics Yale School of Medicine
Postdoc Fellow, Clinical Molecular Genetics University of Alabama at Birmingham
研究领域
Chromosome Aberrations; Cytogenetics; Genetics
近期论文
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Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.
Xiang B, Li A, Valentin D, Novak N, Zhao HY, Li P. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet 2008;146A:1
A translocation causing increased a-Klotho level results in hypophosphatemic rickets and hyperparathyroidism.
Brownstein CA, Adler F, Nelson-Williams C, Lijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter, Lifton RP. A translocation causing increased a-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA 2008;105:3455-3460.
Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement.
Li, P., et al. (2006). Karyotype-penotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am. J. Med. Genet. 140A:2721-2729.
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.
Zhang, H., et al. (2004). FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am. J. Med. Genet. 124A:280-287.
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Li P, Wood T, Thompson JN, Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene, Genetics in Medicine : Official Journal of the American College of Medical Genetics., 4(6):420-6, 2002
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM, Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation, Human Molecular Genetics, 10(3):291-9, February 2001
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J: Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. Eur J Med Genet. 2017 Apr 15; 2017 Apr 15. PMID: 28419882
Weed J, Gibson J, Lewis J, Carlson K, Foss F, Choi J, Li P, Girardi M: FISH Panel for Leukemic CTCL. J Invest Dermatol. 2017 Mar; 2016 Nov 8. PMID: 27836797
Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH: Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leuk Lymphoma. 2016 Dec; 2016 Apr 27. PMID: 27121023
Cui C, Shu W, Li P: Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications. Front Cell Dev Biol. 2016; 2016 Sep 5. PMID: 27656642
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P: Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. J Genet Genomics. 2016 Mar 20; 2016 Feb 13. PMID: 27020032
Wang Q, Wu W, Xu Z, Luo F, Zhou Q, Li P, Xie J: Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature. Mol Cytogenet. 2015; 2015 Dec 21. PMID: 26697114
Meng J, Matarese C, Crivello J, Wilcox K, Wang D, DiAdamo A, Xu F, Li P: Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center. Med Sci Monit. 2015 Jul 5; 2015 Jul 5. PMID: 26143093
Xu Z, Geng Q, Luo F, Xu F, Li P, Xie J: Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Mol Cytogenet. 2014; 2014 Dec 9. PMID: 25530804
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG: Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica. 2014 Sep; 2014 Jun 3. PMID: 24895341
Buza N, Xu F, Wu W, Carr RJ, Li P, Hui P: Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study. Hum Pathol. 2014 Sep; 2014 Jun 5. PMID: 25033729
Xu F, Li L, Schulz VP, Gallagher PG, Xiang B, Zhao H, Li P: Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. Mol Cytogenet. 2014 Jan 10; 2014 Jan 10. PMID: 24410907
Hoang D, Sue GR, Xu F, Li P, Narayan D: Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency. BMJ Case Rep. 2013 Feb 25; 2013 Feb 25. PMID: 23440991
Wei Y, Xu F, Li P: Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation. J Genet Genomics. 2013 Jan 20; 2012 Dec 27. PMID: 23357340
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