The Experts below are selected from a list of 285 Experts worldwide ranked by ideXlab platform
Danielle W Lu - One of the best experts on this subject based on the ideXlab platform.
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prevalence of high risk human papillomavirus dna in nonkeratinizing cylindrical cell carcinoma of the sinonasal tract a distinct clinicopathologic and Molecular Disease entity
The American Journal of Surgical Pathology, 2005Co-Authors: Samir K Elmofty, Danielle W LuAbstract:Abstract:Carcinomas of the nose and paranasal sinuses are a heterogeneous group of neoplasms that differ histologically, biologically, and clinically. Some of these tumors are known to harbor high-risk human papillomavirus (HPV) DNA. In an attempt to identify specific phenotypes associated with HPV
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prevalence of human papillomavirus type 16 dna in squamous cell carcinoma of the palatine tonsil and not the oral cavity in young patients a distinct clinicopathologic and Molecular Disease entity
The American Journal of Surgical Pathology, 2003Co-Authors: Samir K Elmofty, Danielle W LuAbstract:: Squamous cell carcinoma of the head and neck commonly affects patients in their sixth decade and older, particularly those with a prolonged history of alcohol and tobacco abuse. Less frequently, carcinomas occur in young individuals even in the absence of known risk factors. The purpose of this study is to investigate a possible relationship between these tumors and human papilloma virus (HPV). Thirty-three cases of squamous cell carcinoma of the head and neck in young patients under the age of 40 years were studied: 15 oral, 11 tonsillar, and 7 laryngeal. HPV DNA was detected by polymerase chain reaction in 10 tonsillar and 2 laryngeal carcinomas and in none of the oral tumors. Of the 12 HPV-positive tumors, 11 were HPV16 and 1 was HPV31. HPV-positive tumors had a distinct nonkeratinizing basal cell morphology, they stained diffusely and strongly with p16 antibodies, had higher Ki-67 and lower p53 staining scores as compared with the conventional keratinizing HPV negative carcinomas. It is concluded that in young patients high-risk HPV, particularly HPV16, is strongly associated with tonsillar squamous cell carcinoma and some cases of laryngeal, but not oral, tumors. The HPV-positive carcinomas have a distinct histopathologic and immunophenotypic features.
Frank G Holz - One of the best experts on this subject based on the ideXlab platform.
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clinical and genetic characteristics of 251 consecutive patients with macular and cone cone rod dystrophy
Scientific Reports, 2018Co-Authors: Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G HolzAbstract:Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of Disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions. Disease-causing mutations were identified in 74% of 251 consecutive MD/CCRD patients (33% of the variants were novel). Mutations in ABCA4, PRPH2 and BEST1 accounted for 57% of Disease cases. Further mutations were identified in CDHR1, GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR. We provide detailed illustrations of rare phenotypes, including autofluorescence and optical coherence tomography imaging. Targeted NGS also identified six potential novel genotype-phenotype correlations for FAM161A, INPP5E, MERTK, FBLN5, SEMA4A and IMPDH1. Clinical reassessment of genetically unsolved patients revealed subgroups with similar retinal phenotype, indicating a common Molecular Disease cause in each subgroup.
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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Nature Publishing Group, 2018Co-Authors: Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G HolzAbstract:Abstract Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of Disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions. Disease-causing mutations were identified in 74% of 251 consecutive MD/CCRD patients (33% of the variants were novel). Mutations in ABCA4, PRPH2 and BEST1 accounted for 57% of Disease cases. Further mutations were identified in CDHR1, GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR. We provide detailed illustrations of rare phenotypes, including autofluorescence and optical coherence tomography imaging. Targeted NGS also identified six potential novel genotype-phenotype correlations for FAM161A, INPP5E, MERTK, FBLN5, SEMA4A and IMPDH1. Clinical reassessment of genetically unsolved patients revealed subgroups with similar retinal phenotype, indicating a common Molecular Disease cause in each subgroup
Samir K Elmofty - One of the best experts on this subject based on the ideXlab platform.
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prevalence of high risk human papillomavirus dna in nonkeratinizing cylindrical cell carcinoma of the sinonasal tract a distinct clinicopathologic and Molecular Disease entity
The American Journal of Surgical Pathology, 2005Co-Authors: Samir K Elmofty, Danielle W LuAbstract:Abstract:Carcinomas of the nose and paranasal sinuses are a heterogeneous group of neoplasms that differ histologically, biologically, and clinically. Some of these tumors are known to harbor high-risk human papillomavirus (HPV) DNA. In an attempt to identify specific phenotypes associated with HPV
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prevalence of human papillomavirus type 16 dna in squamous cell carcinoma of the palatine tonsil and not the oral cavity in young patients a distinct clinicopathologic and Molecular Disease entity
The American Journal of Surgical Pathology, 2003Co-Authors: Samir K Elmofty, Danielle W LuAbstract:: Squamous cell carcinoma of the head and neck commonly affects patients in their sixth decade and older, particularly those with a prolonged history of alcohol and tobacco abuse. Less frequently, carcinomas occur in young individuals even in the absence of known risk factors. The purpose of this study is to investigate a possible relationship between these tumors and human papilloma virus (HPV). Thirty-three cases of squamous cell carcinoma of the head and neck in young patients under the age of 40 years were studied: 15 oral, 11 tonsillar, and 7 laryngeal. HPV DNA was detected by polymerase chain reaction in 10 tonsillar and 2 laryngeal carcinomas and in none of the oral tumors. Of the 12 HPV-positive tumors, 11 were HPV16 and 1 was HPV31. HPV-positive tumors had a distinct nonkeratinizing basal cell morphology, they stained diffusely and strongly with p16 antibodies, had higher Ki-67 and lower p53 staining scores as compared with the conventional keratinizing HPV negative carcinomas. It is concluded that in young patients high-risk HPV, particularly HPV16, is strongly associated with tonsillar squamous cell carcinoma and some cases of laryngeal, but not oral, tumors. The HPV-positive carcinomas have a distinct histopathologic and immunophenotypic features.
H F Bunn - One of the best experts on this subject based on the ideXlab platform.
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Pathogenesis and Treatment of Sickle Cell Disease
The New England journal of medicine, 1997Co-Authors: H F BunnAbstract:In 1949, the discovery that sickle hemoglobin (α2 βS2) has an abnormal electrophoretic mobility prompted Linus Pauling and his colleagues to christen sickle cell anemia “a Molecular Disease.”1 The ensuing five decades have produced a wealth of information on the mechanisms by which a single base substitution in the gene encoding the human β-globin subunit, with the resulting replacement of β6 glutamic acid by valine, leads to the protean and devastating clinical manifestations of sickle cell Disease. Until recently there was a disappointing lag in the application of this knowledge to the design of safe and effective . . .
Johannes Birtel - One of the best experts on this subject based on the ideXlab platform.
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clinical and genetic characteristics of 251 consecutive patients with macular and cone cone rod dystrophy
Scientific Reports, 2018Co-Authors: Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G HolzAbstract:Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of Disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions. Disease-causing mutations were identified in 74% of 251 consecutive MD/CCRD patients (33% of the variants were novel). Mutations in ABCA4, PRPH2 and BEST1 accounted for 57% of Disease cases. Further mutations were identified in CDHR1, GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR. We provide detailed illustrations of rare phenotypes, including autofluorescence and optical coherence tomography imaging. Targeted NGS also identified six potential novel genotype-phenotype correlations for FAM161A, INPP5E, MERTK, FBLN5, SEMA4A and IMPDH1. Clinical reassessment of genetically unsolved patients revealed subgroups with similar retinal phenotype, indicating a common Molecular Disease cause in each subgroup.
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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Nature Publishing Group, 2018Co-Authors: Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G HolzAbstract:Abstract Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of Disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions. Disease-causing mutations were identified in 74% of 251 consecutive MD/CCRD patients (33% of the variants were novel). Mutations in ABCA4, PRPH2 and BEST1 accounted for 57% of Disease cases. Further mutations were identified in CDHR1, GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR. We provide detailed illustrations of rare phenotypes, including autofluorescence and optical coherence tomography imaging. Targeted NGS also identified six potential novel genotype-phenotype correlations for FAM161A, INPP5E, MERTK, FBLN5, SEMA4A and IMPDH1. Clinical reassessment of genetically unsolved patients revealed subgroups with similar retinal phenotype, indicating a common Molecular Disease cause in each subgroup