Výsledky vyhledávání - Weimin Bi
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Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 Autor Weimin Bi, Sung Sup Park, Christine J. Shaw, Marjorie Withers, Pragna I. Patel, James R. Lupski
Vydáno 2003Artigo -
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PRISMA-Compliant Article Autor Baoge Qu, Weimin Bi, Bao-Teng Qu, Tao Qu, Xinghai Han, Hui Wang, Yuan-Xun Liu, Yi-Guo Jia
Vydáno 2016Revisão -
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Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance Autor Katherina Walz, Sandra Caratini-Rivera, Weimin Bi, Patricia Fonseca, Dena L. Mansouri, Jennifer Lynch, Hannes Vogel, Jeffrey L. Noebels, Allan Bradley, James R. Lupski
Vydáno 2003Artigo -
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Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes Autor Weimin Bi, Jiong Yan, Xin Shi, Lisa A. Yuva‐Paylor, Barbara Antalffy, Alica M. Goldman, Jong W. Yoo, Jeffrey L. Noebels, Dawna L. Armstrong, Richard Paylor, James R. Lupski
Vydáno 2007Artigo -
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Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse Autor Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koenraad Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski
Vydáno 2002Artigo -
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? Autor Weimin Bi, Caroline Borgan, Amber N. Pursley, Patricia Hixson, Chad A. Shaw, Carlos A. Bacino, Seema R. Lalani, Ankita Patel, Paweł Stankiewicz, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung
Vydáno 2012Artigo -
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree Autor Claudia Soler‐Alfonso, Claudia M.B. Carvalho, Jun Ge, Erin K. Roney, Patricia I. Bader, Katarzyna Kołodziejska, Rachel Miller, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, Christian P. Schaaf
Vydáno 2014Artigo -
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Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans Autor Andrew J. Takeda, Yu Zhang, Gillian L. Dornan, Braden D. Siempelkamp, Meredith L. Jenkins, Helen Matthews, Joshua McElwee, Weimin Bi, Filiz O. Seeborg, Helen C. Su, John E. Burke, C. Lucas
Vydáno 2017Carta -
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles Autor Philip M. Boone, Ian M. Campbell, Brett Baggett, Zachry T. Soens, Mitchell M. Rao, Patricia Hixson, Ankita Patel, Weimin Bi, Sau Wai Cheung, Seema R. Lalani, Arthur L. Beaudet, Paweł Stankiewicz, Chad A. Shaw, James R. Lupski
Vydáno 2013Artigo -
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 Autor Shen Gu, Bo Yuan, Ian M. Campbell, Christine R. Beck, Claudia M.B. Carvalho, Sandesh C.S. Nagamani, Ayelet Erez, Ankita Patel, Carlos A. Bacino, Chad A. Shaw, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, James R. Lupski
Vydáno 2015Artigo -
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases Autor Justin Pham, Chad A. Shaw, Amber N. Pursley, Patricia Hixson, Srirangan Sampath, Erin K. Roney, Tomasz Gambin, Sung‐Hae Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, James R. Lupski, Paweł Stankiewicz, Ankita Patel, Sau-Wai Cheung
Vydáno 2014Artigo -
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6q22.1 microdeletion and susceptibility to pediatric epilepsy Autor Przemysław Szafrański, Gretchen K. Von Allmen, Brett H. Graham, Angus A. Wilfong, Sung‐Hae Kang, José Alexandre Ferreira, Sheila Upton, John B. Moeschler, Weimin Bi, Jill A. Rosenfeld, Lisa G. Shaffer, Sau Wai Cheung, Paweł Stankiewicz, Seema R. Lalani
Vydáno 2014Artigo -
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Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders Autor Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie
Vydáno 2019Artigo -
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Mechanisms for Complex Chromosomal Insertions Autor Shen Gu, Przemysław Szafrański, Zeynep Coban‐Akdemir, Bo Yuan, M. Lance Cooper, Maria A. Magriñá, Carlos A. Bacino, Seema R. Lalani, Amy M. Breman, Janice Smith, Ankita Patel, Rodger Song, Weimin Bi, Sau Wai Cheung, Claudia M.B. Carvalho, Paweł Stankiewicz, James R. Lupski
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Phenotype
Genome
Medicine
Copy-number variation
Chromosome
Gene duplication
Comparative genomic hybridization
Exome sequencing
Allele
Bioinformatics
Computational biology
Haploinsufficiency
Pathology
Exome
Disease
Internal medicine
Mutation
Gene expression
Genotype
Breakpoint
Human genetics
Intellectual disability
DNA
Exon
Gene family
Human genome
Psychiatry