檢索結果 - Bi, Weimin

Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike 由 Yan, Jiong, Bi, Weimin, Lupski, James R.

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Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2 由 Shaw, Christine J., Bi, Weimin, Lupski, James R.

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Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2) 由 Walz, Katherina, Paylor, Richard, Yan, Jiong, Bi, Weimin, Lupski, James R.

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Quantitative Assessment of Parental Somatic Mosaicism for CNV Deletions 由 Liu, Qian, Grochowski, Christopher M., Bi, Weimin, Lupski, James R., Stankiewicz, Paweł

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A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature 由 Manor, Joshua, Daniela, Dinu, Azamian, Mahshid S., Bi, Weimin, Darilek, Sandra, Lalani, Seema R.

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Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome 由 Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A., Lupski, James R., O'Driscoll, Mark

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Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood 由 Pal, Chandni V., Eble, Tanya N., Burnside, Rachel D., Bi, Weimin, Patel, Ankita, Franco, Luis M.

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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child 由 Streff, Haley, Bi, Weimin, Miyake, Christina Y., Colón, Athos G., Adesina, Adekunle M., Lalani, Seema R.

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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 由 Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.

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Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs 由 Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, Birren, Bruce, Lupski, James R.

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Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization 由 Bi, Weimin, Huang, Wendong, Whitworth, Deanne J., Deng, Jian Min, Zhang, Zhaoping, Behringer, Richard R., de Crombrugghe, Benoit

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Aneuploidy as a mechanism for stress-induced liver adaptation 由 Duncan, Andrew W., Hanlon Newell, Amy E., Bi, Weimin, Finegold, Milton J., Olson, Susan B., Beaudet, Arthur L., Grompe, Markus

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LMOD2-related dilated cardiomyopathy presenting in late infancy 由 Lay, Erica, Azamian, Mahshid S., Denfield, Susan W., Dreyer, William, Spinner, Joseph A., Kearney, Debra, Zhang, Lilei, Worley, Kim, Bi, Weimin, Lalani, Seema R.

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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 由 Walz, Katherina, Caratini-Rivera, Sandra, Bi, Weimin, Fonseca, Patricia, Mansouri, Dena L., Lynch, Jennifer, Vogel, Hannes, Noebels, Jeffrey L., Bradley, Allan, Lupski, James R.

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A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men 由 Lacaria, Melanie, Saha, Pradip, Potocki, Lorraine, Bi, Weimin, Yan, Jiong, Girirajan, Santhosh, Burns, Brooke, Elsea, Sarah, Walz, Katherina, Chan, Lawrence, Lupski, James R., Gu, Wenli

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Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances than Array-Comparative Ge... 由 Yatsenko, Svetlana A., Shaw, Chad A., Ou, Zhishuo, Pursley, Amber N., Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lupski, James R., Chinault, A. Craig, Beaudet, Arthur L.

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19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias 由 Gana, Simone, Veggiotti, Pierangelo, Sciacca, Giusy, Fedeli, Cristina, Bersano, Anna, Micieli, Giuseppe, Maghnie, Mohamad, Ciccone, Roberto, Rossi, Elena, Plunkett, Katie, Bi, Weimin, Sutton, Vernon R, Zuffardi, Orsetta

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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly and pigmentary abnormalities 由 Leduc, Magalie S., Niu, Zhiyv, Bi, Weimin, Zhu, Wenmiao, Miloslavskaya, Irene, Chiang, Theodore, Streff, Haley, Seavitt, John R., Murray, Steve, Eng, Christine, Chan, Audrey, Yang, Yaping, Lalani, Seema R.

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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients 由 Wang, Lei, Liu, Pengfei, Bi, Weimin, Sim, Teresa, Wang, Xia, Walkiewicz, Magdalene, Leduc, Magalie Sophie, Meng, Linyan, Xia, Fan, Eng, Christine M., Yang, Yaping, Yuan, Bo, Dai, Hongzheng

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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 由 Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., Potocki, Lorraine, Shaffer, Lisa G., Devriendt, Koen, Nowaczyk, Małgorzata J.M., Inoue, Ken, Lupski, James R.

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