检索结果 - Shaikh, Tamim H.

Copy Number Variation Disorders 由 Shaikh, Tamim H.

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Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns 由 Coughlin, Curtis R, Scharer, Gunter H, Shaikh, Tamim H

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Cis-acting influences on Alu RNA levels 由 Alemán, Claudina, Roy-Engel, Astrid M., Shaikh, Tamim H., Deininger, Prescott L.

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Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families 由 Shaikh, Tamim H., Budarf, Marcia L., Celle, Livija, Zackai, Elaine H., Emanuel, Beverly S.

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A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 由 Gotter, Anthony L., Shaikh, Tamim H., Budarf, Marcia L., Rhodes, C. Harker, Emanuel, Beverly S.

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Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes 由 Shaikh, Tamim H., Haldeman-Englert, Chad, Geiger, Elizabeth A., Ponting, Chris P., Webber, Caleb

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An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B 由 Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

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Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish 由 Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.

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22q11.2 Low Copy Repeats Expanded in the Human Lineage 由 Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Zjef, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H., Vermeesch, Joris R.

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Palindromic AT-Rich Repeat in the NF1 Gene Is Hypervariable in Humans and Evolutionarily Conserved in Primates 由 Inagaki, Hidehito, Ohye, Tamae, Kogo, Hiroshi, Yamada, Kouji, Kowa, Hiroe, Shaikh, Tamim H., Emanuel, Beverly S., Kurahashi, Hiroki

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Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) 由 Kurahashi, Hiroki, Shaikh, Tamim H., Zackai, Elaine H., Celle, Livija, Driscoll, Deborah A., Budarf, Marcia L., Emanuel, Beverly S.

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Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies 由 Goldmuntz, Elizabeth, Paluru, Prasuna, Glessner, Joseph, Hakonarson, Hakon, Biegel, Jaclyn A., White, Peter S., Gai, Xiaowu, Shaikh, Tamim H.

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Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans 由 Inagaki, Hidehito, Ohye, Tamae, Kogo, Hiroshi, Kato, Takema, Bolor, Hasbaira, Taniguchi, Mariko, Shaikh, Tamim H., Emanuel, Beverly S., Kurahashi, Hiroki

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Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue? 由 Gonzalez-Alegre, Pedro, Di Paola, Jorge, Wang, Kai, Fabbro, Shay, Yu, Hung-Chun, Shaikh, Tamim H., Darbro, Benjamin W., Bassuk, Alexander G.

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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression 由 Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.

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Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly 由 Hu, Tommy, Kruszka, Paul, Martinez, Ariel F., Ming, Jeffrey E., Shabason, Emily K., Raam, Manu S., Shaikh, Tamim H., Pineda-Alvarez, Daniel E., Muenke, Maximilian

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Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms 由 Shaikh, Tamim H., O’Connor, Ronald J., Pierpont, Mary Ella, McGrath, James, Hacker, April M., Nimmakayalu, Manjunath, Geiger, Elizabeth, Emanuel, Beverly S., Saitta, Sulagna C.

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Genomic analysis using high density SNP based oligonucleotide arrays and MLPA provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors 由 Jackson, Eric M., Sievert, Angela J., Gai, Xiaowu, Hakonarson, Hakon, Judkins, Alexander R, Tooke, Laura, Perin, Juan Carlos, Xie, Hongbo, Shaikh, Tamim H., Biegel, Jaclyn A.

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CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics 由 Gai, Xiaowu, Perin, Juan C, Murphy, Kevin, O'Hara, Ryan, D'arcy, Monica, Wenocur, Adam, Xie, Hongbo M, Rappaport, Eric F, Shaikh, Tamim H, White, Peter S

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Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans 由 Null, Megan, Yilmaz, Feyza, Astling, David, Yu, Hung-Chun, Cole, Joanne B., Hallgrímsson, Benedikt, Santorico, Stephanie A., Spritz, Richard A., Shaikh, Tamim H., Hendricks, Audrey E.

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