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Results: 1-25 |
Results: 25
Segmental duplications: An 'expanding' role in genomic instability and disease
Authors: Emanuel, BS Shaikh, TH
Citation: Bs. Emanuel et Th. Shaikh, Segmental duplications: An 'expanding' role in genomic instability and disease, NAT REV GEN, 2(10), 2001, pp. 791-800
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis
Authors: Gripp, KW Kasparcova, V McDonald-McGinn, DM Bhatt, S Bartlett, SP Storm, AL Drumheller, TC Emanuel, BS Zackai, EH Stolle, CA
Citation: Kw. Gripp et al., A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis, GENET MED, 3(2), 2001, pp. 102-108
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review
Authors: Shaikh, TH Kurahashi, H Emanuel, BS
Citation: Th. Shaikh et al., Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review, GENET MED, 3(1), 2001, pp. 6-13
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
Authors: McDonald-McGinn, DM Tonnesen, MK Laufer-Cahana, A Finucane, B Driscoll, DA Emanuel, BS Zackai, EH
Citation: Dm. Mcdonald-mcginn et al., Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!, GENET MED, 3(1), 2001, pp. 23-29
Unexpected high rate of de novo constitutional t(11;22) translocations in sperm from normal males
Authors: Kurahashi, H Emanuel, BS
Citation: H. Kurahashi et Bs. Emanuel, Unexpected high rate of de novo constitutional t(11;22) translocations in sperm from normal males, NAT GENET, 29(2), 2001, pp. 139-140
Long AT-rich palindromes and the constitutional t(11;22) breakpoint
Authors: Kurahashi, H Emanuel, BS
Citation: H. Kurahashi et Bs. Emanuel, Long AT-rich palindromes and the constitutional t(11;22) breakpoint, HUM MOL GEN, 10(23), 2001, pp. 2605-2617
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome:genomic organization and deletion endpoint analysis
Authors: Shaikh, TH Kurahashi, H Saitta, SC O'Hare, AM Hu, P Roe, BA Driscoll, DA McDonald-McGinn, DM Zackai, EH Budarf, ML Emanuel, BS
Citation: Th. Shaikh et al., Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome:genomic organization and deletion endpoint analysis, HUM MOL GEN, 9(4), 2000, pp. 489-501
Alu-mediated PCR artifacts and the constitutional t(11 ; 22) breakpoint
Authors: Kurahashi, H Shaikh, TH Emanuel, BS
Citation: H. Kurahashi et al., Alu-mediated PCR artifacts and the constitutional t(11 ; 22) breakpoint, HUM MOL GEN, 9(18), 2000, pp. 2727-2732
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
Authors: Kurahashi, H Shaikh, TH Hu, P Roe, BA Emanuel, BS Budarf, ML
Citation: H. Kurahashi et al., Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22), HUM MOL GEN, 9(11), 2000, pp. 1665-1670
Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2
Authors: Lund, J Chen, F Hua, A Roe, B Budarf, M Emanuel, BS Reeves, RH
Citation: J. Lund et al., Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2, GENOMICS, 63(3), 2000, pp. 374-383
Structural analysis of the human pro-apoptotic gene Bik: Chromosomal localization, genomic organization and localization of promoter sequences
Authors: Verma, S Budarf, ML Emanuel, BS Chinnadurai, G
Citation: S. Verma et al., Structural analysis of the human pro-apoptotic gene Bik: Chromosomal localization, genomic organization and localization of promoter sequences, GENE, 254(1-2), 2000, pp. 157-162
Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow
Authors: Eicher, PS McDonald-McGinn, DM Fox, CA Driscoll, DA Emanuel, BS Zackai, EH
Citation: Ps. Eicher et al., Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow, J PEDIAT, 137(2), 2000, pp. 158-164
Communication disorders in the 22q11.2 microdeletion syndrome
Authors: Solot, CB Knightly, C Handler, SD Gerdes, M McDonald-McGinn, DM Moss, E Wang, P Cohen, M Randall, P Larossa, D Driscoll, DA Emanuel, BS Zackai, EH
Citation: Cb. Solot et al., Communication disorders in the 22q11.2 microdeletion syndrome, J COMM DIS, 33(3), 2000, pp. 187-204
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
Authors: Kurahashi, H Shaikh, TH Zackai, EH Celle, L Driscoll, DA Budarf, ML Emanuel, BS
Citation: H. Kurahashi et al., Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22), AM J HU GEN, 67(3), 2000, pp. 763-768
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome
Authors: Hodes, ME Woodward, K Spinner, NB Emanuel, BS Enrico-Simon, A Kamholz, J Stambolian, D Zackai, EH Pratt, VM Thomas, IT Crandall, K Dlouhy, SR Malcolm, S
Citation: Me. Hodes et al., Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome, AM J HU GEN, 67(1), 2000, pp. 14-22
Longitudinal analysis of lymphocyte function and numbers in the first yearof life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
Authors: Sullivan, KE McDonald-McGinn, D Driscoll, DA Emanuel, BS Zackai, EH Jawad, AF
Citation: Ke. Sullivan et al., Longitudinal analysis of lymphocyte function and numbers in the first yearof life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome), CL DIAG LAB, 6(6), 1999, pp. 906-911
Sequence-ready physical map of the mouse Chromosome 16 region with conserved synteny to the human Velocardiofacial syndrome region on 22q11.2
Authors: Lund, J Roe, B Chen, F Budarf, M Galili, N Riblet, R Miller, RD Emanuel, BS Reeves, RH
Citation: J. Lund et al., Sequence-ready physical map of the mouse Chromosome 16 region with conserved synteny to the human Velocardiofacial syndrome region on 22q11.2, MAMM GENOME, 10(5), 1999, pp. 438-443
Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development
Authors: Shaikh, TH Gottlieb, S Sellinger, B Chen, F Roe, BA Oakey, RJ Emanuel, BS Budarf, ML
Citation: Th. Shaikh et al., Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development, MAMM GENOME, 10(3), 1999, pp. 322-326
Guidelines for 22q11 deletion screening of patients with conotruncal defects - Reply
Authors: Goldmuntz, E Clark, BJ Mitchell, LE Cuneo, BF McDonald-McGinn, D Zackair, EH Emanuel, BS Driscoll, DA
Citation: E. Goldmuntz et al., Guidelines for 22q11 deletion screening of patients with conotruncal defects - Reply, J AM COL C, 33(6), 1999, pp. 1747-1748
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
Authors: Gerdes, M Solot, C Wang, PP Moss, E LaRossa, D Randall, P Goldmuntz, E Clark, BJ Driscoll, DA Jawad, A Emanuel, BS McDonald-McGinn, DM Batshaw, ML Zackai, EH
Citation: M. Gerdes et al., Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion, AM J MED G, 85(2), 1999, pp. 127-133
The DNA sequence of human chromosome 22
Authors: Dunham, I Shimizu, N Roe, BA Chissoe, S Dunham, I Hunt, AR Collins, JE Bruskiewich, R Beare, DM Clamp, M Smink, LJ Ainscough, R Almeida, JP Babbage, A Bagguley, C Balley, J Barlow, K Bates, KN Beasley, O Bird, CP Blakey, S Bridgeman, AM Buck, D Burgess, J Burrill, WD Burton, J Carder, C Carter, NP Chen, Y Clark, G Clegg, SM Cobley, V Cole, CG Collier, RE Connor, RE Conroy, D Corby, N Coville, GJ Cox, AV Davis, J Dawson, E Dhami, PD Dockree, C Dodsworth, SJ Durbin, RM Ellington, A Evans, KL Fey, JM Fleming, K French, L Garner, AA Gilbert, JGR Goward, ME Grafham, D Griffiths, MN Hall, C Hall, R Hall-Tamlyn, G Heathcott, RW Ho, S Holmes, S Hunt, SE Jones, MC Kershaw, J Kimberley, A King, A Laird, GK Langford, CF Leversha, MA Lloyd, C Lloyd, DM Martyn, ID Mashreghi-Mohammadi, M Matthews, L McCann, OT McClay, J McLaren, S McMurray, AA Milne, SA Mortimore, BJ Odell, CN Pavitt, R Pearce, AV Pearson, D Phillimore, BJ Phillips, SH Plumb, RW Ramsay, H Ramsey, Y Rogers, L Ross, MT Scott, CE Sehra, HK Skuce, CD Smalley, S Smith, ML Soderlund, C Spragon, L Steward, CA Sulston, JE Swann, RM Vaudin, M Wall, M Wallis, JM Whiteley, MN Willey, D Williams, L Williams, S Williamson, H Wilmer, TE Wilming, L Wright, CL Hubbard, T Bentley, DR Beck, S Rogers, J Shimizu, N Minoshima, S Kawasaki, K Sasaki, T Asakawa, S Kudoh, J Shintani, A Shibuya, K Yoshizaki, Y Aoki, N Mitsuyama, S Roe, BA Chen, F Chu, L Crabtree, J Deschamps, S Do, A Do, T Dorman, A Fang, F Fu, Y Hu, P Hua, A Kenton, S Lai, H Lao, HI Lewis, J Lewis, S Lin, SP Loh, P Malaj, E Nguyen, T Pan, H Phan, S Qi, S Qian, Y Ray, L Ren, Q Shaull, S Sloan, D Song, L Wang, Q Wang, Y Wang, Z White, J Willingham, D Wu, H Yao, Z Zhan, M Zhang, G Chissoe, S Murray, J Miller, N Minx, P Fulton, R Johnson, D Bemis, G Bentley, D Bradshaw, H Bourne, S Cordes, M Du, Z Fulton, L Goela, D Graves, T Hawkins, J Hinds, K Kemp, K Latreille, P Layman, D Ozersky, P Rohlfing, T Scheet, P Walker, C Wamsley, A Wohldmann, P Pepin, K Nelson, J Korf, I Bedell, JA Hillier, L Mardis, E Waterston, R Wilson, R Emanuel, BS Shaikh, T Kurahashi, H Saitta, S Budarf, ML McDermid, HE Johnson, A Wong, ACC Morrow, BE Edelman, L Kim, UJ Shizuya, H Simon, MI Dumanski, JP Peyrard, M Kedra, D Seroussi, E Fransson, I Tapia, I Bruder, CE O'Brien, KP
Citation: I. Dunham et al., The DNA sequence of human chromosome 22, NATURE, 402(6761), 1999, pp. 489-495
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
Authors: Moss, EM Batshaw, ML Solot, CB Gerdes, M McDonald-McGinn, DM Driscoll, DA Emanuel, BS Zackai, EH Wang, PP
Citation: Em. Moss et al., Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern, J PEDIAT, 134(2), 1999, pp. 193-198
Microdeletion 22q11.2: clinical data and deletion size
Authors: Kerstjens-Frederikse, WS Kurahashi, H Driscoll, DA Budarf, ML Emanuel, BS Beatty, B Scheidl, T Siegel-Bartelt, J Henderson, K Cytrynbaum, C Nie, G Teshima, I
Citation: Ws. Kerstjens-frederikse et al., Microdeletion 22q11.2: clinical data and deletion size, J MED GENET, 36(9), 1999, pp. 721-723
Clustered 11q23 and 22q11 breakpoints and 3 : 1 meiotic malsegregation in multiple unrelated t(11;22) families
Authors: Shaikh, TH Budarf, ML Celle, L Zackai, EH Emanuel, BS
Citation: Th. Shaikh et al., Clustered 11q23 and 22q11 breakpoints and 3 : 1 meiotic malsegregation in multiple unrelated t(11;22) families, AM J HU GEN, 65(6), 1999, pp. 1595-1607
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects
Authors: Saitta, SC McGrath, JM Mensch, H Shaikh, TH Zackai, EH Emanuel, BS
Citation: Sc. Saitta et al., A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects, AM J HU GEN, 65(2), 1999, pp. 562-566
Risultati: 1-25 |