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Results: 1-21 |
Results: 21
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome
Authors: Smith, AC Squire, JA Thorner, P Zielenska, M Shuman, C Grant, R Chitayat, D Nishikawa, JL Weksberg, R
Citation: Ac. Smith et al., Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome, PEDIATR D P, 4(6), 2001, pp. 550-558
Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia
Authors: Lazier, K Chow, EWC AbdelMalik, P Scutt, LE Weksberg, R Bassett, AS
Citation: K. Lazier et al., Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia, SCHIZOPHR R, 50(3), 2001, pp. 177-180
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations (vol 74, pg 370, 2001)
Authors: Li, M Squire, J Shuman, C Fei, YL Atkin, J Pauli, R Smith, A Nishikawa, J Chitayat, D Weksberg, R
Citation: M. Li et al., Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations (vol 74, pg 370, 2001), GENOMICS, 77(1-2), 2001, pp. 115-115
Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
Authors: Li, M Squire, J Shuman, C Atkin, J Pauli, R Smith, A Chitayat, D Weksberg, R
Citation: M. Li et al., Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations, GENOMICS, 74(3), 2001, pp. 370-376
Patterns of dysmorphic features in schizophrenia
Authors: Scutt, LE Chow, EWC Weksberg, R Honer, WG Bassett, AS
Citation: Le. Scutt et al., Patterns of dysmorphic features in schizophrenia, AM J MED G, 105(8), 2001, pp. 713-723
Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome
Authors: Barr, CL Best, L Weksberg, R
Citation: Cl. Barr et al., Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome, AM J MED G, 104(2), 2001, pp. 120-126
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
Authors: Li, M Shuman, C Fei, YL Cutiongco, E Bender, HA Stevens, C Wilkins-Haug, L Day-Salvatore, D Yong, SL Geraghty, MT Squire, J Weksberg, R
Citation: M. Li et al., GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome, AM J MED G, 102(2), 2001, pp. 161-168
Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome
Authors: Squire, JA Li, M Perlikowski, S Fei, YL Bayani, J Zhang, ZM Weksberg, R
Citation: Ja. Squire et al., Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome, GENOMICS, 65(3), 2000, pp. 234-242
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
Authors: Boerkoel, CF O'Neill, S Andre, JL Benke, PJ Bogdanovic, R Bulla, M Burguet, A Cockfield, S Cordeiro, I Ehrich, JHH Frund, S Geary, DF Ieshima, A Illies, F Joseph, MW Kaitila, I Lama, G Leheup, B Ludman, MD McLeod, DR Medeira, A Milford, DV Ormala, T Rener-Primec, Z Santava, A Santos, HG Schmidt, B Smith, GC Spranger, J Zupancic, N Weksberg, R
Citation: Cf. Boerkoel et al., Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature, EUR J PED, 159(1-2), 2000, pp. 1-7
Chromosomal abnormalities and schizophrenia
Authors: Bassett, AS Chow, EWC Weksberg, R
Citation: As. Bassett et al., Chromosomal abnormalities and schizophrenia, AM J MED G, 97(1), 2000, pp. 45-51
Analphoid 3qter markers
Authors: Teshima, I Bawle, EV Weksberg, R Shuman, C Van Dyke, DL Schwartz, S
Citation: I. Teshima et al., Analphoid 3qter markers, AM J MED G, 94(2), 2000, pp. 113-119
Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome
Authors: Everman, DB Shuman, C Dzolganovski, B O'Riordan, MA Weksberg, R Robin, NH
Citation: Db. Everman et al., Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome, J PEDIAT, 137(1), 2000, pp. 123-127
Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescence
Authors: Tsugu, A Sakai, K Dirks, PB Jung, S Weksberg, R Fei, YL Mondal, S Ivanchuk, S Ackerley, C Hamel, PA Rutka, JT
Citation: A. Tsugu et al., Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescence, AM J PATH, 157(3), 2000, pp. 919-932
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein
Authors: Hinek, A Smith, AC Cutiongco, EM Callahan, JW Gripp, KW Weksberg, R
Citation: A. Hinek et al., Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein, AM J HU GEN, 66(3), 2000, pp. 859-872
Alstrom syndrome: further evidence for linkage to human chromosome 2p13
Authors: Collin, GB Marshall, JD Boerkoel, CF Levin, AV Weksberg, R Greenberg, J Michaud, JL Naggert, JK Nishina, PM
Citation: Gb. Collin et al., Alstrom syndrome: further evidence for linkage to human chromosome 2p13, HUM GENET, 105(5), 1999, pp. 474-479
Phenotype of adults with the 22q11 deletion syndrome: A review
Authors: Cohen, E Chow, EWC Weksberg, R Bassett, AS
Citation: E. Cohen et al., Phenotype of adults with the 22q11 deletion syndrome: A review, AM J MED G, 86(4), 1999, pp. 359-365
Proteus syndrome: Diagnostic criteria, differential diagnosis, and patientevaluation
Authors: Biesecker, LG Happle, R Mulliken, JB Weksberg, R Graham, JM Viljoen, DL Cohen, MM
Citation: Lg. Biesecker et al., Proteus syndrome: Diagnostic criteria, differential diagnosis, and patientevaluation, AM J MED G, 84(5), 1999, pp. 389-395
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome
Authors: Lin, AE Neri, G Hughes-Benzie, R Weksberg, R
Citation: Ae. Lin et al., Cardiac anomalies in the Simpson-Golabi-Behmel syndrome, AM J MED G, 83(5), 1999, pp. 378-381
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
Authors: Smilinich, NJ Day, CD Fitzpatrick, GV Caldwell, GM Lossie, AC Cooper, PR Smallwood, AC Joyce, JA Schofield, PN Reik, W Nicholls, RD Weksberg, R Driscoll, DJ Maher, ER Shows, TB Higgins, MJ
Citation: Nj. Smilinich et al., A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome, P NAS US, 96(14), 1999, pp. 8064-8069
Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia
Authors: Chow, EWC Mikulis, DJ Zipursky, RB Scutt, LE Weksberg, R Bassett, AS
Citation: Ewc. Chow et al., Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia, BIOL PSYCHI, 46(10), 1999, pp. 1436-1442
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome
Authors: Brzustowicz, LM Farrell, S Khan, MB Weksberg, R
Citation: Lm. Brzustowicz et al., Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome, AM J HU GEN, 65(3), 1999, pp. 779-783
Risultati: 1-21 |