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Results: 1-7 |
Results: 7
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
Authors: Osborne, LR Li, M Pober, B Chitayat, D Bodurtha, J Mandel, A Costa, T Grebe, T Cox, S Tsui, LC Scherer, SW
Citation: Lr. Osborne et al., A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome, NAT GENET, 29(3), 2001, pp. 321-325
Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome
Authors: Osborne, L Pober, B
Citation: L. Osborne et B. Pober, Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome, J AM A CHIL, 40(6), 2001, pp. 732-735
Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships
Authors: Schultz, RT Grelotti, DJ Pober, B
Citation: Rt. Schultz et al., Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships, J AM A CHIL, 40(5), 2001, pp. 606-609
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Authors: Marsh, DJ Kum, JB Lunetta, KL Bennett, MJ Gorlin, RJ Ahmed, SF Bodurtha, J Crowe, C Curtis, MA Dasouki, M Dunn, T Feit, H Geraghty, MT Graham, JM Hodgson, SV Hunter, A Korf, BR Manchester, D Miesfeldt, S Murday, VA Nathanson, KL Parisi, M Pober, B Romano, C Tolmie, JL Trembath, R Winter, RM Zackai, EH Zori, RT Weng, LP Dahia, PLM Eng, C
Citation: Dj. Marsh et al., PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome, HUM MOL GEN, 8(8), 1999, pp. 1461-1472
KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs
Authors: Piccini, M Vitelli, F Seri, M Galietta, LJV Moran, O Bulfone, A Banfi, S Pober, B Renieri, A
Citation: M. Piccini et al., KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs, GENOMICS, 60(3), 1999, pp. 251-257
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME)
Authors: Vitelli, F Piccini, M Caroli, F Franco, B Malandrini, A Pober, B Jonsson, O Sorrentino, V Renieri, A
Citation: F. Vitelli et al., Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME), GENOMICS, 55(3), 1999, pp. 335-340
Elevated ambulatory blood pressure in 20 subjects with Williams syndrome
Authors: Broder, K Reinhardt, E Ahern, JA Lifton, R Tamborlane, W Pober, B
Citation: K. Broder et al., Elevated ambulatory blood pressure in 20 subjects with Williams syndrome, AM J MED G, 83(5), 1999, pp. 356-360
Risultati: 1-7 |