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Results: 1-9 |
Results: 9
Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis
Authors: Li, MM Howard-Peebles, PN Killos, LD Fallon, L Listgarten, E Stanley, WS
Citation: Mm. Li et al., Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis, PRENAT DIAG, 20(2), 2000, pp. 138-143
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Authors: Penaherrera, MS Barrett, IJ Brown, CJ Langlois, S Yong, SL Lewis, S Bruyere, H Howard-Peebles, PN Kalousek, DK Robinson, WP
Citation: Ms. Penaherrera et al., An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta, CLIN GENET, 58(6), 2000, pp. 436-446
Survey of the fragile X syndrome CGG repeat and the short-tendem-repeat and single-nucleotide-polymorphism haplotypes in an African American population
Authors: Crawford, DC Schwartz, CE Meadows, KL Newman, JL Taft, LF Gunter, C Brown, WT Carpenter, NJ Howard-Peebles, PN Monaghan, KG Nolin, SL Reiss, AL Feldman, GL Rohlfs, EM Warren, ST Sherman, SL
Citation: Dc. Crawford et al., Survey of the fragile X syndrome CGG repeat and the short-tendem-repeat and single-nucleotide-polymorphism haplotypes in an African American population, AM J HU GEN, 66(2), 2000, pp. 480-493
Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)
Authors: Driggers, RW Macri, CJ Greenwald, J Carpenter, D Avallone, J Howard-Peebles, PN Levin, SW
Citation: Rw. Driggers et al., Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2), AM J MED G, 87(3), 1999, pp. 201-202
Age-related language characteristics of children and adolescents with fragile X syndrome
Authors: Fisch, GS Holden, JJK Carpenter, NJ Howard-Peebles, PN Maddalena, A Pandya, A Nance, W
Citation: Gs. Fisch et al., Age-related language characteristics of children and adolescents with fragile X syndrome, AM J MED G, 83(4), 1999, pp. 253-256
Longitudinal assessment of adaptive and maladaptive behaviors in fragile Xmales: Growth, development, and profiles
Authors: Fisch, GS Carpenter, NJ Holden, JJA Simensen, R Howard-Peebles, PN Maddalena, A Pandya, A Nance, W
Citation: Gs. Fisch et al., Longitudinal assessment of adaptive and maladaptive behaviors in fragile Xmales: Growth, development, and profiles, AM J MED G, 83(4), 1999, pp. 257-263
Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis
Authors: Fisch, GS Carpenter, N Holden, JJA Howard-Peebles, PN Maddalena, A Borghgraef, M Steyaert, J Fryns, JP
Citation: Gs. Fisch et al., Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis, AM J MED G, 83(4), 1999, pp. 308-312
Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data
Authors: Allingham-Hawkins, SJ Babul-Hirji, R Chitayat, D Holden, JJA Yang, KT Lee, C Hudson, R Gorwill, H Nolin, SL Glicksman, A Jenkins, EC Brown, WT Howard-Peebles, PN Becchi, C Cummings, E Fallon, L Seitz, S Black, SH Vianna-Morgante, AM Costa, SS Otto, PA Mingroni-Netto, RC Murray, A Webb, J MacSwinney, F Dennis, N Jacobs, PA Syrrou, M Georgiou, I Patsalis, PC Uzielli, MLG Guarducci, S Lapi, E Cecconi, A Ricci, U
Citation: Sj. Allingham-hawkins et al., Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data, AM J MED G, 83(4), 1999, pp. 322-325
Fragile X - From cytogenetics to molecular genetics
Authors: Howard-Peebles, PN
Citation: Pn. Howard-peebles, Fragile X - From cytogenetics to molecular genetics, PRINCIPLES OF CLINICAL CYTOGENETICS, 1999, pp. 425-442
Risultati: 1-9 |