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Results: 1-13 |
Results: 13
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
Authors: Rosenberg, MJ Killoran, C Dziadzio, L Chang, S Stone, DL Meck, J Aughton, D Bird, LM Bodurtha, J Cassidy, SB Graham, JM Grix, A Guttmacher, AE Hudgins, L Kozma, C Michaelis, RC Pauli, R Peters, KF Rosenbaum, KN Tifft, CJ Wargowski, D Williams, MS Biesecker, LG
Citation: Mj. Rosenberg et al., Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations, HUM GENET, 109(3), 2001, pp. 311-318
The changing purpose of Prader-Willi syndrome clinical diagnostic criteriaand proposed revised criteria
Authors: Gunay-Aygun, M Schwartz, S Heeger, S O'Riordan, MA Cassidy, SB
Citation: M. Gunay-aygun et al., The changing purpose of Prader-Willi syndrome clinical diagnostic criteriaand proposed revised criteria, PEDIATRICS, 108(5), 2001, pp. NIL_93-NIL_97
Prader-Willi syndrome in the new millenium - Introduction
Authors: Cassidy, SB
Citation: Sb. Cassidy, Prader-Willi syndrome in the new millenium - Introduction, ENDOCRINOLO, 10(4), 2000, pp. 1S-2S
Clinical and laboratory diagnosis of Prader-Willi syndrome
Authors: Cassidy, SB
Citation: Sb. Cassidy, Clinical and laboratory diagnosis of Prader-Willi syndrome, ENDOCRINOLO, 10(4), 2000, pp. 17S-21S
Genetics of childhood disorders: XII. Genomic imprinting: Breaking the rules
Authors: Everman, DB Cassidy, SB
Citation: Db. Everman et Sb. Cassidy, Genetics of childhood disorders: XII. Genomic imprinting: Breaking the rules, J AM A CHIL, 39(3), 2000, pp. 386-389
Prader-Willi and Angelman Syndromes: Sister imprinted disorders
Authors: Cassidy, SB Dykens, E Williams, CA
Citation: Sb. Cassidy et al., Prader-Willi and Angelman Syndromes: Sister imprinted disorders, AM J MED G, 97(2), 2000, pp. 136-146
Molecular refinement of karyotype: Beyond the cytogenetic band
Authors: Sirko-Osadsa, DA Cassidy, SB Depinet, TW Robin, NH Limwongse, C Schwartz, S
Citation: Da. Sirko-osadsa et al., Molecular refinement of karyotype: Beyond the cytogenetic band, GENET MED, 1(6), 1999, pp. 254-261
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
Authors: Dykens, EM Cassidy, SB King, BH
Citation: Em. Dykens et al., Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy, AM J MENT R, 104(1), 1999, pp. 67-77
Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl
Authors: Kumar, A Cassidy, SB Romero, L Schwartz, S
Citation: A. Kumar et al., Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl, AM J MED G, 86(3), 1999, pp. 227-231
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
Authors: Amos-Landgraf, JM Ji, YG Gottlieb, W Depinet, T Wandstrat, AE Cassidy, SB Driscoll, DJ Rogan, PK Schwartz, S Nicholls, RD
Citation: Jm. Amos-landgraf et al., Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints, AM J HU GEN, 65(2), 1999, pp. 370-386
Molecular mechanism of Angelman syndrome in two large families involves animprinting mutation
Authors: Ohta, T Buiting, K Kokkonen, H McCandless, S Heeger, S Leisti, H Driscoll, DJ Cassidy, SB Horsthemke, B Nicholls, RD
Citation: T. Ohta et al., Molecular mechanism of Angelman syndrome in two large families involves animprinting mutation, AM J HU GEN, 64(2), 1999, pp. 385-396
Prader-Willi syndrome
Authors: Dykens, EM Cassidy, SB
Citation: Em. Dykens et Sb. Cassidy, Prader-Willi syndrome, HANDBOOK OF NEURODEVELOPMENTAL AND GENETIC DISORDERS IN CHILDREN, 1999, pp. 525-554
Phenotypic differences in African Americans with Prader-Willi Syndrome
Authors: Hudgins, L Geer, JS Cassidy, SB
Citation: L. Hudgins et al., Phenotypic differences in African Americans with Prader-Willi Syndrome, GENET MED, 1(1), 1998, pp. 49-51
Risultati: 1-13 |