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Results: 1-16 |
Results: 16
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families
Authors: Nurmi, EL Bradford, Y Chen, YH Hall, J Arnone, B Gardiner, MB Hutcheson, HB Gilbert, JR Pericak-Vance, MA Copeland-Yates, SA Michaelis, RC Wassink, TH Santangelo, SL Sheffield, VC Piven, J Folstein, SE Haines, JL Sutcliffe, JS
Citation: El. Nurmi et al., Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families, GENOMICS, 77(1-2), 2001, pp. 105-113
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
Prenatal diagnosis of mosaicism for triploidy and trisomy 13
Authors: Phelan, MC Rogers, RC Michaelis, RC Moore, CL Blackburn, W
Citation: Mc. Phelan et al., Prenatal diagnosis of mosaicism for triploidy and trisomy 13, PRENAT DIAG, 21(6), 2001, pp. 457-460
Lack of association of the (AAAT)(6) allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism
Authors: Plank, SM Copeland-Yates, SA Sossey-Alaoui, K Bell, JM Schroer, RJ Skinner, C Michaelis, RC
Citation: Sm. Plank et al., Lack of association of the (AAAT)(6) allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism, AM J MED G, 105(5), 2001, pp. 404-405
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation
Authors: Michaelis, RC
Citation: Rc. Michaelis, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation, AM J MED G, 100(1), 2001, pp. 85-86
Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material
Authors: Jarrett, KL Michaelis, RC Phelan, MC Vincent, VA Best, RG
Citation: Kl. Jarrett et al., Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material, AM J OBST G, 185(1), 2001, pp. 198-203
Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus
Authors: Graf, RD Born, DE Shaw, DWW Thomas, JR Holloway, BW Michaelis, RC
Citation: Rd. Graf et al., Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus, ANN NEUROL, 47(1), 2000, pp. 113-117
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation
Authors: Friez, MJ Essop, FB Krause, A Castiglia, L Ragusa, A Sossey-Alaoui, K Nelson, RL May, MM Michaelis, RC Srivastava, AK Schwartz, CE Stevenson, RE Goldman, A Villard, L Longshore, JW
Citation: Mj. Friez et al., Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation, HUM GENET, 106(1), 2000, pp. 36-39
DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting
Authors: Glenn, CC Deng, G Michaelis, RC Tarleton, J Phelan, MC Surh, L Yang, TP Driscoll, DJ
Citation: Cc. Glenn et al., DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting, PRENAT DIAG, 20(4), 2000, pp. 300-306
The HOPA gene dodecamer duplication is not a significant etiological factor in autism
Authors: Michaelis, RC Copeland-Yates, SA Sossey-Alaoui, K Skinner, C Friez, MJ Longshore, JW Simensen, RJ Schroer, RJ Stevenson, RE
Citation: Rc. Michaelis et al., The HOPA gene dodecamer duplication is not a significant etiological factor in autism, J AUTISM D, 30(4), 2000, pp. 355-358
Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements
Authors: Kaiser-Rogers, KA Rao, KW Michaelis, RC Lese, CM Powell, CM
Citation: Ka. Kaiser-rogers et al., Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements, AM J MED G, 95(1), 2000, pp. 28-35
Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation
Authors: Seeler, RA Vnencak-Jones, CL Bassett, LM Gilbert, JB Michaelis, RC
Citation: Ra. Seeler et al., Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation, HAEMOPHILIA, 5(6), 1999, pp. 445-449
Brainstem diffusion-weighted MRI in boys with L1CAM mutations
Authors: Graf, WD Born, DE Shaw, DWW Thomas, JR Holloway, LW Michaelis, RC
Citation: Wd. Graf et al., Brainstem diffusion-weighted MRI in boys with L1CAM mutations, EUR J PED S, 9, 1999, pp. 41-42
Chromosome duplications and deletions and their mechanisms of origin
Authors: Tharapel, AT Michaelis, RC Velagaleti, GVN Laundon, CH Martens, PR Buchanan, PD Teague, KE Tharapel, SA Wilroy, RS
Citation: At. Tharapel et al., Chromosome duplications and deletions and their mechanisms of origin, CYTOG C GEN, 85(3-4), 1999, pp. 285-290
Townes-Brocks syndrome
Authors: Powell, CM Michaelis, RC
Citation: Cm. Powell et Rc. Michaelis, Townes-Brocks syndrome, J MED GENET, 36(2), 1999, pp. 89-93
A patient with autistic disorder and a 20/22 chromosomal translocation
Authors: Michaelis, RC
Citation: Rc. Michaelis, A patient with autistic disorder and a 20/22 chromosomal translocation, DEVELOP MED, 40(11), 1998, pp. 785-785
Risultati: 1-16 |