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Results: 1-11 |
Results: 11
Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
Authors: Tuck-Muller, CM Goodman, BK Li, SB Martinez, JE Chen, XN Wertelecki, W Korenberg, JR Stetten, G
Citation: Cm. Tuck-muller et al., Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel, GENET MED, 3(2), 2001, pp. 126-131
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Authors: Praphanphoj, V Goodman, BK Thomas, GH Niel, KM Toomes, C Dixon, MJ Geraghty, MT
Citation: V. Praphanphoj et al., Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), GENOMICS, 65(1), 2000, pp. 67-69
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)
Authors: Cargile, CB McIntosh, I Clough, MV Rutberg, J Yaghmai, R Goodman, BK Chen, XN Korenberg, JR Thomas, GH Geraghty, MT
Citation: Cb. Cargile et al., Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12), AM J MED G, 92(5), 2000, pp. 328-335
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome
Authors: Goodman, BK Rutberg, J Lin, WW Pulver, AE Thomas, GH Geraghty, MT
Citation: Bk. Goodman et al., Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome, J INH MET D, 23(8), 2000, pp. 847-848
Quantitative neurologic assessment of ataxia-telangiectasia
Authors: Crawford, TO Mandir, AS Lefton-Greif, MA Goodman, SN Goodman, BK Sengul, H Lederman, HM
Citation: To. Crawford et al., Quantitative neurologic assessment of ataxia-telangiectasia, NEUROLOGY, 54(7), 2000, pp. 1505-1509
Cryptic subtelomeric translocations in the 22q13 deletion syndrome
Authors: Praphanphoj, V Goodman, BK Thomas, GH Raymond, GV
Citation: V. Praphanphoj et al., Cryptic subtelomeric translocations in the 22q13 deletion syndrome, J MED GENET, 37(1), 2000, pp. 58-61
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia
Authors: Sacksteder, KA Biery, BJ Morrell, JC Goodman, BK Geisbrecht, BV Cox, RP Gould, SJ Geraghty, MT
Citation: Ka. Sacksteder et al., Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia, AM J HU GEN, 66(6), 2000, pp. 1736-1743
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter
Authors: Camacho, JA Obie, C Biery, B Goodman, BK Hu, CA Almashanu, S Steel, G Casey, R Lambert, M Mitchell, GA Valle, D
Citation: Ja. Camacho et al., Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter, NAT GENET, 22(2), 1999, pp. 151-158
Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat
Authors: Goodman, BK Stone, K Coddett, JM Cargile, CB Gurewitsch, ED Blakemore, KJ Stetten, G
Citation: Bk. Goodman et al., Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat, PRENAT DIAG, 19(12), 1999, pp. 1150-1156
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ''complete ring" syndrome
Authors: Sigurdardottir, S Goodman, BK Rutberg, J Thomas, GH Jabs, EW Geraghty, MT
Citation: S. Sigurdardottir et al., Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ''complete ring" syndrome, AM J MED G, 87(5), 1999, pp. 384-390
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families
Authors: Goodman, BK Shaffer, LG Rutberg, J Leppert, M Harum, K Gagos, S Ray, JH Bialer, MG Zhou, XT Pletcher, BA Shapira, SK Geraghty, MT
Citation: Bk. Goodman et al., Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families, AM J MED G, 80(4), 1998, pp. 377-384
Risultati: 1-11 |