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Results: 1-25 | 26-29
Results: 1-25/29
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
Authors: Matsumoto, N Leventer, RJ Kuc, JA Mewborn, SK Dudlicek, LL Ramocki, MB Pilz, DT Mills, PL Das, S Ross, ME Ledbetter, DH Dobyns, WB
Citation: N. Matsumoto et al., Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia, EUR J HUM G, 9(1), 2001, pp. 5-12
Rapid publication - Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22, and 11q23-24 in south African Afrikaners
Authors: Simonic, I Nyholt, DR Gericke, GS Gordon, D Matsumoto, N Ledbetter, DH Ott, J Weber, JL
Citation: I. Simonic et al., Rapid publication - Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22, and 11q23-24 in south African Afrikaners, AM J MED G, 105(2), 2001, pp. 163-167
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
Authors: Leventer, RJ Cardoso, C Ledbetter, DH Dobyns, WB
Citation: Rj. Leventer et al., LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ, NEUROLOGY, 57(3), 2001, pp. 416-422
Incomplete penetrance with normal MRI in a woman with germline mutation ofthe DCX gene
Authors: Demelas, L Serra, G Conti, M Achene, A Mastropaolo, C Matsumoto, N Dudlicek, LL Mills, PL Dobyns, WB Ledbetter, DH Das, S
Citation: L. Demelas et al., Incomplete penetrance with normal MRI in a woman with germline mutation ofthe DCX gene, NEUROLOGY, 57(2), 2001, pp. 327-330
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
Authors: Ungaro, P Christian, SL Fantes, JA Mutirangura, A Black, S Reynolds, J Malcolm, S Dobyns, WB Ledbetter, DH
Citation: P. Ungaro et al., Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14, J MED GENET, 38(1), 2001, pp. 26-34
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
Authors: Herzing, LBK Kim, SJ Cook, EH Ledbetter, DH
Citation: Lbk. Herzing et al., The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression, AM J HU GEN, 68(6), 2001, pp. 1501-1505
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
Authors: Giglio, S Broman, KW Matsumoto, N Calvari, V Gimelli, G Neumann, T Ohashi, H Voullaire, L Larizza, D Giorda, R Weber, JL Ledbetter, DH Zuffardi, O
Citation: S. Giglio et al., Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements, AM J HU GEN, 68(4), 2001, pp. 874-883
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis
Authors: Leventer, RJ Pilz, DT Matsumoto, N Ledbetter, DH Dobyns, WB
Citation: Rj. Leventer et al., Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis, MOL MED TOD, 6(7), 2000, pp. 277-284
Breakpoint sequences of an 1;8 translocation in a family with Gilles de laTourette syndrome
Authors: Matsumoto, N David, DE Johnson, EW Konecki, D Burmester, JK Ledbetter, DH Weber, JL
Citation: N. Matsumoto et al., Breakpoint sequences of an 1;8 translocation in a family with Gilles de laTourette syndrome, EUR J HUM G, 8(11), 2000, pp. 875-883
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
Authors: Cardoso, C Leventer, RJ Matsumoto, N Kuc, JA Ramocki, MB Mewborn, SK Dudlicek, LL May, LF Mills, PL Das, S Pilz, DT Dobyns, WB Ledbetter, DH
Citation: C. Cardoso et al., The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene, HUM MOL GEN, 9(20), 2000, pp. 3019-3028
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele
Authors: Kennedy, D Silver, MM Winsor, EJT Toi, A Provias, J Macha, M Precht, K Ledbetter, DH Chitayat, D
Citation: D. Kennedy et al., Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele, AM J MED G, 91(3), 2000, pp. 167-170
Somatic segregation errors predominantly contribute to the gain or loss ofa paternal chromosome leading to uniparental disomy for chromosome 15
Authors: Robinson, WP Christian, SL Kuchinka, BD Penaherrera, S Das, S Schuffenhauer, S Malcolm, S Schinzel, AA Hassold, TJ Ledbetter, DH
Citation: Wp. Robinson et al., Somatic segregation errors predominantly contribute to the gain or loss ofa paternal chromosome leading to uniparental disomy for chromosome 15, CLIN GENET, 57(5), 2000, pp. 349-358
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
Authors: Das, S Lese, CM Song, M Jensen, JL Wells, LA Barnoski, BL Roseberry, JA Camacho, JM Ledbetter, DH Schnur, RE
Citation: S. Das et al., Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities, AM J HU GEN, 67(6), 2000, pp. 1586-1591
An optimized set of human telomere clones for studying telomere integrity and architecture
Authors: Knight, SJL Lese, CM Precht, KS Kuc, J Ning, Y Lucas, S Regan, R Brenan, M Nicod, A Lawrie, NM Cardy, DLN Nguyen, H Hudson, TJ Riethman, HC Ledbetter, DH Flint, J
Citation: Sjl. Knight et al., An optimized set of human telomere clones for studying telomere integrity and architecture, AM J HU GEN, 67(2), 2000, pp. 320-332
Frank Greenberg, MD, FACMG - 1948-1998 - In memoriam
Authors: Ledbetter, DH
Citation: Dh. Ledbetter, Frank Greenberg, MD, FACMG - 1948-1998 - In memoriam, GENET MED, 1(3), 1999, pp. 117-117
Characterization of physical gap sizes at human telomeres
Authors: Lese, CM Fantes, JA Riethman, HC Ledbetter, DH
Citation: Cm. Lese et al., Characterization of physical gap sizes at human telomeres, GENOME RES, 9(9), 1999, pp. 888-894
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
Authors: Pilz, DT Kuc, J Matsumoto, N Bodurtha, J Bernadi, B Tassinari, CA Dobyns, WB Ledbetter, DH
Citation: Dt. Pilz et al., Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1, HUM MOL GEN, 8(9), 1999, pp. 1757-1760
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
Authors: Christian, SL Fantes, JA Mewborn, SK Huang, B Ledbetter, DH
Citation: Sl. Christian et al., Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13), HUM MOL GEN, 8(6), 1999, pp. 1025-1037
The spectrum of mutations in UBE3A causing Angelman syndrome
Authors: Fang, P Lev-Lehman, E Tsai, TF Matsuura, T Benton, CS Sutcliffe, JS Christian, SL Kubota, T Halley, DJ Meijers-Heijboer, H Langlois, S Graham, JM Beuten, J Willems, PJ Ledbetter, DH Beaudet, AL
Citation: P. Fang et al., The spectrum of mutations in UBE3A causing Angelman syndrome, HUM MOL GEN, 8(1), 1999, pp. 129-135
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)
Authors: Matsumoto, N Pilz, DT Ledbetter, DH
Citation: N. Matsumoto et al., Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS), GENOMICS, 56(2), 1999, pp. 179-183
Molecular cloning and characterization of the human NUDC gene
Authors: Matsumoto, N Ledbetter, DH
Citation: N. Matsumoto et Dh. Ledbetter, Molecular cloning and characterization of the human NUDC gene, HUM GENET, 104(6), 1999, pp. 498-504
Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent
Authors: Storto, PD Diehn, TN O'Malley, DP Bullard, BA Netzloff, ML VanDyke, DL Feldman, GL Precht, KS Ledbetter, DH Lese, CM
Citation: Pd. Storto et al., Satellited chromosome 10 detected prenatally in a fetus and confirmed as mosaic in a parent, PRENAT DIAG, 19(11), 1999, pp. 1088-1089
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3
Authors: Pollin, TI Dobyns, WB Crowe, CA Ledbetter, DH Bailey-Wilson, JE Smith, ACM
Citation: Ti. Pollin et al., Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3, AM J MED G, 85(4), 1999, pp. 369-375
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia
Authors: Spiro, RP Christian, SL Ledbetter, DH New, MI Wilson, RC Roizen, N Rosenfield, RL
Citation: Rp. Spiro et al., Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia, PEDIAT RES, 46(5), 1999, pp. 510-513
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
Authors: Dobyns, WB Truwit, CL Ross, ME Matsumoto, N Pilz, DT Ledbetter, DH Gleeson, JG Walsh, CA Barkovich, AJ
Citation: Wb. Dobyns et al., Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly, NEUROLOGY, 53(2), 1999, pp. 270-277
Risultati: 1-25 | 26-29