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Results: 1-25 | 26-26
Results: 1-25/26
Clinical spectrum of fibroblast growth factor receptor mutations (vol 14, pg 115, 1999)
Authors: Passos-Bueno, MR Wilcox, WR Jabs, EW Sertie, AL Alonso, LG Kitoh, H
Citation: Mr. Passos-bueno et al., Clinical spectrum of fibroblast growth factor receptor mutations (vol 14, pg 115, 1999), HUM MUTAT, 17(5), 2001, pp. 431-431
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
Authors: De Baere, E Dixon, MJ Small, KW Jabs, EW Leroy, BP Devriendt, K Gillerot, Y Mortier, G Meire, F Van Maldergem, L Courtens, W Hjalgrim, H Huang, S Liebaers, I Van Regemorter, N Touraine, P Praphanphoj, V Verloes, A Udar, N Yellore, V Chalukya, M Yelchits, S De Paepe, A Kuttenn, F Fellous, M Veitia, R Messiaen, L
Citation: E. De Baere et al., Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation, HUM MOL GEN, 10(15), 2001, pp. 1591-1600
Polymorphisms in the human SNAIL (SNAI1) gene
Authors: Okajima, K Paznekas, WA Burstyn, T Jabs, EW
Citation: K. Okajima et al., Polymorphisms in the human SNAIL (SNAI1) gene, MOL CELL PR, 15(1), 2001, pp. 53-55
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
Authors: Schweitzer, DN Graham, JM Lachman, RS Jabs, EW Okajima, K Przylepa, KA Shanske, A Chen, K Neidich, JA Wilcox, WR
Citation: Dn. Schweitzer et al., Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3, AM J MED G, 98(1), 2001, pp. 75-91
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene
Authors: Lowry, RB Jabs, EW Graham, GE Gerritsen, J Fleming, J
Citation: Rb. Lowry et al., Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene, AM J MED G, 104(2), 2001, pp. 112-119
A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development
Authors: Jabs, EW
Citation: Ew. Jabs, A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development, J CLIN INV, 107(9), 2001, pp. 1075-1077
Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis
Authors: Kates, WR Burnette, CP Jabs, EW Rutberg, J Murphy, AM Grados, M Geraghty, M Kaufmann, WE Pearlson, GD
Citation: Wr. Kates et al., Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis, BIOL PSYCHI, 49(8), 2001, pp. 677-684
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
Authors: Isaac, C Marsh, KL Paznekas, WA Dixon, J Dixon, MJ Jabs, EW Meier, UT
Citation: C. Isaac et al., Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome, MOL BIOL CE, 11(9), 2000, pp. 3061-3071
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome
Authors: Norris, RA Scott, KK Moore, CS Stetten, G Brown, CR Jabs, EW Wulfsberg, EA Yu, J Kern, MJ
Citation: Ra. Norris et al., Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome, MAMM GENOME, 11(11), 2000, pp. 1000-1005
The pleiotropic effects of fibroblast growth factor receptors in mammaliandevelopment
Authors: McIntosh, I Bellus, GA Jabs, EW
Citation: I. Mcintosh et al., The pleiotropic effects of fibroblast growth factor receptors in mammaliandevelopment, CELL STRUCT, 25(2), 2000, pp. 85-96
Cloning and chromosomal localization of the human BARX2 homeobox protein gene
Authors: Krasner, A Wallace, L Thiagalingam, A Jones, C Lengauer, C Minahan, L Ma, YK Kalikin, L Feinberg, AP Jabs, EW Tunnacliffe, A Baylin, SB Ball, DW Nelkin, BD
Citation: A. Krasner et al., Cloning and chromosomal localization of the human BARX2 homeobox protein gene, GENE, 250(1-2), 2000, pp. 171-180
Physical mapping of the human ATX1 homologue (HAH1) to the critical regionof the 5q-syndrome within 5q32, and immediately adjacent to the SPARC gene
Authors: Boultwood, J Strickson, AJ Jabs, EW Cheng, JF Fidler, C Wainscoat, JS
Citation: J. Boultwood et al., Physical mapping of the human ATX1 homologue (HAH1) to the critical regionof the 5q-syndrome within 5q32, and immediately adjacent to the SPARC gene, HUM GENET, 106(1), 2000, pp. 127-129
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
Authors: Boyadjiev, SA Jabs, EW
Citation: Sa. Boyadjiev et Ew. Jabs, Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders, CLIN GENET, 57(4), 2000, pp. 253-266
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Authors: Glaser, RL Jiang, W Boyadjiev, SA Tran, AK Zachary, AA Van Maldergem, L Johnson, M Walsh, S Oldridge, M Wall, SA Wilkie, AOM Jabs, EW
Citation: Rl. Glaser et al., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, AM J HU GEN, 66(3), 2000, pp. 768-777
Clinical spectrum of fibroblast growth factor receptor mutations
Authors: Passos-Bueno, MR Wilcox, WR Jabs, EW Sertie, AL Alonso, LG Kitoh, H
Citation: Mr. Passos-bueno et al., Clinical spectrum of fibroblast growth factor receptor mutations, HUM MUTAT, 14(2), 1999, pp. 115-125
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings
Authors: Ferreira, JC Carter, SM Bernstein, PS Jabs, EW Glickstein, JS Marion, RW Baergen, RN Gross, SJ
Citation: Jc. Ferreira et al., Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings, ULTRASOUN O, 14(6), 1999, pp. 426-430
Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P)
Authors: Paznekas, WA Okajima, K Schertzer, M Wood, S Jabs, EW
Citation: Wa. Paznekas et al., Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P), GENOMICS, 62(1), 1999, pp. 42-49
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23
Authors: Boyadjiev, SA Jabs, EW LaBuda, M Jamal, JE Torbergsen, T Ptacek, LJ Rogers, RC Nyberg-Hansen, R Opjordsmoen, S Zeller, CB Stine, OC Stalker, HJ Zori, RT Shapiro, RE
Citation: Sa. Boyadjiev et al., Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23, GENOMICS, 58(1), 1999, pp. 34-40
Chromosomal localization of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to 13q12 -> q14
Authors: MacDonald, SM Paznekas, WA Jabs, EW
Citation: Sm. Macdonald et al., Chromosomal localization of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to 13q12 -> q14, CYTOG C GEN, 84(1-2), 1999, pp. 128-129
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
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation
Authors: Okajima, K Robinson, LK Hart, MA Abuelo, DN Cowan, LS Hasegawa, T Maumenee, IH Jabs, EW
Citation: K. Okajima et al., Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation, AM J MED G, 85(2), 1999, pp. 160-170
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
Authors: Bellus, GA Bamshad, MJ Przylepa, KA Dorst, J Lee, RR Hurko, O Jabs, EW Curry, CJR Wilcox, WR Lachman, RS Rimoin, DL Francomano, CA
Citation: Ga. Bellus et al., Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3, AM J MED G, 85(1), 1999, pp. 53-65
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
Authors: Kovach, MJ Lin, JP Boyadjiev, S Campbell, K Mazzeo, L Herman, K Rimer, LA Frank, W Llewellyn, B Jabs, EW Gelber, D Kimonis, VE
Citation: Mj. Kovach et al., A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness, AM J HU GEN, 64(6), 1999, pp. 1580-1593
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
Authors: Tavormina, PL Bellus, GA Webster, MK Bamshad, MJ Fraley, AE McIntosh, I Szabo, J Jiang, W Jabs, EW Wilcox, WR Wasmuth, JJ Donoghue, DJ Thompson, LM Francomano, CA
Citation: Pl. Tavormina et al., A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene, AM J HU GEN, 64(3), 1999, pp. 722-731
De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
Authors: Oldridge, M Zackai, EH McDonald-McGinn, DM Iseki, S Morriss-Kay, GM Twigg, RF Johnson, D Wall, SA Jiang, W Theda, C Jabs, EW Wilkie, AOM
Citation: M. Oldridge et al., De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome, AM J HU GEN, 64(2), 1999, pp. 446-461
Risultati: 1-25 | 26-26