Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6.

Por Jabs, E W, Carpenter, N
Publicado em 1988

Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences.

Por Jabs, E W, Persico, M G
Publicado em 1987

Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation.

Por Jabs, E W, Wolf, S F, Migeon, B R
Publicado em 1984

Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.

Por Jabs, E W, Goble, C A, Cutting, G R
Publicado em 1989

Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes.

Por Jabs, E W, Meyers, D A, Bias, W B
Publicado em 1986

Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

Por Park, W J, Bellus, G A, Jabs, E W
Publicado em 1995

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

Por Flanagan, N, Boyadjiev, S A, Harper, J, Kyne, L, Earley, M, Watson, R, Jabs, E W, Geraghty, M T
Publicado em 1998

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Por Howard, T D, Guttmacher, A E, McKinnon, W, Sharma, M, McKusick, V A, Jabs, E W
Publicado em 1997

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.

Por Van Keuren, M L, Watkins, P C, Drabkin, H A, Jabs, E W, Gusella, J F, Patterson, D
Publicado em 1986

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

Por Wyrobek, A. J., Eskenazi, B., Young, S., Arnheim, N., Tiemann-Boege, I., Jabs, E. W., Glaser, R. L., Pearson, F. S., Evenson, D.
Publicado em 2006

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Por Park, W J, Theda, C, Maestri, N E, Meyers, G A, Fryburg, J S, Dufresne, C, Cohen, M M, Jabs, E W
Publicado em 1995

Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans.

Por Gregor, P, Reeves, R H, Jabs, E W, Yang, X, Dackowski, W, Rochelle, J M, Brown, R H, Haines, J L, O'Hara, B F, Uhl, G R
Publicado em 1993

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Por Kovach, M J, Lin, J P, Boyadjiev, S, Campbell, K, Mazzeo, L, Herman, K, Rimer, L A, Frank, W, Llewellyn, B, Jabs, E W, Gelber, D, Kimonis, V E
Publicado em 1999

High throughput SNP and expression analyses of candidate genes for non‐syndromic oral clefts

Por Park, J W, Cai, J, McIntosh, I, Jabs, E W, Fallin, M D, Ingersoll, R, Hetmanski, J B, Vekemans, M, Attie‐Bitach, T, Lovett, M, Scott, A F, Beaty, T H
Publicado em 2006

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Por Paznekas, W A, Cunningham, M L, Howard, T D, Korf, B R, Lipson, M H, Grix, A W, Feingold, M, Goldberg, R, Borochowitz, Z, Aleck, K, Mulliken, J, Yin, M, Jabs, E W
Publicado em 1998

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Por Oldridge, M, Zackai, E H, McDonald-McGinn, D M, Iseki, S, Morriss-Kay, G M, Twigg, S R, Johnson, D, Wall, S A, Jiang, W, Theda, C, Jabs, E W, Wilkie, A O
Publicado em 1999

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Por Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., Jabs, E. W.
Publicado em 1996

Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

Por Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Publicado em 2006

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Por Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, Szabo, J, Jiang, W, Jabs, E W, Wilcox, W R, Wasmuth, J J, Donoghue, D J, Thompson, L M, Francomano, C A
Publicado em 1999

Cleft lip/palate and CDH1/E‐cadherin mutations in families with hereditary diffuse gastric cancer

Por Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, Vekemans, M, Hartmann, A, Baert‐Desurmont, S, Alexandre, C, Dumoulin, S Lejeune, Marroni, C, Martin, C, Castedo, S, Lovett, M, Winston, J, Machado, J C, Attié, T, Jabs, E W, Cai, J, Pellerin, Ph, Triboulet, J P, Scotte, M, Pessot, F Le, Hedouin, A, Carneiro, F, Blayau, M, Seruca, R
Publicado em 2006