Beaty, T. H, Hetmanski, J. B, Fallin, M. D, Park, J. W, Sull, J. W, McIntosh, I, ...
Isolated oral clefts, including cleft lip with/without cleft palate (CL/P) and cleft palate (CP), have a complex and heterogeneous etiology. Case-parent trios from three populations were used to...
Hewitt, C., McCormick, D., Linden, G., Turk, D., Stern, I., Wallace, I., ...
We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefèvre syndrome, an autosomal recessive condition characterized by palmoplantar...
Dixon, M J, Small, K W, Jabs, E W, Leroy, B P, ...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. In...
Gregor, P, Reeves, R H, Jabs, E W, Yang, X, Dackowski, W, Rochelle, J M, ...
Receptors for the major excitatory neurotransmitter glutamate may play key roles in neurodegeneration. The mouse Glur-5 gene maps to chromosome 16 between App and Sod-1. The homologous human GLUR5...
Jabs, E W, Goble, C A, Cutting, G R
To analyze the macromolecular organization of human centromeric regions, we used alpha-satellite, or alphoid, repetitive DNA sequences specific to the centromeres of human chromosomes 6 (D6Z1), X...
Jabs, E W, Wolf, S F, Migeon, B R
We have identified a human DNA recombinant (p308) with a 3.0-kilobase (kb) BamHI insert that hybridizes in situ exclusively to the centromeric region of all human autosomes and the X chromosome. This...
Howard, T D, Guttmacher, A E, McKinnon, W, Sharma, M, McKusick, V A, Jabs, E W
We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial...
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas, W A, Cunningham, M L, Howard, T D, Korf, B R, Lipson, M H, Grix, A W, ...
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and...
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Oldridge, M, Zackai, E H, McDonald-McGinn, D M, Iseki, S, Morriss-Kay, G M, Twigg, S R, ...
Apert syndrome, one of five craniosynostosis syndromes caused by allelic mutations of fibroblast growth-factor receptor 2 (FGFR2), is characterized by symmetrical bony syndactyly of the hands and...
Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, ...
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric...
Kovach, M J, Lin, J P, Boyadjiev, S, Campbell, K, Mazzeo, L, Herman, K, ...
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and...
The alphoid DNA family is composed of tandemly repeated sequences whose organization is chromosome specific. Under stringent conditions of hybridization, subsets of these sequences localize...
Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes.
Jabs, E W, Meyers, D A, Bias, W B
The DNA at human centromeric regions was characterized by using a repetitive sequence, 308, which localizes in situ exclusively to centromeres of all chromosomes. We previously noted that this...
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
Van Keuren, M L, Watkins, P C, Drabkin, H A, Jabs, E W, Gusella, J F, Patterson, D
We have used a panel of Chinese hamster X human somatic cell hybrids, each containing various portions of chromosome 21 as the only detectable human chromosome component, for regional mapping of...
Gregor, P, Reeves, R H, Jabs, E W, Yang, X, Dackowski, W, Rochelle, J M, ...
Receptors for the major excitatory neurotransmitter glutamate may play key roles in neurodegeneration. The mouse Glur-5 gene maps to chromosome 16 between App and Sod-1. The homologous human GLUR5...
Jabs, E W, Goble, C A, Cutting, G R
To analyze the macromolecular organization of human centromeric regions, we used alpha-satellite, or alphoid, repetitive DNA sequences specific to the centromeres of human chromosomes 6 (D6Z1), X...
Jabs, E W, Wolf, S F, Migeon, B R
We have identified a human DNA recombinant (p308) with a 3.0-kilobase (kb) BamHI insert that hybridizes in situ exclusively to the centromeric region of all human autosomes and the X chromosome. This...
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas, W A, Cunningham, M L, Howard, T D, Korf, B R, Lipson, M H, Grix, A W, ...
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and...
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Oldridge, M, Zackai, E H, McDonald-McGinn, D M, Iseki, S, Morriss-Kay, G M, Twigg, S R, ...
Apert syndrome, one of five craniosynostosis syndromes caused by allelic mutations of fibroblast growth-factor receptor 2 (FGFR2), is characterized by symmetrical bony syndactyly of the hands and...
Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, ...
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric...
Kovach, M J, Lin, J P, Boyadjiev, S, Campbell, K, Mazzeo, L, Herman, K, ...
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and...
Wyrobek, A. J., Eskenazi, B., Young, S., Arnheim, N., Tiemann-Boege, I., Jabs, E. W., ...
This study compares the relative effects of advancing male age on multiple genomic defects in human sperm [DNA fragmentation index (DFI), chromatin integrity, gene mutations, and numerical...
The alphoid DNA family is composed of tandemly repeated sequences whose organization is chromosome specific. Under stringent conditions of hybridization, subsets of these sequences localize...
Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes.
Jabs, E W, Meyers, D A, Bias, W B
The DNA at human centromeric regions was characterized by using a repetitive sequence, 308, which localizes in situ exclusively to centromeres of all chromosomes. We previously noted that this...
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
Van Keuren, M L, Watkins, P C, Drabkin, H A, Jabs, E W, Gusella, J F, Patterson, D
We have used a panel of Chinese hamster X human somatic cell hybrids, each containing various portions of chromosome 21 as the only detectable human chromosome component, for regional mapping of...
We have characterized variant centromeric regions of chromosome 6 segregating in two families. The heteromorphism, 6ph+, stains negatively with G- and Q-banding and darkly with C-banding. The variant...
Howard, T D, Guttmacher, A E, McKinnon, W, Sharma, M, McKusick, V A, Jabs, E W
We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial...
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
Park, W J, Theda, C, Maestri, N E, Meyers, G A, Fryburg, J S, Dufresne, C, ...
A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency...
Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., ...
Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in...
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
Flanagan, N, Boyadjiev, S A, Harper, J, Kyne, L, Earley, M, Watson, R, ...
We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these...
Cleft lip/palate and CDH1/E‐cadherin mutations in families with hereditary diffuse gastric cancer
Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, ...
We report the association of CDH1/E‐cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1...
Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, ...
Baller‐Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and...