Publications
2006
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziado C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune-Dumoulin S, Marroni C, Marin C, Castedo S, Lovett M, Winston J, Machado JC, Attie T, Jabs EW, Cai J, Pellerin P, et al
Cleft lip/palate and CDH1?E-cadherin mutations in families with hereditary diffuse gastric cancer.
J Med Genet, 43(2):138-42
abstract
Gordillo, M., Vega, H., Jabs, E.W.
Roberts syndrome
GeneReviews online.
URL:http://www.genetests.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=6vX9-neaQNnJ8&gry=&fcn=y&fw=kjly&filename=/profiles/rbs/index.html
Griffith AJ, Yang Y, Pryor SP, Park H-J, Jabs EW, Nadol Jr JB, Russel LJ, Wasserman DI, Richard G, Adams JC, Merchant SN.
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
Laryngoscope, 116(8):1404-8.
abstract
Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AOM, Pasos-Bueno MR.
Mutational screening of FGFR1, CER1 and CDON in a large cohort of trigonocephalic patients.
Cleft Palate Craniofac J., 43(2):148-51.
abstract
Lai A, Le D-N, Paznekas WA, Gifford WD, Jabs EW, Charles AC.
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
J Cell Sci, 119(Pt 3):532-41.
abstract
Lewanda, A.F., Boyadjiev, S.A., and Jabs E.W.
Dysmorphology: Genetic syndromes and associations, In Oski's Pediatrics: Principles and Practice, Fourth Edition.
(eds. McMillan, J.A., DeAngelis, C.D., Feigin, R.D., and Warshaw, J.P.), Lippincott, Williams, & Wilkins Publishers, pp. 2629-2670
Park JW, Cai J, McIntosh I, Jabs EW, Falling MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH.
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
J Med Genet., 43(7):598-608.
abstract
Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, DeRoy M, Delague V, Muenke M, Jabs EW, Cai J, WAng LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A.
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
J Med Genet, 43(2):148-52.
abstract
Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D.
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, aneuploidies in sperm.
Proc Natl Acad Sci USA, 103(25):9601-6.
abstract
Ye X, Song G, Fan M, Shi L, Jabs EW, Guo R, Huang S, and Brian Z.
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Hum Genet, 119(1-2):199-205.
abstract
2005
Ben, J., Jabs, E.W., and Chong, S.S.
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes.
Gene Expr Patterns 5(5):629-638
abstract
Cai, J. and Jabs, E.W.
A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development.
Bioessays 27(11):1102-1106.
Cai, J., Ash, D., Kotch, L.E., Jabs, E.W., Attie-Bitach, T., Auge, J., Mattei, G., Etchevers, H., Vekemans, M., Korshunova, Y., Tidwell, R., Messina, D.N., Winston, J.B., and Lovett, M.
Gene expression in pharyngeal arch 1 during human embryonic development.
Hum Mol Genet 14(7):903-912
abstract
Cheah, F.S., Jabs, E.W., and Chong, S.S.
Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3).
Dev Dyn 232(4):1021-1030
abstract
Huang, N., Pandey, A.V., Agrawal, V., Reardon, W., Lapunzina, P.D., Mowat, D., Jabs, E.W., Van Vliet, G., Sack, J., Fluck, C.E., and Miller, W.L.
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steriodogenesis.
Am J Hum Genet 76(5):729-749
abstract
Jehee, F.S., Johnson, D., Alonso, L.G., Cavalcanti, D.P., de Sa Moreira, E., Alberto, F.L., Kok, F., Kim, C., Wall, S.A., Jabs, E.W., Boyadjiev, S.A., Wilkie, A.O., and Passos-Bueno, M.R.
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
Clin Genet 67(6):503-510
abstract
Shibayama, J., Paznekas, W., Seki, A., Taffet, S., Jabs, E.W., Delmar, M., and Musa, H.
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
Circ Res 96(10):e83-e91
abstract
Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E.W., Inui, K., and Joenje, H.
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
Nat Genet 37(5):468-470
abstract
Wang, Y., Xiao, R., Yang, F., Karim, B.O., Iacovelli, A.J., Cai, J., Lerner, C.P., Richtsmeier, J.T., Leszl, J.M., Hill, C.A., Yu, K., Ornitz, D.M., Elisseeff, J., Huso, D.L., and Jabs, E.W.
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+/S252W mouse.
Development 132(15):3537-3548
abstract
2004
Flück, C.E., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge C.F., Jabs, E.W., Menonça, B.B., Fujieda, K., and Miller, W.L.
Mutant P450-oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nat Genet 36(3):228-230
abstract
Glaser, R.L. and Jabs, E.W.
Dear Old Dad: paternal age and the origin of spontaneous mutations in humans
Sci Aging Knowl. Environ. (3):re1-11
abstract
Hewitt, C., McCormick, D., Linden, G., Turk, D., Stern, I., Wallace, I., Southern, L., Zhang, L., Howard, R., Bullon, P., Wong, M., Widmer, R., Gaffar, K.A., et al.
The role of cathepsin C In Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hum Mutat 23(3):222-228
abstract
Jabs, E.W.
TWIST and the Saethre-Chotzen Syndrome, In Molecular Basis of Inborn Errors of Development, (eds. Epstein, C.J., Erickson, R.P., and Synshaw-Boris, A.)
Oxford University Press, New York, pp. 401-409
Kates, W.R., Burnette, C.P., Bessette, B.A., Folley, B.S., Strunge, L., Jabs, E.W., and Pearlson, G.D.
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2).
J Child Neurol 19(5):337-342
abstract
Shoo, B.A., McPherson, E., and Jabs, E.W.
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.
Am J Med Genet 126A:84-88
abstract
2003
Cai, J., Goodman, B.K., Patel, A.S., Mulliken, J.B., Van Maldergem, L., Hoganson, G.E., Paznekas, W.A., Ben-Neriah, Z., Sheffer, R., Cunningham, M.L., Daentl, D.L., and Jabs, E.W.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Hum Genet, 114(1):68-76
abstract
Cai, J., Shoo, B.A., Sorauf, T. and Jabs, E.W.
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
Clin Genet 64(1):79-82.
abstract
Glaser, R.L., Broman, K.W., Schulman, R.L., Eskenazi B., Wyrobek, A.J., and Jabs, E.W.
The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm.
Am J Hum Genet 73(4):939-947
abstract
Hoover-Fong, J.E., Cai, J., Cargile, C.B., Thomas, G.H., Patel, A., Griffin, C.A., Jabs, E.W., and Hamosh, A.
Facial Dysgenesis: A novel facial syndrome with chromosome 7 deletion p15-1-21.1.
Am J Med Genet 117A(1):47-56
abstract
Paznekas, W.A., Boyadjiev, S.A., Shapiro, R.E., Daniels, O., Wollnik, B., Keegan, C.E., Innis, J.W., Dinulos, M.B., Christian, C., Hannibal, M.C.and Jabs, E.W.
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Am J Hum Genet 72(2):408-418
abstract
Splendore, A., Jabs, E.W., and Félix, T.M., and Passos-Bueno, M.R.
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
Eur J Hum Genet 11(9):718-722
abstract
2002
Boyadjiev, S.A., Chowdry, A.B., Shapiro, R.E., Wandstrat A.E., Choi J.W., Kasch, L., Zhang, G., Wollnik, B., Burgess, C.E., Schalling, M., Lovett, M., and Jabs, E.W.
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.
Cytogenet Genome Res 98:29-37
abstract
Cai, J., Ash, D., and Jabs, E.W.
SAGE Analysis from 1ug of Total RNA, In Unit 19.4 "Serial Analysis of Gene Expression Using 1 Microgram Total RNA" for Supplement 16.
Current Protocols in Cell Biology (eds. Bonifacino, J.S., Dasso, M., Harford, J.B., Lippincott-Schwartz, J., and Yamada, K.M.), John D. Wiley & Sons, New York, pp. 19.4.1-19.4.10
Chong, S.E., Cheah, F.S.H., and Jabs, E.W.
Genes implicated in lip and palate development,
In Cleft Lip and Palate: From Origin to Treatment (ed. Wyszynski, D.F.), Oxford University Press, pp. 25-39
Jabs, E.W.
Genetic Etiologies of Craniosynostosis.
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostosis and Facial Clefting, (eds. Mooney MP, and Siegel MI) John W. Wiley and Sons
Kelley, R.I., Kratz, L.E., Glaser, R.L., Netzloff, M.L., Wolf, L.M., and Jabs, E.W.
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Am J Med Genet 110:95-102
abstract
Lewanda, A.F., and Jabs, E.W.
Craniosynostosis.
Principles and Practice of Medical Genetics, 4th Edition (eds. Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R.) Churchill Livingstone, London, pp. 3673-3688
Richard, G., Rouan, F., Willoughby, C.E., Brown, N., Chung, P., Ryynänen, M., Jabs, E.W., Bale, S.J., DiGiovanna, J.J., Uitto, J., and Russell, L.
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.
Am J Hum Genet 70(5):1341-1348
abstract
Splendore, A., Jabs, E.W., and Passos-Bueno, M.R.
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
J Med Genet 39(7):493-495
abstract
Splendore, A., Passos-Bueno, M.R., Jabs, E.W., van Maldergem, L., and Wulfsberg, E.A.,
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
Am J Med Genet, 111(3):324-327
abstract
Zeiger, J.S., Beaty, T.H., Hetmanski, J.B., Wang, H., Scott, A.F., Kasch, L., Raymond, G., Jabs, E.W., and Vander Kolk, C.,
Genetic and environmental risk factors for sagittal craniosynostosis.
J Craniofac Surg, 13(5):602-606
abstract
2001
De Baere, E., Dixon, M.J., Small, K.W., Jabs, E.W., Leroy, B.P., 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., Veroles, A., Uda
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation.
Hum Mol Genet 10(15):1591-1600
abstract
Fidler, C., Nakayama, M., Jabs, E.W., Cheng, J.-F., Strickson, A., Ohara, O., Wainscoat, J.S., and Boultwood, J.
Physical mapping of the MEGF1 gene, human homologue of the Drosophila tumour suppressor gene fat, to the critical region of the 5q-syndrome.
GeneScreen 1:165-167
Ingersoll, R.G., Paznekas, W.A., Tran, A.K., Scott, A.F., Jiang, G., and Jabs, E.W.
Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.
Cytogenet Cell Genet 94(3-4):121-126
abstract
Jabs, E.W.
Genetics of mandibulofacial dysostosis.
Craniofacial Surgery: Science and Surgical Technique, (eds. Lin, K.Y., Ogle, R.C., and Jane, J.A.) W.B. Saunders Company, pp. 55-63
Jabs, E.W.
A TWIST in the fate of human osteoblasts identifies signaling moleculars involved in skull development.
J Clin Invest 107(9):1075-1077
abstract
Kates, W.R., Burnette, C.P., Jabs, E.W., Rutberg, J., Murphy, A.M., Grados, M., Geraghty, M., Kaufmann, W.E., and Pearlson, G.D.
Regional cortical white matter reductions in velocardiofacial syndrome: A volumetric MRI analysis.
Biol Psychol 49(8): 677-684
abstract
Lowry, R.B., Jabs, E.W., Graham, G.E., Gerritsen, J., and Fleming, J.
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly and Sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
Am J Med Genet 104(2):112-119
abstract
Okajima, K., Paznekas, W.A., Burstyn, T., and Jabs, E.W.
Polymorphism Report: polymorphism in the Human SNAIL(SNAI1)gene.
Mol Cell Probes 15(1):53-55
abstract
Schweitzer, D.N., Graham, J.M. Jr., Lachman, R.S., Jabs, E.W., Okajima, K., Przylepa, K.A., Shanske, A., Chen, K., Neidich, J.A., and Wilcox, W.R.
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
Am J Med Genet 98(1):75-91
abstract
2000
Boultwood, J., Strickson, A.J., Jabs, E.W., Cheng, J.F., Fidler, C., and Wainscoat, J.S.
Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.
Hum Genet 106(1):127-129
abstract
Boyadjiev, S.A., and Jabs, E.W.
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.
Clin Genet 57(4): 253-66. Review
abstract
DeLeon, V.B., Jabs, E.W., and Richtsmeier, J.T.
Craniofacial growth in craniosynostosis: Genetic basis and morphogenetic process in craniosynostosis.
Plastic Surgery: Indications, Operations, and Outcomes (eds. Achauer, B.M., Eriksson, E., Guyuron, B., Coleman, J.J., Russell, R.C., Vander Kolk, C.A., and Wilkins, E.G.), Mosby-Year Book, pp. 619-636
Glaser, R.L., Jiang, W., Boyadjiev, S.A., Tran, A.K., Zachary, A.A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall ,S.A., Wilkie, A.O.M., and Jabs, E.W.
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Am J Hum Genet 66:768-777
abstract
Krasner, A., Wallace, L., Thiagalingam, A., Jones, C., Lengauer, C., Minahan, L., Ma, Y., Kalikin, L., Feinberg, A.P., Jabs, E.W., Tunnacliffe, A., Baylin, S.B., Ball, D.W., and Nelkin, B.D.
Cloning and chromosomal localization of the human BARX2 homeobox protein gene.
Gene 250(1-2):171-180
abstract
McIntosh, I., Bellus, G.A., and Jabs, E.W.
The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
Cell Struc Func 25(2):85-96
Norris, R.A., Scott, K.K., Moore, C.S., Stetten, G., Brown, C.R., Jabs, E.W., Wulfsberg, E.A., Yu, J., and Kern, M.J.
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome.
Mamm Genome 11(11):1000-1005.
abstract
1999
Bellus, G.A., Bamshad, M.J., Przylepa, K.A., Dorst, J., Lee, R.R., Hurko, O., Jabs, E.W., Curry, C.J., Wilcox, W.R., Lachman, R.S., Rimoin, D.L., and Francomano, C.A.
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 Genet 85(1):53-65
abstract
Boyadjiev, S.A., Jabs, E.W., LaBuda, M., Jamal, J.E., Torbergsen, T., Ptacek, L.J. 2nd, Rogers, R.C., Nyberg-Hansen, R., Opjordsmoen, S., Zeller, C.B., Stine, O.C., Stalker, H.J., Zori, R.T., and Shapiro, R.E.
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics 58(1):34-40
abstract
Ferreira, J.C., Carter S.M., Bernstein, P.S., Jabs, E.W., Glickstein, J.S., Marion, R.W., Baergen, R.N., and Gross, S.J.
Second trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.
Ultrasound Obstet Gynecol 14(6):426-430
abstract
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., and Kimonis, V.E.
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Am J Hum Genet 64(6):1580-1593
abstract
Lewanda, A.F., and Jabs, E.W.
Dysmorphology: Genetic syndromes and associations, In Oski's Pediatrics: Principles and Practice, Third Edition (eds. McMillan, J.A., DeAngelis, C.D., Feigin, R.D., and Warshaw, J.P.)
Lippincott, Williams, & Wilkins Publishers, pp.2225-2259
MacDonald, S.M., Paznekas, W.A., and Jabs, E.W.
Chromosomal localization of tumor protein, translationally-controlled 1, (TPT1) encoding the human histamine releasing factor (HRF) to 13q12--q14.
Cytogenet Cell Genet 84(1-2):128-129
abstract
Okajima, K., Robinson, L.K., Hart, M.A., Abuelo, D.N., Cowan, L.S., Hasegawa, T., Maumenee, I.H., and Jabs, E.W.
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
Am J Med Genet 85:160-170
abstract
Oldridge, M., Zackai, E.H., McDonald-McGinn, D.M., Iseki, S., Morriss-Kay, G.M., Twigg, S.R.F., Johnson, D., Wall, S.A., Jiang, W., Theda, C., Jabs, E.W., and Wilkie, A.O.M.
De novo alu element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Am J Hum Genet 64(2):446-461
abstract
Passos-Bueno, M.R., Wilsox, W.R., Jabs, E.W., Sertie', A.L., Alonso, L.G., and Kitoh, H.
Clinical spectrum of fibroblast growth factor receptor mutations.
Hum Mutat 14(2):115-125
abstract
Paznekas, W.A., Okajima, K., Schertzer, M., Wood, S., and Jabs, E.W.
Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P).
Genomics 62:42-49
abstract
Sigurdardottir, S., Goodman, B.K., Rutberg, J., Thomas, G.H., Jabs, E.W., and Geraghty, M.T.
Clinical, cytogenetic and flourescence in situ hybridization (FISH) findings in two cases of complete ring syndrome.
Am J Med Genet 87:384-390
abstract
Tavormina, P., Bellus, G.A., Webster, MK., 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.,and Francomanco, C.A.
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in fibroblast growth factor receptor 3 gene.
Am J Hum Genet 64(3):722-731
abstract
1998
Brant, S.R., Fu, Y., Fields, C.T., Baltazar, R., Ravenhill, G., Pickles, M.R., Rohal, P.M., Mann, J., Kirschner, B.S., Jabs, E.W., Bayless, T.M., Hanauer, S.B., and Cho, J.H.
American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12.
Gastroenterology 115:1056-1061
abstract
Cho, J.H., Nicolae, D.L., Gold, L.H., Fields, C.T., LaBuda, M.C., Rohal, P.M., Pickles, M.R., Qin, L, Fu, Y., Mann, J.S., Kirschner, B.S., Jabs, E.W., Weber, J., Hanauer, S.B., Bayless, T.M., and Brant, S.R.
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1.
Proc Natl Acad Sci, USA 95:7502-7507
abstract
Flanagan, N., Boyadjiev, S.A., Harper, J., Kyne, L., Earley, M., Watson, R., Jabs, E.W., and Geraghty, M.T.
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
J Med Genet 35(9):763-766
abstract
Graham, J.M., Jr., Braddock, S.R., Mortier, G.R., Lachman, R., Van Dop, C., and Jabs, E.W.
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
Am J Med Genet 77:322-329
abstract
Jabs, E.W.
A new day has arrived in genetic research.
Newsletter for Faces: The National Craniofacial Association
Jabs, E.W.
Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates.
Clin Genet 53(2):79-86
abstract
Lewanda, A.F., Traboulsi, E.I., and Jabs, E.W.
Syndromes with craniofacial anomalies
In Section V. Ocular manifestations of inherited systemic diseases of Genetic Diseases of the Eye (ed. Traboulsi, E.I.), Oxford University Press, pp. 777-796
Muenke, M., Francomano, C.A., Cohen, M.M., Jr., and Jabs, E.W.
Fibroblast growth factor receptor related skeletal disorders: Craniosynostosis and dwarfism syndromes.
Genetic Basis of Congenital Malformations (ed. Jabs, E.W.) in Principles of Molecular Medicine (ed. Jameson, L.), Humana Press, pp. 1029-1038
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., and Jabs, E.W.
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Am J Hum Genet 62(6):1370-1380
abstract
1997
Boultwood, J., Fidler, C., Soularue, P., Strickson, A.J., Kostrzewa, M., Jaju, R.J., Cotter, F.E., Fairweather, N., Monaco, A.P., Muller, U., Lovett, M., Jabs, E.W., Auffray, C., and Wainscoat, J.S.
Novel genes mapping to the critical region of the 5q- syndrome.
Genomics 45:88-96
abstract
Filkins, K., Russo, J.F., Boehmer, S., Camous, M., Przylepa, K.A., Jiang, W., and Jabs, E.W.
Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.
Prenatal Diagnosis 17(11) 1081-1084
abstract
Howard, T.D., Guttmacher, A.E., McKinnon, W., Sharma ,M., McKusick, V.A., and Jabs, E.W.
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
Am J Hum Genet 61:1405-1412
abstract
Howard, T.D., Guttmacher, A.E., McKinnon, W., Sharma, M., McKusick, V.A., and Jabs, E.W.
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
Am J Hum Genet 61:1405-1412
abstract
Howard, T.D., Paznekas, W.A., Green, E.D., Chiang, L.C., Ma, N., Ortiz de Luna, R.I., Garcia Delgada, C., Gonzalez-Ramos, M, Kline, A.D, and Jabs, E .W.
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
Nat Genet 15(1):36-41
abstract
Oldridge, M., Lunt, P.W., Zackai, E.H., McDonald-McGinn, D.M., Muenke, M., Moloney, D.M., Twigg, S.R.F., Heath, J.K., Howard, T.D., Hoganson, G., Gagnon, D.M., Jabs, E.W., and Wilkie, A.O.M.
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Hum Mol Genet 6:137-143
abstract
Paznekas, W.A., Zhang, N., Gridley, T., and Jabs, E.W.
Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.
Biochem Biophys Res Comm 238:1-6
abstract
Sharma, M., Wise, C., Lovett, M., and Jabs, E.W.
Molecular aspects of mandibulofacial dysostosis.
Studies in Stomatology and Craniofacial Biology on the Threshold of the 21st Century (ed. Cohen, M.M., Jr.), IOS Press, pp. 341-352
Taylor, E.W., Xu, J., Jabs, E.W., and Meyers, D.A.
Linkage analysis of genetic disorders
Methods in Molecular Biology, Vol. 68: Gene Isolation and Mapping Protocols (ed. Boultwood, J.), Totowa, NJ, Humana Press, pp. 11-25
Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M., and Jabs, E.W.
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
Proc Natl Acad Sci, USA 94:3110-3115
abstract
1996
Kokke, F.T.M., Elsawy, T., Bengtsson, U., Wasmuth, J.J., Jabs, E.W., Tse, C.-M., Donowitz, M., and Brant, S.R.
A NHE3-related pseudogene is on human chromosome 10; the functional gene maps to 5p15.3.
Mammalian Genome 7:235-236
abstract
Lewanda, A.F., Meyers, G.A., and Jabs, E.W.
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects.
Proc Assoc Am Physicians 108(1):19-24
abstract
Mashkova, T.D., Tyumeneva, I.G., Zinov¡¦eva, O.L., Romanova, L.Y., Jabs, E., and Aleksandrov, I.A.
Centromeric alpha-satellite DNA at euchromatin/heterochromatin boundary of human chromosome 21.
Molecular Biology 30:617-625
Meyers, G.A., Day, D., Goldberg, R., Daentl, D.L., Przylepa, K.A., Abrams, L.J., Graham, J.M., Jr., Feingold, M., Moeschler, J.B., Rawnsley, E., Scott, A.F., and Jabs, E.W.
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.
Am J Hum Genet 58(3):491-498
abstract
Przylepa, K.A., Paznekas, W., Zhang, M., Golabi, M., Bias, W., Bamshad, M.J., Carey, J.C., Hall, B.D., Stevenson, R., Orlow, S., Cohen, M.M. Jr., and Jabs, E.W.
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Nat Genet 13(4):492-494
abstract
Przylepa, K.A., Paznekas, W., Zhang, M., Golabi, M., Bias, W., Bamshad, M.J., Carey, J.C., Hall, B.D., Stevenson, R., Orlow, S.J., Cohen, M.M., Jr., and Jabs, E.W.
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Nature Genetics 13:492-494
abstract
Wise, C.A., Jabs, E.W., and Lovett, M.
Isolating and mapping coding regions from complex genomes: Direct cDNA selection.
Methods in Molecular Genetics (ed. Adolph, K.W.), San Diego, CA, Academic Press, pp.189-206
1995
Carow, C.E., Kim, E., Hawkins, A.L., Webb, H.D.,Griffin, C.A., Jabs, E.W., Civin, C.I., and Small, D.
Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12-->q13.
Cytogenet Cell Genet 70:255-257
abstract
Lee, C., Li, X., Jabs, E.W., Court, D., and Lin, C.C.
Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence.
Chromosoma 104:103-112
abstract
Lewanda, A.F., Morsey, S., Reid, C.S., and Jabs, E.W.
Two craniosynostotic patients with 11q deletions, and review of 48 cases.
Am J Med Genet 59:193-198
abstract
Li, X., Park, W.J., Pyeritz, R.E., and Jabs, E.W.
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
Nature Genetics 9(3):232-233
abstract
Meyers, G.A., Orlow, S.J., Munro, I.R., Przylepa, K.A., and Jabs, E.W.
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Nat Genet 11(4):462-464
abstract
Meyers, G.A., Orlow, S.J., Munro, I.R., Przylepa, K.A., and Jabs, E.W.
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Nature Genetics 11:462-464
abstract
Park, W.J., Bellus, G.A., and Jabs, E.W.
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Am J Hum Genet 57(4):748-754
abstract
Park, W.J., Meyers, G.A., Li, X., Theda, C., Day, D., Orlow, S.J., Jones, M.C., and Jabs, E.W.
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Hum Mol Genet 4(7):1229-1233
abstract
Park, W.J., Theda, C., Maestri, N.E., Meyers, G.A., Fryburg, J.S., Dufresne, C., Cohen, M.M. Jr., and Jabs, E.W.
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
Am J Hum Genet 57(2):321-328
abstract
1994
Craig, R.W., Jabs, E.W., Zhou, P., Kozopas, K.M., Hawkins, A.L., Rochelle, J.M., Seldin, M.F., and Griffin, C.A.
Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease.
Genomics 23(2):457-463
abstract
Jabs E.W., Li X., Scott A.F., Meyers G., Chen W., Eccles M., Mao J.I., Charnas L.R., Jackson C.E., and Jaye M.
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Nat Genet 8(3):275-279
abstract
Jabs, E.W., Thomas, P.J., Bernstein, M., Coss, C., Ferreira, G.C., and Pedersen, P.L.
Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier.
Human Genetics 93:600-602
abstract
Lewanda, A.F., Cohen, M.M. Jr., Jackson, C.E., Taylor, E.W., Li, X., Beloff, M., Day, D., Clarren, S.K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M.L., Padwa, B.L., Whiteman, D.A.H., Mulliken, J.B., Jabs, E.W.
Genetic heterogeneity among craniosynostosis syndromes: Mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.
Genomics 19:115-119
abstract
Lewanda, A.F., Green, E.D., Weissenbach, J., Jerald, H., Taylor, E., Summar, M.L., Phillips, J.A. III., Cohen, M., Feingold, M., Mouradian, W., Clarren, S.K., and Jabs, E.W.
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.
Am J Hum Genet 55(6):1195-1201
abstract
Lewanda, A.F., Jabs, E.W.
Genetics of craniofacial disorders.
Curr Opin Pediatr 6: 690-697
abstract
Li, X., Lewanda, A.F., Eluma, F., Jerald, H., Choi, H., Alozie, I., Proukakis, C., Talbot, C.C., Jr., Vander Kolk, C., Bird, L.M., Jones, M.C., Cunningham, M., Clarren, S.K., Pyeritz, R.E., Weissenbach, J., Jackson, C.E., and Jabs, E.W.
Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.
Genomics 22(2):418-424
abstract
Li, X., Wise, C.A., Le Paslier, D., Hawkins, A.L., Griffin, C.A., Pittler, S.J., Lovett, M., and Jabs, E.W.
A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.
Genomics 19:470-477
abstract
Malo, M.S., Blanchard, B.J., Andresen, J.M., Srivastava, K., Chen, X.N., Li, X., Jabs, E.W., Korenberg, J.R., and Ingram,V.M.
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.
Cytogenet Cell Genet 67(3):178-186
abstract
Narayanan, V., Ripepi, B., Jabs, E.W., Hawkins, A., Griffin, C., and Tennekoon, G.
Partial structure and mapping of the human myelin P2 protein gene.
J Neurochem 63(6):2010-2013,
abstract
Sutter, T.R., Tang, Y.M., Hayes, C.L., Wo, Y.Y.P., Jabs, E.W., Li, X., Yin, H., Cody, C.W., and Greenlee, W.F.
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
Biol Chem 269(18):13092-13099
abstract
Wechsler, D.S., Hawkins, A.L., Li, X., Jabs, E.W., Griffin, C.A., and Dang, C.V.
Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25.
Genomics 21(3):669-672
abstract
Yamaoka, L.H., Westbrook, C.A., Speer, M.C., Gilchrist, J.M., Jabs, E.W., Schweins, E.G., Stajich, J.M., Gaskell, P.C., Roses, A.D., and Pericak-Vance, M.A.
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.
Neuromusc Disord 4:471-475
abstract
1993
Arn, P.H., Mankinen, C., and Jabs, E.W.
Mild mandibulofacial dysostosis in a child with a deletion of 3p.
Am J Med Genet 46(5):534-536
abstract
Bowcock, A.M., Gerken, S.C., Barnes, R.I., Shiang, R., Jabs, E.W., Warren, A.C., Antonarakis, S., Retief, A.E., Vergnaud, G., Leppert, M., Lalouel, J.-M., White, R.L., and Cavalli-Sforza, L.L.
The CEPH consortium linkage map of human chromosome 13.
Genomics 16(2):486-496
abstract
Brant, S.R., Bernstein, M., Wasmuth, J.J., Taylor, E.W., McPherson, J.D., Li, X., Walker, S., Pouyssegur, J., Donowitz, M., Tse, C-M., and Jabs, E.W.
Physical and genetic mapping of a human apical epithelial Na+/H+ exchanger (NHE3) isoform to chromosome 5p15.3.
Genomics 15:668-672
abstract
Chang-Yeh, A., Jabs, E.W., Li, X., Dracopoli, N.C., and Huang, R.C.C.
The IPP gene is assigned to human chromosome 1p32-1p22.
Genomics 15:239-241
abstract
Ding, C., Li, X, Griffin, C.A., Jabs, E.W., Hawkins, A.L., and Levine, M.A.
The gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1.
Genomics 18:457-459
abstract
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., and Seldin, M.F.
Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans.
Proc Natl Acad Sci, USA 90:3053-3057
abstract
Griffin, C.A., Ding, C.L., Jabs, E.W., Hawkins, A.L., Li, X., and Levine, M.A.
Human rod cGMP- gated cation channel gene maps to 4p12--> centromere by chromosomal in situ hybridization.
Genomics 16:302-303
abstract
Jabs, E.W., Li, X., Lovett, M., Yamaoka, L.H., Taylor, E., Speer, M.C., Coss, C., Cadle, R., Hall, B., Brown, K., Kidd, K.K., Dolganov, G., Polymeropoulos, M.H., and Meyers, D.A.
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
Genomics 18:7-13
abstract
Jabs, E.W., Müller, U., Li, X., Ma, L., Luo, W., Haworth, I.S., Klisak, I., Sparkes, R., Warman, M.L., Mulliken, J.B., Snead, M.L., and Maxson, R.
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
Cell 75:443-450
abstract
Jabs, E.W., Tuck-Muller, C.M., Anhalt, G.J., Earnshaw, W., Wise, R.A., and Wigley, F.
Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies.
Cytogenet Cell Genet 63:169-175
abstract
Lewanda, A.F., Cohen, M.M. Jr., Hood, J., Morsey, S., Walters, M., Kennedy, J.L., Jr., and Jabs, E.W.
Cytogenetic survey of Apert syndrome: Reevaluation of a translocation (2;9) (p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder.
Am J Dis Child 147:1306-1308
abstract
Moon, C., Preston, G.M., Griffin, C.A., Jabs, E.W., and Agre, P.
The human aquaporin-CHIP gene: Structure, organization, and chromosomal localization.
J Biol Chem 268(21):15772-15778
abstract
Myers, J.C., Sun, M.J., D'Ippolito, J.A., Jabs, E.W., Neilson, E.G., and Dion, A.S.
Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain.
Gene 123(2):211-217
abstract
Percy, M.E., Dearie, T.G., Jabs, E. W., Bauer, S.J., Chodakowski, M.J., Somerville, M.J., Lennox, A., McLachlan, D.R.C., Baldini, A., and Miller, D.A.
Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization.
Am J Med Genet 47:14-19
abstract
Reid, C.S., McMorrow, L.E., McDonald-McGinn, D.M., Grace, K.J., Ramos, F.J., Zackai, E.H., Cohen, M.M. Jr., and Jabs, E.W.
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.
Am J Med Genet 47:637-639
abstract
Surratt, C.K., Persico, A.M., Yang, X.D., Edgar, S.R., Bird, G.S., Hawkins, A.L., Griffin, C.A., Li, X., Jabs, E.W. and Uhl, GR.
A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPs.
FEBS Let 318(3):325-330
abstract
Umbricht, C.B., Erdile, L.F., Jabs, E.W., and Kelly, T.J.
Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A.
J Biol Chem 268(9):6131-6138
abstract
Vamvakopoulos, N.C., Griffin, C.A., Hawkins, A. L., Lee, C., Chrousos, G.P., and Jabs, E.W.
Mapping the intron-containing human hsp90p (HSPCAL4) gene to chromosome band 14q32.
Cytogenet Cell Genet 64:224-226
abstract
1992
Cooper, L.F., Coss, C.A., and Jabs, E.W.
Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), +mar by molecular cytogenetics.
Clin Genet 42:323-325
abstract
Fechner, P.Y., Smith, K.D., Jabs, E.W., Migeon, C.J., and Berkovitz, G.D.
Partial gonadal dysgenesis in a patient with a marker Y chromosome.
Am J Med Genet 42:807-812
abstract
Holden, K.R., Jabs, E.W., and Sponseller, P.D.
Roberts/pseudothalidomide syndrome and normal intelligence; approaches to diagnosis and management.
Dev Med Child Neurology 34(6):534-546
abstract
Huebner, K., Cannizzaro, L.A., Jabs, E.W., Kivirikko, S., Manzone, H., Pihlajaniemi, T., and Myers, J.C.
Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21-->q22.
Genomics 14(2):220-224
abstract
Li, X., Jaye, M., Crumley, G., and Jabs, E.W.
Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5.
Hum Mol Genet 1(3):216
abstract
Sieburth, D., Jabs, E.W., Warrington, J.A., Li, X., Lasota, J., LaForgia, S., Kelleher, K., Huebner, K., Wasmuth, J.J., and Wolf, S.F.
Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5.
Genomics 14:59-62
abstract
Stetten, G., Blakemore, K.J., Courter, A.M., Coss, C.A., and Jabs, E.W.
Prenatal identification of small mosaic markers of different chromosomal origins.
Prenatal Diagnosis 12:83-91
abstract
Vandenbergh, D.J., Persico, A.M., Hawkins, A.L., Griffin, C.A., Li, X., Jabs, E.W., and Uhl, G.R.
Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR.
Genomics 14:1104-1106
abstract
Xiao, L., Celano, P., Mank, A.R., Griffin, C., Jabs, E.W., Hawkins, A.L., and Casero, R.A., Jr.
Structure of the human spermidine/spermine N1-acetyltransferase gene.
Biochem Biophys Res Comm 187:1493-1502
abstract
1991
Arn, P.H., Li, X., Smith, C., Hsu, M., Schwartz, D.C., and Jabs, E.W.
Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes.
Mammalian Genome 1:249-254
abstract
Blanche, H., Zoghbi, H.Y., Jabs, E.W., de Gouyon, B., Zunec, R., Dausset, J, and Cann, H.M.
A centromere-based genetic map of the short arm of human chromosome 6.
Genomics 9:420-428
abstract
Jabs, E.W., Coss, C.A., Hayflick, S.J., Whitmore, T.E., Pauli, R.M., Kirkpatrick, S.J., Meyers, D.A., Goldberg, R., Day, D.W., and Rosenbaum, K.N.
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.
Genomics 11:188-192
abstract
Jabs, E.W., Li, X., Coss, C.A., Taylor E.W., Meyers, D.A., and Weber, J.L.
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
Genomics 11:193-198
abstract
Jabs, E.W., Tuck-Muller, C.M., Cusano, R., and Rattner, J.B.
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.
Chromosoma 100: 251-261
abstract
Jabs, E.W., Warren, A.C., Taylor, E.W., Colyer, C.R., Meyers, D.A., and Antonarakis, S.E.
Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both.
Genomics 9:141-146
abstract
Joziasse, D.H., Shaper, J.H., Jabs, E.W., and Shaper, N.L.
Characterization of an alpha1----3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene.
J Biol Chem 266:6991-6998
abstract
1990
Arn, P.A. and Jabs, E.W.
Chromosome 13, monosomy 13q3
Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 367-368
Arn, P.H. and Jabs, E.W.
Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations.
Mol Biol Med 7:371-377
abstract
Cooper, L.F. and Jabs, E.W.
Chromosome 4, trisomy 4p
Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, p. 337
Finkelstein, J. and Jabs, E.W.
Lipomas, familial symmetric
Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, p.1073
Jabs, D.A. and Jabs, E.W.
Granulomatosis-polysynovitis, familial systemic
Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, p. 811
Martin, L.S. and Jabs, E.W.
Chromosome 5, trisomy 5p
Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, pp. 340-341
Martin, L.S., and Jabs, E.W.
Chromosome 5, trisomy 5q3
Birth Defects Encyclopedia (ed. Buyse, M.L.) Cambridge, MA, Blackwell Scientific Publications, p. 341
Toriello, H.V., Cooper, L.F., and Jabs, E.W.
Aural atresia-dysmorphic facies-skeletal defects
In Birth Defects Encyclopedia (ed. Buyse, M.L.), Cambridge, MA, Blackwell Scientific Publications, p. 212
1989
Arn, P.H., Ketabgian, A.A., Smith, C., Schwartz, D.C., and Jabs, E.W.
The macromolecular organization of human centromeric regions.
Mechanisms of Chromosome Distribution and Aneuploidy, (ed. Resnick, M. and Vig, B.), New York, Alan R. Liss, Inc., pp.1-8
Jabs, E.W., Goble, C.A., and Cutting, G.R.
Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.
Proc Natl Acad Sci, USA 86:202-206
abstract
Jabs, E.W., Tuck-Muller, C.M., Cusano, R., and Rattner, J.B.
Centromere separation and aneuploidy in human mitotic mutants: Roberts Syndrome
Mechanisms of Chromosome Distribution and Aneuploidy (ed, Resnick, M. and Vig, B.), New York, Alan R. Liss, Inc., pp.111-118
1988
Driscoll, D.J., Jabs, E.W., Alcorn, D., Maumenee, I.H., Brusilow, S.W., and Valle, D.
Corneal tyrosine crystals in transient neonatal tyrosinemia.
J Ped 113:91-93
abstract
Jabs, E.W. and Carpenter, N.
Molecular cytogenetic evidence for amplification of chromosome specific alphoid sequences at enlarged C-bands on chromosome 6.
Am J Hum Genet 43:69-74
abstract
Youssoufian, H., Chance P., Tuck-Muller, C.M., and Jabs, E.W.
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.
Hum Genet 78:267-270
abstract
1987
Bartholomew, D.W., Jabs, E.W., Levin, L.S., and Ribovich, R.
Single maxillary central incisor and coloboma in hypomelanosis of Ito.
Clin Genet 32:370-373
abstract
Cooper, L.F. and Jabs, E.W.
Aural atresia associated with multiple congenital anomalies and mental retardation: a new syndrome.
J Ped 110:747-750
abstract
Jabs, E.W. and Persico, M.G.
Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences.
Am J Hum Genet 41:374-390
abstract
1986
Jabs, E.W., Meyers, D.A., and Bias, W.B.
Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes.
Am J Hum Genet 38:297-308
abstract
Van Keuren, M.L., Watkins, P.C., Drabkin, H.A., Jabs, E.W., Gusella, J.F., and Patterson, D.
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
Am J Hum Genet 38:793-804
abstract
1984
Jabs, E.W., Wolf, S.F., and Migeon, B.R.
Characterization of reiterated human DNA with respect to mammalian X chromosome homology.
Somatic Cell Mol Genet 10(1):93-103
abstract
1983
Lavery, M.A., Green, W.R., Jabs, E.W., Luckenbach, M.W., and Cox, J.L.
Ocular histopathology and ultrastructure of Sanfilippos syndrome, type III-B.
Arch Ophthalmol 101(8):1263-1274
abstract
Migeon, B.R., Wolf, S.F., and Jabs, E.W.
Use of X chromosome probes to search for the molecular basis of X chromosome inactivation,
Recombinant DNA and Medical Genetics (eds. Messer, A. and Porter, I.H.), San Diego, Academic Press, pp. 49-55
Mules, E.H., Stamberg, J., Jabs, E.W., and Leonard, C.O.
Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites.
Clin Genet 23:380-385
abstract
Nager, G.T., Stein, S.A., Dorst, J.P., Holliday, M.J., Kennedy, D.W., Diehn, K.W., and Jabs, E.W.
Sclerosteosis involving the temporal bone: clinical and radiologic aspects.
Am J Otolaryngol 4:1-17
abstract
1982
Jabs, E.W., Leonard, C.O., and Phillips J.A.
New features of the McKusick-Kaufman Syndrome in Nyhan,
Dysmorphology: Part B of Birth Defects,Original Article Series, New York: Alan R. Liss, Inc., pp. 161-166
abstract
Jabs, E.W., Stamberg, J., and Leonard, C.O
Tetrasomy 21 in an infant with Down syndrome and congenital leukemia.
Am J Med Genet, 12:91-95
abstract
Stamberg, J., Jabs, E.W., and Elias, E
Terminal deletion (4)(q33) in a male infant.
Clin Genet 21:125-129
abstract
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Last Updated:
9/5/02
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