PubMed

Molecular pathology of the fibroblast growth factor family.

Krejci P, Prochazkova J, Bryja V, Kozubik A, Wilcox WR.

Hum Mutat. 2009 Sep;30(9):1245-55. Review.PMID: 19621416 [PubMed - indexed for MEDLINE]Related articles

A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells.

Salazar L, Kashiwada T, Krejci P, Muchowski P, Donoghue D, Wilcox WR, Thompson LM.

Hum Mol Genet. 2009 Jun 1;18(11):1951-61. Epub 2009 Mar 13.PMID: 19286672 [PubMed - indexed for MEDLINE]Related articles

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ.

Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. Epub 2009 Feb 13.PMID: 19218538 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.

Krejci P, Salazar L, Kashiwada TA, Chlebova K, Salasova A, Thompson LM, Bryja V, Kozubik A, Wilcox WR.

PLoS One. 2008;3(12):e3961. Epub 2008 Dec 17.PMID: 19088846 [PubMed - indexed for MEDLINE]Related articlesFree article

Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.

Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR.

Mol Genet Metab. 2009 Feb;96(2):S3-5. Epub 2008 Dec 10. No abstract available. PMID: 19083251 [PubMed - indexed for MEDLINE]Related articles

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S.

Nat Genet. 2008 Dec;40(12):1410-2. Epub 2008 Nov 9.PMID: 18997784 [PubMed - indexed for MEDLINE]Related articles

Fibroblast growth factor inhibits interferon gamma-STAT1 and interleukin 6-STAT3 signaling in chondrocytes.

Krejci P, Prochazkova J, Bryja V, Jelinkova P, Pejchalova K, Kozubik A, Thompson LM, Wilcox WR.

Cell Signal. 2009 Jan;21(1):151-60. Epub 2008 Oct 12.PMID: 18950705 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.

Wang RY, Abe JT, Cohen AH, Wilcox WR.

J Inherit Metab Dis. 2008 Oct 21. [Epub ahead of print]PMID: 18937048 [PubMed - as supplied by publisher]Related articles

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S.

Hum Mol Genet. 2009 Jan 15;18(2):227-40. Epub 2008 Oct 15.PMID: 18923003 [PubMed - indexed for MEDLINE]Related articles

High molecular weight FGF2: the biology of a nuclear growth factor.

Chlebova K, Bryja V, Dvorak P, Kozubik A, Wilcox WR, Krejci P.

Cell Mol Life Sci. 2009 Jan;66(2):225-35. Review.PMID: 18850066 [PubMed - indexed for MEDLINE]Related articles

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL.

Am J Med Genet A. 2008 Aug 1;146A(15):1917-24.PMID: 18627037 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR.

Pediatr Res. 2008 Nov;64(5):550-5.PMID: 18596579 [PubMed - indexed for MEDLINE]Related articles

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.

Nat Genet. 2008 Aug;40(8):999-1003. Epub 2008 Jun 29.PMID: 18587396 [PubMed - indexed for MEDLINE]Related articles

Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.

Vatanavicharn N, Pressman BD, Wilcox WR.

J Inherit Metab Dis. 2008 Jan 22. [Epub ahead of print]PMID: 18210212 [PubMed - as supplied by publisher]Related articles

STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes.

Krejci P, Salazar L, Goodridge HS, Kashiwada TA, Schibler MJ, Jelinkova P, Thompson LM, Wilcox WR.

J Cell Sci. 2008 Feb 1;121(Pt 3):272-81. Epub 2008 Jan 15.PMID: 18198189 [PubMed - indexed for MEDLINE]Related articlesFree article

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.

Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL.

J Neurosurg. 2007 Dec;107(6 Suppl):504-7.PMID: 18154022 [PubMed - indexed for MEDLINE]Related articles

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry.

Mol Genet Metab. 2008 Feb;93(2):112-28. Epub 2007 Nov 26.PMID: 18037317 [PubMed - indexed for MEDLINE]Related articles

The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemia.

Krejci P, Pejchalova K, Rosenbloom BE, Rosenfelt FP, Tran EL, Laurell H, Wilcox WR.

J Leukoc Biol. 2007 Dec;82(6):1363-4. Epub 2007 Sep 7. No abstract available. PMID: 17827341 [PubMed - indexed for MEDLINE]Related articlesFree article

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2007 Oct 1;143A(19):2292-302.PMID: 17764081 [PubMed - indexed for MEDLINE]Related articles

C-natriuretic peptide: an important regulator of cartilage.

Pejchalova K, Krejci P, Wilcox WR.

Mol Genet Metab. 2007 Nov;92(3):210-5. Epub 2007 Aug 6. Review.PMID: 17681481 [PubMed - indexed for MEDLINE]Related articles

Simple, mammalian cell-based assay for identification of inhibitors of the Erk MAP kinase pathway.

Krejci P, Pejchalova K, Wilcox WR.

Invest New Drugs. 2007 Aug;25(4):391-5. Epub 2007 Apr 26.PMID: 17458503 [PubMed - indexed for MEDLINE]Related articles

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N.

J Am Soc Nephrol. 2007 May;18(5):1547-57. Epub 2007 Apr 4.PMID: 17409312 [PubMed - indexed for MEDLINE]Related articlesFree article

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M.

J Inherit Metab Dis. 2007 Apr;30(2):184-92. Epub 2007 Mar 8.PMID: 17347915 [PubMed - indexed for MEDLINE]Related articles

Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage.

Krejci P, Krakow D, Mekikian PB, Wilcox WR.

Pediatr Res. 2007 Mar;61(3):267-72.PMID: 17314681 [PubMed - indexed for MEDLINE]Related articles

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

Wang RY, Lelis A, Mirocha J, Wilcox WR.

Genet Med. 2007 Jan;9(1):34-45.PMID: 17224688 [PubMed - indexed for MEDLINE]Related articles

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.

Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group.

Ann Intern Med. 2007 Jan 16;146(2):77-86. Epub 2006 Dec 18.PMID: 17179052 [PubMed - indexed for MEDLINE]Related articlesFree article

Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins.

Krejci P, Masri B, Salazar L, Farrington-Rock C, Prats H, Thompson LM, Wilcox WR.

J Biol Chem. 2007 Feb 2;282(5):2929-36. Epub 2006 Dec 4.PMID: 17145761 [PubMed - indexed for MEDLINE]Related articlesFree article

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR.

Genet Med. 2006 Sep;8(9):539-48. Review.PMID: 16980809 [PubMed - indexed for MEDLINE]Related articles

Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease.

Bierer G, Balfe D, Wilcox WR, Mosenifar Z.

J Inherit Metab Dis. 2006 Aug;29(4):572-9.PMID: 16817011 [PubMed - indexed for MEDLINE]Related articles

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.

Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS.

Am J Med Genet A. 2006 Jul 15;140(14):1553-63.PMID: 16770805 [PubMed - indexed for MEDLINE]Related articles

The fibroblast growth factors in multiple myeloma.

Krejci P, Mekikian PB, Wilcox WR.

Leukemia. 2006 Jun;20(6):1165-8. No abstract available. PMID: 16598309 [PubMed - indexed for MEDLINE]Related articles

Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis.

Krejci P, Masri B, Fontaine V, Mekikian PB, Weis M, Prats H, Wilcox WR.

J Cell Sci. 2005 Nov 1;118(Pt 21):5089-100. Epub 2005 Oct 18.PMID: 16234329 [PubMed - indexed for MEDLINE]Related articlesFree article

Cardiopulmonary exercise testing in Fabry disease.

Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z.

Respiration. 2005 Sep-Oct;72(5):504-11.PMID: 16210890 [PubMed - indexed for MEDLINE]Related articlesFree article

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.

Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2005 Jul 30;136(3):233-41. Review.PMID: 15954110 [PubMed - indexed for MEDLINE]Related articles

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].

Wilcox WR, Wenger DA, Lachman RS, Rimoin DL.

Am J Med Genet A. 2005 Jun 15;135(3):333. No abstract available. PMID: 15887286 [PubMed - indexed for MEDLINE]Related articles

Differentiating campomelic dysplasia from Cumming syndrome.

Watiker V, Lachman RS, Wilcox WR, Barroso I, Schafer AJ, Scherer G.

Am J Med Genet A. 2005 May 15;135(1):110-2. No abstract available. PMID: 15754354 [PubMed - indexed for MEDLINE]Related articles

Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.

Takamine Y, Krejci P, Mekikian PB, Wilcox WR.

Am J Med Genet A. 2004 Sep 15;130A(1):96-7. No abstract available. PMID: 15368503 [PubMed - indexed for MEDLINE]Related articles

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR.

Am J Med Genet A. 2004 Sep 1;129A(3):235-47.PMID: 15326622 [PubMed - indexed for MEDLINE]Related articles

FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells.

Krejci P, Bryja V, Pachernik J, Hampl A, Pogue R, Mekikian P, Wilcox WR.

Exp Cell Res. 2004 Jul 1;297(1):152-64.PMID: 15194433 [PubMed - indexed for MEDLINE]Related articles

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.

Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP; International Fabry Disease Study Group.

Am J Hum Genet. 2004 Jul;75(1):65-74. Epub 2004 May 20.PMID: 15154115 [PubMed - indexed for MEDLINE]Related articlesFree article

Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.

Wilcox WR.

J Pediatr. 2004 May;144(5 Suppl):S3-14. Review. No abstract available. PMID: 15126978 [PubMed - indexed for MEDLINE]Related articles

Fabry disease in a renal allograft.

Puliyanda DP, Wilcox WR, Bunnapradist S, Nast CC, Jordan SC.

Am J Transplant. 2003 Aug;3(8):1030-2.PMID: 12859541 [PubMed - indexed for MEDLINE]Related articles

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC.

Am J Hum Genet. 2003 Apr;72(4):1013-7. Epub 2003 Feb 28.PMID: 12618959 [PubMed - indexed for MEDLINE]Related articlesFree article

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR.

Ann Intern Med. 2003 Feb 18;138(4):338-46. Review.PMID: 12585833 [PubMed - indexed for MEDLINE]Related articlesFree article

Prenatal cortical hyperostosis (Caffey disease).

Savarirayan R, Cormier-Daire V, Amor DJ, Wilcox WR, Lachman RS, Rimoin DL.

Pediatr Radiol. 2002 Sep;32(9):694. No abstract available. PMID: 12422848 [PubMed - indexed for MEDLINE]Related articles

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P.

Am J Med Genet. 2002 Apr 22;109(2):139-48.PMID: 11977163 [PubMed - indexed for MEDLINE]Related articles

Orthopaedic manifestations of Marinesco-Sjögren syndrome.

Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B, Wilcox WR.

J Pediatr Orthop. 2002 May-Jun;22(3):399-403.PMID: 11961464 [PubMed - indexed for MEDLINE]Related articles

Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development.

Arikawa-Hirasawa E, Wilcox WR, Yamada Y.

Am J Med Genet. 2001 Winter;106(4):254-7. Review.PMID: 11891676 [PubMed - indexed for MEDLINE]Related articles

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.

Pace JM, Chitayat D, Atkinson M, Wilcox WR, Schwarze U, Byers PH.

J Med Genet. 2002 Jan;39(1):23-9.PMID: 11826020 [PubMed - indexed for MEDLINE]Related articlesFree article

Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.

Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ; International Collaborative Fabry Disease Study Group.

N Engl J Med. 2001 Jul 5;345(1):9-16.PMID: 11439963 [PubMed - indexed for MEDLINE]Related articlesFree article