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William Wilcox

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Amy Merrill; Haynes Robinson; Anna Sarukhanov; William R Wilcox; Natalia Camacho; David Chitayat; Cynthia J Curry; Hannah Deixler; Kristine D Estrada; Brian Idoni; Pavel Krejci; Ralph S Lachman; Karen M Lyons; Deborah Krakow
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
William R Wilcox; Dana Beitner-Johnson; Marta Cizmarik; J Alexander Cole; Ulla Feldt-Rasmussen; Dominique P Germain; Wytske Kingma; Gabor E Linthorst; Susan M Richards; Stephen Waldek; David G Warnock
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Pavel Krejci; Jan Kukla Masek; Pavol Mikolka; William A Paznekas; Tereza Pospisilova; Jirina Prochazkova; Lisa Salazar; Eva Sevcikova; Tereza Spoustova; Iva Vesela; MaryAnn Weis; William R Wilcox; Joshua H Wolf; Vítezslav Bryja; J Silvio Gutkind; Ethylin Jabs; Marketa Kaucka; Alois Kozubik; Anie Aklian; Lukas Balek
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

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All Publications

2012: Amy Merrill; Haynes Robinson; Anna Sarukhanov; William R Wilcox; Natalia Camacho; David Chitayat; Cynthia J Curry; Hannah Deixler; Kristine D Estrada; Brian Idoni; Pavel Krejci; Ralph S Lachman; Karen M Lyons; Deborah Krakow
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
American journal of human genetics 2012;90(3):550-7.
2012: William R Wilcox; Dana Beitner-Johnson; Marta Cizmarik; J Alexander Cole; Ulla Feldt-Rasmussen; Dominique P Germain; Wytske Kingma; Gabor E Linthorst; Susan M Richards; Stephen Waldek; David G Warnock
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Molecular genetics and metabolism 2012;105(3):443-9.
2012: Pavel Krejci; Jan Kukla Masek; Pavol Mikolka; William A Paznekas; Tereza Pospisilova; Jirina Prochazkova; Lisa Salazar; Eva Sevcikova; Tereza Spoustova; Iva Vesela; MaryAnn Weis; William R Wilcox; Joshua H Wolf; Vítezslav Bryja; J Silvio Gutkind; Ethylin Jabs; Marketa Kaucka; Alois Kozubik; Anie Aklian; Lukas Balek
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.
PloS one 2012;7(4):e35826.
2011: Eyal Reinstein; Raymond Y Wang; Ling Zhan; David L Rimoin; William R Wilcox
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.
American journal of medical genetics. Part A 2011;155A(4):742-7.
2011: Igor Červenka; Joshua Wolf; Jan Mašek; Pavel Krejci; William R Wilcox; Alois Kozubík; Gunnar Schulte; J Silvio Gutkind; Vítezslav Bryja
Mitogen-activated protein kinases promote WNT/beta-catenin signaling via phosphorylation of LRP6.
Molecular and cellular biology 2011;31(1):179-89.
2010: Stuart W Tompson; Carlos A Bacino; Nicole P Safina; Michael B Bober; Virginia K Proud; Tara Funari; Michael F Wangler; Lisette Nevarez; Leena Ala-Kokko; William R Wilcox; David R Eyre; Deborah Krakow; Daniel H Cohn
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
American journal of human genetics 2010;87(5):708-12.
2010: Vincent A Funari; Deborah Krakow; Lisette Nevarez; Zugen Chen; Tara L Funari; Nithiwat Vatanavicharn; William R Wilcox; David L Rimoin; Stanley F Nelson; Daniel H Cohn
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
American journal of human genetics 2010;87(4):532-7.
2010: Pavel Krejci; Shunichi Murakami; Jirina Prochazkova; Lukas Trantirek; Katarina Chlebova; Zhufeng Ouyang; Anie Aklian; Jiri Smutny; Vítezslav Bryja; Alois Kozubik; William R Wilcox
NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells.
The Journal of biological chemistry 2010;285(27):20644-53.
2010: Pavel Krejci; Jirina Prochazkova; Jiri Smutny; Katarina Chlebova; Patricia Lin; Anie Aklian; Vítezslav Bryja; Alois Kozubik; William R Wilcox
FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence.
Bone 2010;47(1):102-10.
2010: Justina C Wu; Carolyn Y Ho; Hicham Skali; Rekha Abichandani; William R Wilcox; Maryam Banikazemi; Seymour Packman; Katherine Sims; Scott D Solomon
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
European heart journal 2010;31(9):1088-97.
2009: Pavel Krejci; Jirina Prochazkova; Vitezslav Bryja; Alois Kozubik; William R Wilcox
Molecular pathology of the fibroblast growth factor family.
Human mutation 2009;30(9):1245-55.
2009: Raphael Schiffmann; David G Warnock; Maryam Banikazemi; Jan Bultas; Gabor E Linthorst; Seymour Packman; Sven Asger Sorensen; William R Wilcox; Robert J Desnick
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(7):2102-11.
2009: Lisa Salazar; Tamara Kashiwada; Pavel Krejci; Paul Muchowski; Daniel Donoghue; William R Wilcox; Leslie Michels Thompson
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.
Human molecular genetics 2009;18(11):1951-61.
2009: Pavel Krejci; Jirina Prochazkova; Vítezslav Bryja; Petra Jelinkova; Katerina Pejchalova; Alois Kozubik; Leslie Michels Thompson; William R Wilcox
Fibroblast growth factor inhibits interferon gamma-STAT1 and interleukin 6-STAT3 signaling in chondrocytes.
Cellular signalling 2009;21(1):151-60.
2009: K Chlebova; Vítezslav Bryja; Petr Dvorak; A Kozubik; William R Wilcox; Pavel Krejci
High molecular weight FGF2: the biology of a nuclear growth factor.
Cellular and molecular life sciences : CMLS 2009;66(2):225-35.
2008: Robert J Hopkin; John Bissler; Maryam Banikazemi; Lorne Clarke; Christine M Eng; Dominique P Germain; Roberta Lemay; Anna Tylki-Szymanska; William R Wilcox
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
Pediatric research 2008;64(5):550-5.
2008: Deborah Krakow; Yasemin Alanay; Lauren P Rimoin; Victoria Lin; William R Wilcox; Ralph S Lachman; David L Rimoin
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
American journal of medical genetics. Part A 2008;146A(15):1917-24.
2008: Matthew J Rock; Jean Prenen; Vincent A Funari; Tara L Funari; Barry Merriman; Stanley F Nelson; Ralph S Lachman; William R Wilcox; Soraya Reyno; Roberto Quadrelli; Alicia Vaglio; Grzegorz Owsianik; Annelies Janssens; Thomas Voets; Shiro Ikegawa; Toshiro Nagai; David L Rimoin; Bernd Nilius; Daniel H Cohn
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Nature genetics 2008;40(8):999-1003.
2008: Pavel Krejci; Lisa Salazar; Helen Goodridge; Tamara A Kashiwada; Matthew J Schibler; Petra Jelinkova; Leslie Michels Thompson; William R Wilcox
STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes.
Journal of cell science 2008;121(Pt 3):272-81.
2008: William R Wilcox; João Paulo Oliveira; Robert J Hopkin; alberto ortiz; Maryam Banikazemi; Ulla Feldt-Rasmussen; Katherine Sims; Stephen Waldek; Gregory M Pastores; Philip Lee; Christine M Eng; Laszlo Marodi; Kevin E Stanford; Frank Breunig; Christoph Wanner; David G Warnock; Roberta M Lemay; Dominique P Germain
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Molecular genetics and metabolism 2008;93(2):112-28.
2007: Moise Danielpour; William R Wilcox; Yasemin Alanay; Barry D Pressman; David L Rimoin
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.
Journal of neurosurgery 2007;107(6 Suppl):504-7.
2007: Pavel Krejci; Katerina Pejchalova; Barry E Rosenbloom; Fred P Rosenfelt; Elizabeth L Tran; Henrik Laurell; William R Wilcox
The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemia.
Journal of leukocyte biology 2007;82(6):1363-4.
2007: David L Rimoin; Daniel Cohn; Deborah Krakow; William R Wilcox; Ralph S Lachman; Yasemin Alanay
The skeletal dysplasias: clinical-molecular correlations.
Annals of the New York Academy of Sciences 2007;1117():302-9.
2007: Katerina Pejchalova; Pavel Krejci; William R Wilcox
C-natriuretic peptide: an important regulator of cartilage.
Molecular genetics and metabolism 2007;92(3):210-5.
2007: Nithiwat Vatanavicharn; John M Graham; Cynthia J R Curry; Samuel Pepkowitz; Ralph S Lachman; David L Rimoin; William R Wilcox
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.
American journal of medical genetics. Part A 2007;143A(19):2292-302.
2007: Pavel Krejci; Katerina Pejchalova; William R Wilcox
Simple, mammalian cell-based assay for identification of inhibitors of the Erk MAP kinase pathway.
Investigational new drugs 2007;25(4):391-5.
2007: Dominique P Germain; Stephen Waldek; Maryam Banikazemi; David A Bushinsky; Joel Charrow; Robert J Desnick; Philip Lee; Thomas Loew; Anouk C Vedder; Rekha Abichandani; William R Wilcox; Nathalie Guffon
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
Journal of the American Society of Nephrology : JASN 2007;18(5):1547-57.
2007: Christine M Eng; J Fletcher; William R Wilcox; Stephen Waldek; C Ronald Scott; D O Sillence; F Breunig; Joel Charrow; Dominique P Germain; K Nicholls; Maryam Banikazemi
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.
Journal of inherited metabolic disease 2007;30(2):184-92.
2007: Pavel Krejci; Deborah Krakow; Pertchoui B Mekikian; William R Wilcox
Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage.
Pediatric research 2007;61(3):267-72.
2007: Pavel Krejci; Bernard Masri; Lisa Salazar; Claire Farrington-Rock; Hervé Prats; Leslie Michels Thompson; William R Wilcox
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.
The Journal of biological chemistry 2007;282(5):2929-36.
2007: Maryam Banikazemi; Jan Bultas; Stephen Waldek; William R Wilcox; Chester Whitley; Marie McDonald; Richard Finkel; Seymour Packman; Daniel G Bichet; David G Warnock; Robert J Desnick
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
Annals of internal medicine 2007;146(2):77-86.
2006: Christine M Eng; Dominique P Germain; Maryam Banikazemi; David G Warnock; Christoph Wanner; Robert J Hopkin; Jan Bultas; Philip Lee; Katherine Sims; Scott E Brodie; Gregory M Pastores; Jörg Strotmann; William R Wilcox
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(9):539-48.
2006: Gregory Bierer; David Balfe; William R Wilcox; Zab Mosenifar
Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease.
Journal of inherited metabolic disease 2006;29(4):572-9.
2006: Pavel Krejci; Pertchoui B Mekikian; William R Wilcox
The fibroblast growth factors in multiple myeloma.
Leukemia 2006;20(6):1165-8.
2005: Pavel Krejci; Bernard Masri; Vincent Fontaine; Pertchoui B Mekikian; Maryann Weis; Hervé Prats; William R Wilcox
Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis.
Journal of cell science 2005;118(Pt 21):5089-100.
2005: Gregory Bierer; Nader Kamangar; David Balfe; William R Wilcox; Zab Mosenifar
Cardiopulmonary exercise testing in Fabry disease.
Respiration; international review of thoracic diseases 2005;72(5):504-11.
2005: Qiping Zheng; Eiman Sebald; Guang Zhou; Yuqing Chen; William R Wilcox; Brendan Lee; Deborah Krakow
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
American journal of human genetics 2005;77(2):305-12.
2005: Vishal K Agarwal; Ralph S Lachman; David L Rimoin; William R Wilcox
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.
American journal of medical genetics. Part A 2005;136(3):233-41.
2005: William R Wilcox; David A Wenger; Ralph S Lachman; David L Rimoin
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].
American journal of medical genetics. Part A 2005;135(3):333.
2005: Anne Slavotinek; Jill Goldman; Kara Weisiger; Dana Kostiner; Mahin Golabi; Seymour Packman; William R Wilcox; H Eugene Hoyme; Elliott H Sherr
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
American journal of medical genetics. Part A 2005;133A(2):197-201.
2004: Yuji Takamine; Pavel Krejci; Pertchoui B Mekikian; William R Wilcox
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
American journal of medical genetics. Part A 2004;130A(1):96-7.
2004: Stephanie E Wallace; Ralph S Lachman; Pertchoui B Mekikian; Kathy K Bui; William R Wilcox
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
American journal of medical genetics. Part A 2004;129A(3):235-47.
2004: Pavel Krejci; Vítezslav Bryja; Jiri Pachernik; Ales Hampl; Robert Pogue; Pertchoui B Mekikian; William R Wilcox
FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells.
Experimental cell research 2004;297(1):152-64.
2004: William R Wilcox; Maryam Banikazemi; Nathalie Guffon; Stephen Waldek; Philip Lee; Gabor E Linthorst; Robert J Desnick; Dominique P Germain
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.
American journal of human genetics 2004;75(1):65-74.
2004: William R Wilcox
Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.
The Journal of pediatrics 2004;144(5 Suppl):S3-14.
2003: Robert J Desnick; Roscoe Brady; John A Barranger; Allan J Collins; Dominique P Germain; Martin Goldman; Gregory A Grabowski; Seymour Packman; William R Wilcox
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Annals of internal medicine 2003;138(4):338-46.
2002: Alison M Elliott; Marie Gonzales; Jean-Claude Hoeffel; Martine Le Merrer; Pierre Maroteaux; Férechté Encha-Razavi; Nicole Joye; Colette Berchel; Christian Fliegel; David J Aughton; Kelly Beaudry-Rodgers; Farnez Hasteh; Andreas G Nerlich; William R Wilcox; David L Rimoin; Ralph S Lachman; Peter Freisinger
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
American journal of medical genetics 2002;109(2):139-48.
2001: C M Eng; Nathalie Guffon; William R Wilcox; Dominique P Germain; P Lee; Stephen Waldek; L Caplan; Gabor E Linthorst; Robert J Desnick
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.
The New England journal of medicine 2001;345(1):9-16.
2001: Valérie Cormier-Daire; R Savarirayan; Ralph S Lachman; Julie Neidich; K Grace; David L Rimoin; William R Wilcox
"Baby rattle" pelvis dysplasia.
American journal of medical genetics 2001;100(1):37-42.
2001: D N Schweitzer; John M Graham; Ralph S Lachman; Ethylin Jabs; K Okajima; KA Przylepa; Alan L Shanske; K Chen; Julie Neidich; William R Wilcox
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
American journal of medical genetics 2001;98(1):75-91.
2000: Roberto Quadrelli; Alicia Vaglio; S Reyno; A Lemes; D Salazar; R S Lachman; William R Wilcox
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.
American journal of medical genetics 2000;95(3):247-65.
2000: R Savarirayan; Valérie Cormier-Daire; S Unger; Ralph S Lachman; P J Roughley; S F Wagner; David L Rimoin; William R Wilcox
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
American journal of medical genetics 2000;95(3):193-200.
2000: Deborah Krakow; D Salazar; William R Wilcox; David L Rimoin; Daniel H Cohn
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
European journal of human genetics : EJHG 2000;8(8):645-8.
1999: Alain Colige; A L Sieron; Shi-Wu Li; Ulrike Schwarze; Elizabeth M Petty; W Wertelecki; William R Wilcox; Deborah Krakow; Daniel H Cohn; W Reardon; Peter H Byers; Charles M Lapière; Darwin J Prockop; Betty Nusgens
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
American journal of human genetics 1999;65(2):308-17.
1999: Douglas J Wilkin; A S Artz; S South; Ralph S Lachman; David L Rimoin; William R Wilcox; Victor A McKusick; Constantine Straturis; Clair A Francomano; Daniel H Cohn
Small deletions in the type II collagen triple helix produce kniest dysplasia.
American journal of medical genetics 1999;85(2):105-12.
1999: GA Bellus; Michael Bamshad; KA Przylepa; J Dorst; Roland R Lee; O Hurko; Ethylin Jabs; Cynthia J R Curry; William R Wilcox; Ralph S Lachman; David L Rimoin; Clair A Francomano
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.
American journal of medical genetics 1999;85(1):53-65.
1999: SG Brodie; H Kitoh; Ralph S Lachman; L M Nolasco; Pertchoui B Mekikian; William R Wilcox
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
American journal of medical genetics 1999;84(5):476-80.
1999: SG Brodie; Ralph S Lachman; M M McGovern; Pertchoui B Mekikian; William R Wilcox
Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.
American journal of medical genetics 1999;83(5):372-7.
1999: P L Tavormina; GA Bellus; MK Webster; Michael Bamshad; A E Fraley; Iain McIntosh; J Szabo; W Jiang; Ethylin Jabs; William R Wilcox; JJ Wasmuth; Daniel J Donoghue; Leslie Michels Thompson; Clair A Francomano
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
American journal of human genetics 1999;64(3):722-31.
1999: Emmanuèle C Délot; Lily M King; Michael D Briggs; William R Wilcox; Daniel H Cohn
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
Human molecular genetics 1999;8(1):123-8.
1998: SG Brodie; Ralph S Lachman; A F Jewell; C L Winkler; L Nolasco; William R Wilcox
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs.
American journal of medical genetics 1998;80(4):423-8.
1998: SG Brodie; H Kitoh; MH Lipson; M Sifry-Platt; William R Wilcox
Thanatophoric dysplasia type I with syndactyly.
American journal of medical genetics 1998;80(3):260-2.
1998: SG Brodie; Ralph S Lachman; Barbara Crandall; MA Fox; David L Rimoin; Daniel H Cohn; William R Wilcox
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.
American journal of medical genetics 1998;80(3):247-51.
1998: Emmanuèle C Délot; S G Brodie; Lily M King; William R Wilcox; Daniel H Cohn
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture.
The Journal of biological chemistry 1998;273(41):26692-7.
1998: H Kitoh; Ralph S Lachman; SG Brodie; Pertchoui B Mekikian; David L Rimoin; William R Wilcox
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
Pediatric radiology 1998;28(10):759-63.
1998: Russell J Fernandes; Douglas J Wilkin; Mary Ann Weis; William R Wilcox; Daniel H Cohn; David L Rimoin; David R Eyre
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Archives of biochemistry and biophysics 1998;355(2):282-90.
1998: William R Wilcox; P L Tavormina; Deborah Krakow; H Kitoh; Ralph S Lachman; JJ Wasmuth; Leslie Michels Thompson; David L Rimoin
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
American journal of medical genetics 1998;78(3):274-81.
1998: William R Wilcox; B C Lucas; B Loebel; R P Bachman; Ralph S Lachman; David L Rimoin
Pacman dysplasia: report of two affected sibs.
American journal of medical genetics 1998;77(4):272-6.
1998: Mary Ann Weis; Douglas J Wilkin; H J Kim; William R Wilcox; Ralph S Lachman; David L Rimoin; Daniel H Cohn; David R Eyre
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
The Journal of biological chemistry 1998;273(8):4761-8.
1998: Michael D Briggs; Geert R Mortier; William G Cole; Lily M King; S S Golik; J Bonaventure; Lieve Nuytinck; Anne De Paepe; Jules G Leroy; L Biesecker; MH Lipson; William R Wilcox; Ralph S Lachman; David L Rimoin; RG Knowlton; Daniel H Cohn
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
American journal of human genetics 1998;62(2):311-9.
1998: H Kitoh; SG Brodie; K G Kupke; Ralph S Lachman; William R Wilcox
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
Human mutation 1998;12(5):362-3.
1996: Daniel H Cohn; Michael D Briggs; Lily M King; David L Rimoin; William R Wilcox; Ralph S Lachman; R G Knowlton
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Annals of the New York Academy of Sciences 1996;785():188-94.
1995: P L Tavormina; R Shiang; Leslie Michels Thompson; Y Z Zhu; Douglas J Wilkin; Ralph S Lachman; William R Wilcox; David L Rimoin; Daniel H Cohn; JJ Wasmuth
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Nature genetics 1995;9(3):321-8.
1995: Geert R Mortier; Douglas J Wilkin; William R Wilcox; David L Rimoin; Ralph S Lachman; David R Eyre; Daniel H Cohn
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
Human molecular genetics 1995;4(2):285-8.