Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Authors: Authors: Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N.
Am J Hum Genet
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Am J Hum Genet
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Autosomal dominant acute necrotizing encephalopathy.
Authors: Authors: Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS.
Neurology
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Neurology
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Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
Authors: Authors: Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W.
Am J Hum Genet
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Am J Hum Genet
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Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.
Authors: Authors: Falk MJ, Heeger S, Lynch KA, DeCaro KR, Bohach D, Gibson KS, Warman ML.
Pediatrics
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Pediatrics
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Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
Authors: Authors: Savarirayan R, White SM, Goodman FR, Graham JM, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML.
Am J Med Genet A
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Am J Med Genet A
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
Authors: Authors: Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L.
Eur J Hum Genet
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Eur J Hum Genet
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The mutational spectrum of brachydactyly type C.
Authors: Authors: Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML.
Am J Med Genet
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Am J Med Genet
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A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
Authors: Authors: McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE.
Hum Genet
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Hum Genet
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The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Authors: Authors: Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM.
Am J Hum Genet
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Am J Hum Genet
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Significant difference of opinion regarding the role of noggin in fibrodysplasia ossificans progressiva.