Molecular genetics and craniofacial surgery.
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
Authors: Authors: Muragaki Y, Mariman EC, van Beersum SE, Perälä M, van Mourik JB, Warman ML, Olsen BR, Hamel BC.
Nat Genet
View full abstract on Pubmed
Nat Genet
View full abstract on Pubmed
Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.
Authors: Authors: Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al.
Genomics
View full abstract on Pubmed
Genomics
View full abstract on Pubmed
Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management.
Authors: Authors: North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, Warman ML.
J Pediatr
View full abstract on Pubmed
J Pediatr
View full abstract on Pubmed
A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
Authors: Authors: Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helmbold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, et al.
J Med Genet
View full abstract on Pubmed
J Med Genet
View full abstract on Pubmed
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis.
Authors: Authors: Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, Oxford JT, Morris NP, Andrikopoulos K, Ramirez F, et al.
Cell
View full abstract on Pubmed
Cell
View full abstract on Pubmed
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.
Authors: Authors: Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR.
Hum Mol Genet
View full abstract on Pubmed
Hum Mol Genet
View full abstract on Pubmed
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
Authors: Authors: Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, et al.
Am J Hum Genet
View full abstract on Pubmed
Am J Hum Genet
View full abstract on Pubmed
Assignment of a locus for dominantly inherited venous malformations to chromosome 9p.
Authors: Authors: Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, Warman ML.
Hum Mol Genet
View full abstract on Pubmed
Hum Mol Genet
View full abstract on Pubmed
The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4.
Authors: Authors: Warman ML, McCarthy MT, Perälä M, Vuorio E, Knoll JH, McDaniels CN, Mayne R, Beier DR, Olsen BR.
Genomics
View full abstract on Pubmed
Genomics
View full abstract on Pubmed