Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

par Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D
Publié 2012

Mutations in FLNB cause boomerang dysplasia

par Bicknell, L, Morgan, T, Bonafe, L, Wessels, M, Bialer, M, Willems, P, Cohn, D, Krakow, D, Robertson, S
Publié 2005

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

par Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
Publié dans Clin Genet (2017)

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

par Krakow, D, Reinker, K, Powell, B, Cantor, R, Priore, M A, Garber, A, Lachman, R S, Rimoin, D L, Cohn, D H
Publié 1998

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

par Winer, N., Kyndt, F., Paumier, A., David, A., Isidor, B., Quentin, M., Jouitteau, B., Sanyas, P., Philippe, H. J., Hernandez, A., Krakow, D., Le Caignec, C.
Publié 2009

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

par Colige, A, Sieron, A L, Li, S W, Schwarze, U, Petty, E, Wertelecki, W, Wilcox, W, Krakow, D, Cohn, D H, Reardon, W, Byers, P H, Lapière, C M, Prockop, D J, Nusgens, B V
Publié 1999

Delivery by Cesarean Section is not Associated With Decreased at-Birth Fracture Rates in Osteogenesis Imperfecta

par Bellur, S, Jain, M, Cuthbertson, D, Krakow, D, Shapiro, JR, Steiner, RD, Smith, PA, Bober, MB, Hart, T, Krischer, J, Mullins, M, Byers, PH, Pepin, M, Durigova, M, Glorieux, FH, Rauch, F, Sutton, VR, Lee, B, Nagamani, SC
Publié dans Genet Med (2015)

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

par Steiner, C, Ehtesham, N, Taylor, K, Sebald, E, Cantor, R, King, L, Guo, X, Hang, T, Hu, M, Cui, J, Friedman, B, Norato, D, Allanson, J, Honeywell, C, Mettler, G, Field, F, Lachman, R, Cohn, D, Krakow, D
Publié 2004

Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood

par Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J.J.P., Malfait, F., Staal, H., ten Have, L.C., Blaauw, J., Roggeveen, H.C.J., Krakow, D., De Paepe, A., van Steensel, M.A.M., Pals, G., Graham, J. M., Schrander-Stumpel, C.T.R.M.
Publié 2011