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

по Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D
Опубликовано 2012

Mutations in FLNB cause boomerang dysplasia

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

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

по Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.
Опубликовано в: Clin Genet (2017)

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

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

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

по 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.
Опубликовано 2009

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

по 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
Опубликовано 1999

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

по 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
Опубликовано в: Genet Med (2015)

A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

по 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
Опубликовано 2004

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

по 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.
Опубликовано 2011