A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).

Por Du, Y Z, Dickerson, C, Aylsworth, A S, Schwartz, C E
Publicado em 1998

Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.

Por Estabrooks, L L, Lamb, A N, Aylsworth, A S, Callanan, N P, Rao, K W
Publicado em 1994

P63 mutations are not a major cause of non-syndromic split hand/foot malformation

Por de Mollerat, X J, Everman, D, Morgan, C, Clarkson, K, Rogers, R, Colby, R, Aylsworth, A, Graham, J, Stevenson, R, Schwartz, C
Publicado em 2003

Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.

Por Diehl, S R, Boehnke, M, Collins, F S, Erickson, R P, Karolyi, I J, Ploughman, L M, Pericak-Vance, M A, Aylsworth, A S, Roses, A D
Publicado em 1987

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

Por Quack, I., Vonderstrass, B., Stock, M., Aylsworth, A. S., Becker, A., Brueton, L., Lee, P. J., Majewski, F., Mulliken, J. B., Suri, M., Zenker, M., Mundlos, S., Otto, F.
Publicado em 1999

Linkage studies in peripheral neurofibromatosis.

Por Pericak-Vance, M A, Yamaoka, L H, Vance, J M, Aylsworth, A S, Rossenwasser, G O, Gaskell, P C, Alberts, M J, Hung, W Y, Haynes, C, Roses, A D
Publicado em 1987

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

Por Rampersaud, E, Bassuk, A, Enterline, D, George, T, Siegel, D, Melvin, E, Aben, J, Allen, J, Aylsworth, A, Brei, T, Bodurtha, J, Buran, C, Floyd, L, Hammock, P, Iskandar, B, Ito, J, Kessler, J, Lasarsky, N, Mack, P, Mackey, J, McLone, D, Meeropol, E, Mehltretter, L, Mitchell, L, Oakes, W, Nye, J, Powell, C, Sawin, K, Stevenson, R, Walker, M, West, S, Worley, G, Gilbert, J, Speer, M
Publicado em 2005

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

Por Zak, J, Vives, V, Szumska, D, Vernet, A, Schneider, J E, Miller, P, Slee, E A, Joss, S, Lacassie, Y, Chen, E, Escobar, L F, Tucker, M, Aylsworth, A S, Dubbs, H A, Collins, A T, Andrieux, J, Dieux-Coeslier, A, Haberlandt, E, Kotzot, D, Scott, D A, Parker, M J, Zakaria, Z, Choy, Y S, Wieczorek, D, Innes, A M, Jun, K R, Zinner, S, Prin, F, Lygate, C A, Pretorius, P, Rosenfeld, J A, Mohun, T J, Lu, X
Publicado no Cell Death Differ (2016)