Pitt-Hopkins Syndrome

Por Peippo, M., Ignatius, J.
Publicado em 2012

The glove starch peritonitis syndrome.

Por Ignatius, J A, Hartmann, W H
Publicado em 1972

The starch-peritoneal reaction: an experimental study.

Por Hartmann, W H, Ignatius, J A
Publicado em 1972

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

Por Ignatius, J, Knuutila, S, Scherer, S W, Trask, B, Kere, J
Publicado em 1996

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.

Por Campbell, L, Potter, A, Ignatius, J, Dubowitz, V, Davies, K
Publicado em 1997

Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.

Por Salo, P, Ignatius, J, Simola, K O, Tahvanainen, E, Kääriäinen, H
Publicado em 1995

Electromagnetic function of polymicrogyric cortex in congenital bilateral perisylvian syndrome

Por Paetau, R, Saraneva, J, Salonen, O, Valanne, L, Ignatius, J, Salenius, S
Publicado em 2004

Gene deletions in spinal muscular atrophy.

Por Rodrigues, N R, Owen, N, Talbot, K, Patel, S, Muntoni, F, Ignatius, J, Dubowitz, V, Davies, K E
Publicado em 1996

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

Por Mäkelä-Bengs, P, Järvinen, N, Vuopala, K, Suomalainen, A, Ignatius, J, Sipilä, M, Herva, R, Palotie, A, Peltonen, L
Publicado em 1998

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

Por Laiho, E, Ignatius, J, Mikkola, H, Yee, V C, Teller, D C, Niemi, K M, Saarialho-Kere, U, Kere, J, Palotie, A
Publicado em 1997

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Por Daniels, R J, Campbell, L, Rodrigues, N R, Francis, M J, Morrison, K E, McLean, M, MacKenzie, A, Ignatius, J, Dubowitz, V, Davies, K E
Publicado em 1995

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Por Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J
Publicado em 1997

Update on Kleefstra Syndrome

Por Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.
Publicado em 2012