Jaakko Ignatius

Non-recurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair (2008)

Friez, Michael J, Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M, ...

Recurrent submicroscopic genomic copy number changes are the result of non-allelic homologous recombination (NAHR). Non-recurrent aberrations however, can result from different non-exclusive...

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair (2008)

Bauters, Marijke, Van Esch, Hilde, Friez, Michael J., Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M., ...

Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive...

PAK3 related mental disability: further characterization of the phenotype (2007)

Koivisto, Anne M, Särkämö, Teppo, Sipponen, Marjatta, Von Koskull, Harriet, Ylisaukko-oja, Tero, ...

We report clinical, neuropsychological and molecular findings in affected males and carrier females in the fourth reported family with mental retardation caused by mutation in the PAK3 gene...

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males (2005)

Ignatius, Jaakko, Raynaud, Martine, ...

Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative...

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly (1994)

W.Scherer, Stephen, Poorka], Parvoneh, Massa, Hillary, Soder, Sylvia, Allen, Todd, Nunes, Mark, ...

Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been...

Childhood spinal muscular atrophy in Finland : a clinical, genetic and nosological study / (1992)

Ignatius, Jaakko.

Tiivistelmä.

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2

Virolainen, Elina, Wessman, Maija, Hovatta, Iiris, Niemi, Kirsti-Maria, Ignatius, Jaakko, Kere, Juha, ...

Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with...

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Van Esch, Hilde, Bauters, Marijke, Ignatius, Jaakko, Jansen, Mieke, Raynaud, Martine, Hollanders, Karen, ...

Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative...

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2

Virolainen, Elina, Wessman, Maija, Hovatta, Iiris, Niemi, Kirsti-Maria, Ignatius, Jaakko, Kere, Juha, ...

Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with...

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Bauters, Marijke, Van Esch, Hilde, Friez, Michael J., Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M., ...

Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive...