Jaakko Ignatius - Concepedia

Author

Jaakko Ignatius

Also Known As

Ignatius, J, Ignatius, Jaakko, J Ignatius, J. IGNATIUS, J. Ignatius, JAAKKO IGNATIUS, Jaakko Ignatius, Jaana Åman, M.A. Zullo

127

Publications

5.8K

Citations

H-Index

123

Concepts

All Affiliations

University of Helsinki Helsinki University Hospital Oulu University Hospital Väestöliitto University of Oulu

About

Jaakko Ignatius is an author at University of Helsinki specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	27	36	4.4K
2	Public Health	4	4	224
3	Health Sciences	3	3	101
4	Natural Sciences	3	3	306
5	Engineering	1	1	13

Jaakko Ignatius

Publications

5.2K

Citations

H-Index

Page 1

	Year	Citations
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. A K Ryan, Judith A. Goodship, David I. Wilson, Journal of Medical Genetics CytogeneticsGeneticsGenetic EpidemiologyEuropean Collaborative StudyPathology	1997	1.2K
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, The American Journal of Human Genetics Severe Mental RetardationMendelian DisorderPsychiatryCorticobasal DegenerationNeuroanatomy	2005	623
Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype Louise J. Campbell, Allyson C. Potter, Jaakko Ignatius, The American Journal of Human Genetics Genomic VariationGenetic AnalysisGenetic DiseasesGenetic DisorderGenetics	1997	318
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy Nanda R. Rodrigues, Nicholas Owen, Kevin Talbot, Human Molecular Genetics	1995	225
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease Heidi O. Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Nature Genetics Molecular NeuroscienceDevelopmental BiologyMendelian DisorderGenetic DisorderDevelopmental Genetics	2008	196
Update on Kleefstra Syndrome Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, Molecular Syndromology Down SyndromeChromatinDevelopmental BiologyMendelian DisorderEndocrine Disease	2011	178
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development Richard S. Smith, Connor Kenny, Vijay Ganesh, Neuron Sodium Channel Scn3aMolecular NeuroscienceOral Motor DevelopmentNeurophysiologyNeuroanatomy	2018	160
Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment Marilisa M. Guerreiro, E. Andermann, Renzo Guerrini, Annals of Neurology Familial Perisylvian PolymicrogyriaCorticobasal DegenerationGeneticsMendelian DisorderX-linked Inheritance	2000	159
Nonrecurrent <i>MECP2</i> duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair Marijke Bauters, Hilde Van Esch, Michael J. Friez, Genome Research Dna DamageGeneticsGenomic MechanismMolecular BiologyPathology	2008	128
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly Stephen W. Scherer, Parvoneh Poorka, Hillary F. Massa, Human Molecular Genetics Human Developmental MalformationCytogeneticsGeneticsMolecular GeneticsGenomics	1994	125

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