Célia Priszkulnik Koiffmann

Author

Also Known As

C P Koiffmann, C. Koiffmann, C. P. Koiffmann, C.P. Koiffmann, Celia Koiffmann, Celia P Koiffmann, Celia P. Koiffmann, Celia Priszkulnik Koiffmann, Clia Koiffmann, CÉLIA PRISZKULNIK KOIFFMANN

126

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

Universidade de São Paulo Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo Universidade Federal de São Paulo Institute of Human Genetics Hospital São Paulo

About

Célia Priszkulnik Koiffmann is an author at Universidade de São Paulo specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	20	1.2K
2	Natural Sciences	3	3	65
3	Health Sciences	1	1	16
4	Public Health	1	1	31
5	Social Sciences	1	1	16

Célia Priszkulnik Koiffmann

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability Charles Shaw‐Smith, Alan Pittman, Lionel Willatt, Nature Genetics ChromatinDevelopmental BiologyCytogeneticsGenetic DisorderGenetics	2006	371
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Fernanda Sarquis Jehee, Cytogenetic and Genome Research	2006	125
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems Carla S. D’Angelo, José Albino da Paz, Chong Ae Kim, European Journal of Medical Genetics PsychiatryGenetic DisorderMedicineBehavioral ProblemsNeuropsychiatry	2006	122
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects Monica Castro Varela, Fernando Kok, Paulo Alberto Otto, European Journal of Human Genetics PsychiatryAngelman SyndromeUpd SubjectsNeurogeneticsMedicine	2004	114
Epilepsy in Patients With Angelman Syndrome Caused by Deletion of the Chromosome 15q11-13 Kette D. Valente, Célia Priszkulnik Koiffmann, Cíntia Fridman, Archives of Neurology	2006	105
A new case of interstitial 6q16.2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity Monica Castro Varela, Alex Y. Simoes-Sato, Chong Ae Kim, European Journal of Medical Genetics New CaseGenetic DisorderGeneticsSim1 Gene DeletionPathology	2006	85
Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations Kette D. Valente, Joaquina Queiroz Andrade, R Grossmann, Epilepsia	2003	66
GAPO syndrome (McKusick 23074)—A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older Anita Wajntal, Célia Priszkulnik Koiffmann, Berenice B. Mendonça, American Journal of Medical Genetics Gapo DysplasiaOcular DiseaseConstant ManifestationsOphthalmologyAffected Sibs	1990	66
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity Carla S. D’Angelo, Mauren F. Moller dos Santos, Luis Garcia Alonso, Molecular Syndromology	2015	57
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the <i>P</i> gene Cíntia Fridman, Naoko Hosomi, Monica Castro Varela, American Journal of Medical Genetics Part A	2003	50

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