Marzia Pollazzon - Concepedia

Author

Marzia Pollazzon

Istituti di Ricovero e Cura a Carattere Scientifico ORCID

Also Known As

Amélie Piton, Darina Prchalova, M Pollazzon, M. Pollazzon, M., Pollazzon, Marzia Pollazzon

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico University of Siena Azienda Sanitaria Unità Locale di Reggio Emilia University of Modena and Reggio Emilia Inserm

About

Marzia Pollazzon is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	13	904
2	Public Health	2	2	67
3	Health Sciences	1	1	14
4	Allergy	1	1	20
5	Cell Biology	1	1	20

Marzia Pollazzon

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome Francesca Ariani, Dalila Rondinella, Rosangela Artuso, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2008	430
Private inherited microdeletion/microduplications: Implications in clinical practice Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, European Journal of Medical Genetics Genetic TestingGenetic DisorderGeneticsPrivate Inherited Microdeletion/microduplicationsMedicine	2008	106
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Genetics in Medicine	2018	102
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) Marco Bonomi, Valeria Vezzoli, Csilla Krausz, European Journal of Endocrinology	2017	98
Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria Rosangela Artuso, Maria Antonietta Mencarelli, Roberta Polli, Brain and Development Early-onset Seizure VariantNeurological DisorderRett SyndromeNeurologyNeuropathology	2009	72
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation Marzia Pollazzon, Tiina Suominen, Sini Penttilä, Journal of Neurology Novel Titin MutationMendelian DisorderGenetic DisorderMedicineGenetics	2009	55
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, European Journal of Medical Genetics Mendelian DisorderPsychiatryGenetic DisorderGeneticsPsychiatric Genetics	2012	54
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Genetics in Medicine	2016	54
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, American Journal of Medical Genetics Part C Seminars in Medical Genetics GeneticsReproductive HealthPrenatal PhenotypingEpigeneticsEmbryology	2022	46
Investigation of modifier genes within copy number variations in Rett syndrome Rosangela Artuso, Filomena Tiziana Papa, Elisa Grillo, Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderRett SyndromeGenetics	2011	36

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