Milena Mariani - Concepedia

Author

Milena Mariani

Also Known As

Barbara Parma, Daniela Marchetti, M Mariani, M. G. Mariani, M. Mariani, Martina MARIANI, Martina Mariani, Milena Mariani, Milena mariani, Mirka Mariani

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

University of Milan Azienda Socio Sanitaria Territoriale Lariana Azienda Ospedaliera San Gerardo Istituti di Ricovero e Cura a Carattere Scientifico Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

About

Milena Mariani is an author at University of Milan specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	506
2	Public Health	2	2	83
3	Cell Biology	2	2	163
4	Gastroenterology	1	1	14
5	Genetic Medicine	1	1	185

Milena Mariani

Publications

768

Citations

H-Index

Page 1

	Year	Citations
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, European Journal of Human Genetics Clinical DisordersGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology	2015	185
<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Human Mutation Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation	2015	88
Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Clinical Genetics Identifies MutationsRare DiseasesCdls GenesMendelian DisorderGenetic Disorder	2015	75
[The management of syncope in the hospital: the OESIL Study (Osservatorio Epidemiologico della Sincope nel Lazio)]. Fabrizio Ammirati, Furio Colivicchi, G Minardi, PubMed	1999	66
Expanding the clinical spectrum of the ‘<i><scp>HDAC8</scp></i>‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Clinical Genetics Mendelian DisorderRisk PredictionGenetic DisorderMedicineGenetics	2015	42
<i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond Ilaria Parenti, Mark Mallozzi, Irina Hüning, Clinical Genetics GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification	2021	42
Fetal growth patterns in Beckwith–Wiedemann syndrome Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Clinical Genetics GeneticsFetal Growth PatternsEpigeneticsEmbryologyCdkn1c Mutation	2016	41
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients Milena Mariani, Valentina Decimi, Laura Rachele Bettini, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2016	37
FOXI3 pathogenic variants cause one form of craniofacial microsomia Ke Mao, Christelle Borel, Muhammad Ansar, Nature Communications	2023	31
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood Ana Latorre, Marta Gil‐Salvador, Ilaria Parenti, Scientific Reports	2021	23

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