Author details

Full Name

Marzia Pollazzon

Affiliation

Azienda USL-IRCCS di Reggio Emilia

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36996813	Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.	Am J Hum Genet	2023
37628577	Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> Genes.	Genes (Basel)	2023
37521304	Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.	Front Neurol	2023
37747279	Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the <i>SOX2</i> Gene: Ultrasound, Pathological, and Cytogenetic Findings.	Fetal Pediatr Pathol	2023
38058756	Expanding Phenotype of <i>SYT1</i>-Related Neurodevelopmental Disorder: Case Report and Literature Review.	Mol Syndromol	2023
34562059	Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".	Am J Med Genet A	2022
35697328	Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.	Exp Eye Res	2022
35456440	MCPH1: A Novel Case Report and a Review of the Literature.	Genes (Basel)	2022
35872606	Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.	Am J Med Genet C Semin Med Genet	2022
35205306	Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.	Genes (Basel)	2022
32816121	Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.	Neurogenetics	2021
35052370	Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.	Genes (Basel)	2021
34440382	Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum.	Genes (Basel)	2021
34206215	Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.	Genes (Basel)	2021
33043602	Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.	Am J Med Genet A	2020
31656314	Alazami syndrome: the first case of papillary thyroid carcinoma.	J Hum Genet	2020
31614862	Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>.	Genes (Basel)	2019
29300384	Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.	Genet Med	2018
29642246	A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.	Neuropediatrics	2018
29523172	Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.	Ital J Pediatr	2018
29494358	Complex cranio-vertebral malformation: disruption sequence or iniencephaly?	Clin Dysmorphol	2018
29681106	Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.	Am J Med Genet A	2018
27831545	Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.	Genet Med	2017
27277385	RIN2 syndrome: Expanding the clinical phenotype.	Am J Med Genet A	2016
27920637	Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.	Mol Syndromol	2016
27798098	Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.	Hum Mol Genet	2016
27562837	Natural history and life-threatening complications in Myhre syndrome and review of the literature.	Eur J Pediatr	2016
25846317	Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.	Am J Med Genet A	2015
22522176	Xq28 duplications including MECP2 in five females: Expanding the phenotype toÂ severe mental retardation.	Eur J Med Genet	2012
21593744	Investigation of modifier genes within copy number variations in Rett syndrome.	J Hum Genet	2011
21910234	Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.	Am J Med Genet A	2011
19362436	Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.	Brain Dev	2010
20578134	Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.	Am J Med Genet A	2010
20219702	3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.	Eur J Med Genet	2010
19911250	The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.	J Neurol	2010
19427150	Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family.	Brain Dev	2010
19324102	A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.	Eur J Med Genet	2009
19764032	Expanding CEP290 mutational spectrum in ciliopathies.	Am J Med Genet A	2009
18657637	Private inherited microdeletion/microduplications: implications in clinical practice.	Eur J Med Genet	2008
18571142	FOXG1 is responsible for the congenital variant of Rett syndrome.	Am J Hum Genet	2008

1 - 40 of 40

Nadja Ehmke

Berlin Institute of Health at Charite - Universitatsmedizin Berlin

Career Start Year 2014

Number of shared co-authors 9

Luisa Mackenroth

Institut fur Klinische Genetik, Technische Universitat Dresden

Career Start Year 2012

Number of shared co-authors 2

Mahmoud Y Issa

Human Genetics and Genome Research Institute, National Research Centre

Career Start Year 2011

Number of shared co-authors 9

Harry Pachajoa

Universidad Icesi

Career Start Year 2009

Number of shared co-authors 10

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 14

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 8

Charu Deshpande

Guy's Hospital

Career Start Year 2006

Number of shared co-authors 6

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 9

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 13

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 10

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Career Start Year 2002

Number of shared co-authors 17

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 25

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 4

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 3

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 17

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 12

Luitgard Graul-Neumann

Charite Universitaetsmedizin Berlin

Career Start Year 1996

Number of shared co-authors 13

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 14

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 11

Bert B A de Vries

Radboud University Medical Center

Career Start Year 1992

Number of shared co-authors 26

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 10

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 6

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 13

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 7

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 13

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 23

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 9

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 17

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 16

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 17

row(s) 1 - 30 of 30

Alessandra Renieri

University of Siena

Co-authored papers 12

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Co-authored papers 11

Marco Tartaglia

Co-authored papers 5

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Co-authored papers 4

Maria Roberta Cilio

Co-authored papers 2

Angelo Selicorni

Co-authored papers 2

Leslie Matalonga

The Barcelona Institute of Science and Technology

Co-authored papers 2

William B Dobyns

University of Minnesota

Co-authored papers 2

Ferdinand Dhombres

Armand Trousseau Hospital, Sorbonne University

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Hanns Lochm??ller

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Sabrina Toro

University of Colorado Anschutz Medical Campus

Co-authored papers 1

Christopher A Walsh

Broad Institute of MIT and Harvard