Brain Abnormalities in Patients with Germline Variants in

Brain / diagnostic imaging Brain Neoplasms / diagnostic imaging Child Germ Cells / pathology Histones / genetics Humans Male Malformations of Cortical Development / pathology Neurodevelopmental Disorders / pathology Retrospective Studies

Journal

AJNR. American journal of neuroradiology
ISSN: 1936-959X
Titre abrégé: AJNR Am J Neuroradiol
Pays: United States
ID NLM: 8003708

Informations de publication

Date de publication:
07 2022
Historique:
received: 23 02 2022
accepted: 18 04 2022
pubmed: 1 7 2022
medline: 12 7 2022
entrez: 30 6 2022
Statut: ppublish

Résumé

Pathogenic somatic variants affecting the genes In this retrospective study, we included individuals with proved Eighteen individuals (10 males, 56%) with Imaging phenotypes in germline

Sections du résumé

BACKGROUND AND PURPOSE
Pathogenic somatic variants affecting the genes
MATERIALS AND METHODS
In this retrospective study, we included individuals with proved
RESULTS
Eighteen individuals (10 males, 56%) with
CONCLUSIONS
Imaging phenotypes in germline

Identifiants

DOI: 10.3174/ajnr.A7555 PMID: 35772801 PMC: PMC9262070
pubmed: 35772801
pii: ajnr.A7555
doi: 10.3174/ajnr.A7555
pmc: PMC9262070
doi:

Substances chimiques

H3-3A protein, human 0
Histones 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1048-1053

Informations de copyright

© 2022 by American Journal of Neuroradiology.

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Auteurs

C A P F Alves (CAPF)

From the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu.
ORCID: 0000-0001-5877-9086

O Sherbini (O)

Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

F D'Arco (F)

Departments of Radiology (F.D.).

D Steel (D)

Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.
Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.
ORCID: 0000-0003-0942-7943

M A Kurian (MA)

Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.
Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.
ORCID: 0000-0003-3529-5075

F C Radio (FC)

Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

G B Ferrero (GB)

Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.
ORCID: 0000-0002-3793-5788

D Carli (D)

Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.
ORCID: 0000-0001-5690-6504

M Tartaglia (M)

Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
ORCID: 0000-0001-7736-9672

T B Balci (TB)

MedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.
Department of Paediatrics (T.B.B.),Western University, London, Ontario, Canada.
ORCID: 0000-0002-5409-8387

N N Powell-Hamilton (NN)

Division of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware.

S A Schrier Vergano (SA)

Division of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.
Department of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia.

H Reutter (H)

Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany.

J Hoefele (J)

Institute of Human Genetics (J.H., R.G.).
ORCID: 0000-0002-7917-7129

R Günthner (R)

Institute of Human Genetics (J.H., R.G.).
Department of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.

E R Roeder (ER)

Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.
ORCID: 0000-0002-8439-657X

R O Littlejohn (RO)

Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.
ORCID: 0000-0001-8000-0446

D Lessel (D)

Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
ORCID: 0000-0003-4496-244X

S Lüttgen (S)

Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
ORCID: 0000-0002-9902-7697

C Kentros (C)

Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.
ORCID: 0000-0001-6316-6997

K Anyane-Yeboa (K)

Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.
ORCID: 0000-0002-4977-9719

C B Catarino (CB)

Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.
ORCID: 0000-0002-6528-7570

S Mercimek-Andrews (S)

Department of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.
Department of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada.
ORCID: 0000-0001-8396-6764

J Denecke (J)

Department of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany.
ORCID: 0000-0002-8228-4013

M J Lyons (MJ)

Greenwood Genetic Center (M.J.L.), Greenwood, South Carolina.
ORCID: 0000-0002-8644-5507

T Klopstock (T)

Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.
German Center for Neurodegenerative Diseases (T.K.), Munich, Germany.
Munich Cluster for Systems Neurology (T.K.), Munich, Germany.
ORCID: 0000-0003-2805-4652

E J Bhoj (EJ)

Department of Radiology, Division of Human Genetics (E.J.B., L.B.).
ORCID: 0000-0001-5748-3507

L Bryant (L)

Department of Radiology, Division of Human Genetics (E.J.B., L.B.).
ORCID: 0000-0001-8483-8940

A Vanderver (A)

Department of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
ORCID: 0000-0002-6290-6751

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Classifications MeSH

questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Maladies du système nerveux › Tumeurs du système nerveux › Tumeurs du système nerveux central › Tumeurs du cerveau › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Cellules › Cellules germinales › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Histone › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Brain Abnormalities in Patients with Germline...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Brain Abnormalities in Patients with Germline...