Heterozygous NOTCH1 deletion associated with variable congenital heart defects.

Saved in:
Bibliographic Details
Title: Heterozygous NOTCH1 deletion associated with variable congenital heart defects.
Authors: Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Chung BHY; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Reid DM; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Teitelbaum R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Martin N; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Nield LE; Division of Cardiology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Thompson M; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Department of Fetal Pathology, Kaiser Permanente Oakland Medical Center, Oakland, California, USA., Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Source: Clinical genetics [Clin Genet] 2021 Jun; Vol. 99 (6), pp. 836-841.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 33630301
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Heterozygous NOTCH1 deletion associated with variable congenital heart defects.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Roifman+M%22">Roifman M</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Chung+BHY%22">Chung BHY</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Reid+DM%22">Reid DM</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Teitelbaum+R%22">Teitelbaum R</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Martin+N%22">Martin N</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Nield+LE%22">Nield LE</searchLink>; Division of Cardiology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Thompson+M%22">Thompson M</searchLink>; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Department of Fetal Pathology, Kaiser Permanente Oakland Medical Center, Oakland, California, USA.<br /><searchLink fieldCode="AU" term="%22Shannon+P%22">Shannon P</searchLink>; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Chitayat+D%22">Chitayat D</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2021 Jun; Vol. 99 (6), pp. 836-841.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33630301
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.13948
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 836
    Titles:
      – TitleFull: Heterozygous NOTCH1 deletion associated with variable congenital heart defects.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Roifman M
      – PersonEntity:
          Name:
            NameFull: Chung BHY
      – PersonEntity:
          Name:
            NameFull: Reid DM
      – PersonEntity:
          Name:
            NameFull: Teitelbaum R
      – PersonEntity:
          Name:
            NameFull: Martin N
      – PersonEntity:
          Name:
            NameFull: Nield LE
      – PersonEntity:
          Name:
            NameFull: Thompson M
      – PersonEntity:
          Name:
            NameFull: Shannon P
      – PersonEntity:
          Name:
            NameFull: Chitayat D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2021 Jun
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 99
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1