View in EDS HTML Full Text PDF Full Text

Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.

Saved in:
Bibliographic Details
Title: Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Authors: El-Dessouky SH; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Sharaf-Eldin WE; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aboulghar MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ebrashy A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Senousy SM; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elarab AE; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Gaafar HM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ateya MI; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdelfattah AN; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Saad AK; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zolfokar DS; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Fouad MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdella RM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Sharaf MF; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Matsa LS; Genomic Precision Diagnostic Department, Igenomix, Paterna, Spain., Aref H; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Soliman SH; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Al-Bellehy MA; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdel-Aziz NN; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., ElHodiby ME; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdou HK; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Source: Prenatal diagnosis [Prenat Diagn] 2025 Feb; Vol. 45 (2), pp. 204-217. Date of Electronic Publication: 2024 Dec 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39638571
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22El-Dessouky+SH%22">El-Dessouky SH</searchLink>; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Sharaf-Eldin+WE%22">Sharaf-Eldin WE</searchLink>; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Aboulghar+MM%22">Aboulghar MM</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ebrashy+A%22">Ebrashy A</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Senousy+SM%22">Senousy SM</searchLink>; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elarab+AE%22">Elarab AE</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Gaafar+HM%22">Gaafar HM</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ateya+MI%22">Ateya MI</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdelfattah+AN%22">Abdelfattah AN</searchLink>; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Saad+AK%22">Saad AK</searchLink>; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zolfokar+DS%22">Zolfokar DS</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Fouad+MM%22">Fouad MM</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdella+RM%22">Abdella RM</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Sharaf+MF%22">Sharaf MF</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Matsa+LS%22">Matsa LS</searchLink>; Genomic Precision Diagnostic Department, Igenomix, Paterna, Spain.<br /><searchLink fieldCode="AU" term="%22Aref+H%22">Aref H</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Soliman+SH%22">Soliman SH</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Al-Bellehy+MA%22">Al-Bellehy MA</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Aziz+NN%22">Abdel-Aziz NN</searchLink>; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22ElHodiby+ME%22">ElHodiby ME</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdou+HK%22">Abdou HK</searchLink>; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Eid+MM%22">Eid MM</searchLink>; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdalla+EM%22">Abdalla EM</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%228106540%22">Prenatal diagnosis</searchLink> [Prenat Diagn] 2025 Feb; Vol. 45 (2), pp. 204-217. <i>Date of Electronic Publication: </i>2024 Dec 05.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>8106540 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-0223 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201973851%22">01973851 </searchLink><i>NLM ISO Abbreviation: </i>Prenat Diagn <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39638571
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/pd.6697
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 204
    Titles:
      – TitleFull: Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: El-Dessouky SH
      – PersonEntity:
          Name:
            NameFull: Sharaf-Eldin WE
      – PersonEntity:
          Name:
            NameFull: Aboulghar MM
      – PersonEntity:
          Name:
            NameFull: Ebrashy A
      – PersonEntity:
          Name:
            NameFull: Senousy SM
      – PersonEntity:
          Name:
            NameFull: Elarab AE
      – PersonEntity:
          Name:
            NameFull: Gaafar HM
      – PersonEntity:
          Name:
            NameFull: Ateya MI
      – PersonEntity:
          Name:
            NameFull: Abdelfattah AN
      – PersonEntity:
          Name:
            NameFull: Saad AK
      – PersonEntity:
          Name:
            NameFull: Zolfokar DS
      – PersonEntity:
          Name:
            NameFull: Fouad MM
      – PersonEntity:
          Name:
            NameFull: Abdella RM
      – PersonEntity:
          Name:
            NameFull: Sharaf MF
      – PersonEntity:
          Name:
            NameFull: Issa MY
      – PersonEntity:
          Name:
            NameFull: Matsa LS
      – PersonEntity:
          Name:
            NameFull: Aref H
      – PersonEntity:
          Name:
            NameFull: Soliman SH
      – PersonEntity:
          Name:
            NameFull: Al-Bellehy MA
      – PersonEntity:
          Name:
            NameFull: Abdel-Aziz NN
      – PersonEntity:
          Name:
            NameFull: ElHodiby ME
      – PersonEntity:
          Name:
            NameFull: Abdou HK
      – PersonEntity:
          Name:
            NameFull: Eid MM
      – PersonEntity:
          Name:
            NameFull: Zaki MS
      – PersonEntity:
          Name:
            NameFull: Abdalla EM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: 2025 Feb
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1097-0223
          Numbering:
            – Type: volume
              Value: 45
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Prenatal diagnosis
              Type: main
ResultId 1