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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
Papoulidis, Ioannis; Eleftheriades, Makarios; Manolakos, Emmanouil; Petersen, Michael B; Liappi, Simoni Marina; Konstantinidou, Anastasia; Papamichail, Maria; Papadopoulos, Vassilios; Garas, Antonios; Sotiriou, Sotirios; Papastefanou, Ioannis; Daskalakis, Georgios; Ristic, Aleksandar.
Affiliation
  • Papoulidis I; Access to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
  • Eleftheriades M; Second Department of Obstetrics and Gynaecology, Aretaieion Hospital, Medical School, National and Kapodistrian University of Athens, 112527 Athens, Greece.
  • Manolakos E; Access to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
  • Petersen MB; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, 09124 Cagliari, Italy.
  • Liappi SM; Access to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
  • Konstantinidou A; Access to Genome P.C., Clinical Laboratory Genetics, Lampsakou 11, 11528 Thessaloniki, Greece.
  • Papamichail M; 1st Department of Pathology, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Papadopoulos V; Postgraduate Programme "Maternal Fetal Medicine", Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Garas A; Department of Obstetrics & Gynecology, University of Patra, 26500 Patras, Greece.
  • Sotiriou S; Department of Gynecology, Larissa Medical School, University of Thessaly, 38221 Larissa, Greece.
  • Papastefanou I; Department of Clinical Embryology, Larissa Medical School, University of Thessaly, 41334 Larissa, Greece.
  • Daskalakis G; Fetal Medicine Clinic, Monis Petraki 4, Kolonaki, 11521 Athens, Greece.
  • Ristic A; First Department of Obstetrics and Gynaecology, "Alexandra" Maternity Hospital, Medical School, National and Kapodistrian University of Athens, 15772 Athens, Greece.
Children (Basel) ; 9(12)2022 Nov 30.
Article de En | MEDLINE | ID: mdl-36553323

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Langue: En Journal: Children (Basel) Année: 2022 Type de document: Article Pays d'affiliation: Grèce Pays de publication: Suisse

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Langue: En Journal: Children (Basel) Année: 2022 Type de document: Article Pays d'affiliation: Grèce Pays de publication: Suisse