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Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
Vermeulen, Carlo; Geeven, Geert; de Wit, Elzo; Verstegen, Marjon J A M; Jansen, Rumo P M; van Kranenburg, Melissa; de Bruijn, Ewart; Pulit, Sara L; Kruisselbrink, Evelien; Shahsavari, Zahra; Omrani, Davood; Zeinali, Fatemeh; Najmabadi, Hossein; Katsila, Theodora; Vrettou, Christina; Patrinos, George P; Traeger-Synodinos, Joanne; Splinter, Erik; Beekman, Jeffrey M; Kheradmand Kia, Sima; Te Meerman, Gerard J; Ploos van Amstel, Hans Kristian; de Laat, Wouter.
Afiliação
  • Vermeulen C; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands.
  • Geeven G; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands.
  • de Wit E; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands.
  • Verstegen MJAM; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands.
  • Jansen RPM; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
  • van Kranenburg M; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands.
  • de Bruijn E; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
  • Pulit SL; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
  • Kruisselbrink E; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Shahsavari Z; Department of Laboratory Medicine, Faculty of Paramedical Sciences, Shahid Beheshti University of Medical Sciences, Arabi Ave, 19839-63113 Tehran, Iran.
  • Omrani D; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Arabi Ave, 1985717443 Tehran, Iran.
  • Zeinali F; Kariminejad-Najmabadi Pathology & Genetics Center, #2 Medical Building, Sanat Sq., 14667-13713 Sharak Gharb, Tehran, Iran.
  • Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, #2 Medical Building, Sanat Sq., 14667-13713 Sharak Gharb, Tehran, Iran.
  • Katsila T; Department of Pharmacy, University of Patras University Campus, 26504 Patras-Rio, Greece.
  • Vrettou C; Department of Medical Genetics, National and Kapodistrian University of Athens, Choremio Research Laboratory, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
  • Patrinos GP; Department of Pharmacy, University of Patras University Campus, 26504 Patras-Rio, Greece.
  • Traeger-Synodinos J; Department of Medical Genetics, National and Kapodistrian University of Athens, Choremio Research Laboratory, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
  • Splinter E; Cergentis B.V., Yalelaan 62, 3584 CM Utrecht, the Netherlands.
  • Beekman JM; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands.
  • Kheradmand Kia S; Sara Medical Genetics Lab, Shariati St., Niam St., No 53, PO 1948854151 Tehran, Iran.
  • Te Meerman GJ; Department of Genetics, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands.
  • Ploos van Amstel HK; Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.
  • de Laat W; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands. Electronic address: w.delaat@hubrecht.eu.
Am J Hum Genet ; 101(3): 326-339, 2017 Sep 07.
Article em En | MEDLINE | ID: mdl-28844486
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Esteroide 21-Hidroxilase / Biomarcadores / Hiperplasia Suprarrenal Congênita / Regulador de Condutância Transmembrana em Fibrose Cística / Polimorfismo de Nucleotídeo Único / Fibrose Cística Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Esteroide 21-Hidroxilase / Biomarcadores / Hiperplasia Suprarrenal Congênita / Regulador de Condutância Transmembrana em Fibrose Cística / Polimorfismo de Nucleotídeo Único / Fibrose Cística Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda