O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort

O41: Genes associated with disease in fetuses compared to children: Exome sequencing in a large pediatric and prenatal cohort

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Teresa Sparks, Billie Lianoglou, Nuriye Sahin-Holodlugil, Mark Kvale, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Barbara Koenig, Pui-Yan Kwok, Sara Ackerman, Anne Slavotinek, Neil Risch, Mary Norton
التنسيق:	مقال
اللغة:	English
منشور في:	Elsevier 2023-01-01
سلاسل:	Genetics in Medicine Open
الوصول للمادة أونلاين:	http://www.sciencedirect.com/science/article/pii/S2949774423006489

مواد مشابهة

O40: Clinical utility of prenatal exome sequencing in a diverse cohort*
حسب: Mary Norton, وآخرون
منشور في: (2023-01-01)

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
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منشور في: (2024-01-01)

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
حسب: Anne Slavotinek, وآخرون
منشور في: (2023-05-01)

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
حسب: Anne Slavotinek, وآخرون
منشور في: (2023-10-01)

Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency
حسب: Chunge Cao, وآخرون
منشور في: (2023-11-01)

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China
حسب: Yanan Wang, وآخرون
منشور في: (2024-01-01)

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center
حسب: Huili Xue, وآخرون
منشور في: (2024-07-01)

P612: Application of prenatal exome sequencing in fetuses with multiple congenital sonographic abnormalities: A report of three cases
حسب: Minh-Tuan Huynh, وآخرون
منشور في: (2023-01-01)

Prenatal Asphyxia in Growth Retarded Fetuses
حسب: J Gordon Millichap
منشور في: (1987-06-01)

Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly
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Prenatal Diagnosis of Birth Defects by Exome Sequencing
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Evaluation of Fetuses Diagnosed with Megacystis During Prenatal Period
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حسب: Ewa Janicki, وآخرون
منشور في: (2023-02-01)

Prenatal Diagnosis and Pregnancy Outcome Analysis of High-risk Fetuses Suggested by Noninvasive Prenatal Screening
حسب: Yan LUO, Bingyi ZHAO, Yanmei SUN, Haishen TIAN, Yali LI, Yanshang ZHANG, Jian GAO, Zhiqiang CUI
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Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies
حسب: Pengzhen Jin, وآخرون
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Prenatal Predictors and Early Postnatal Outcomes in Fetuses Diagnosed with Tricuspid Atresia
حسب: Ozge Kahramanoglu, وآخرون
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RETRACTED: Priority factors of the nutritional model that influence the prenatal development of the fetus
حسب: Abdullayeva Zamira Sh., وآخرون
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The prognostic role of prenatal MRI volumetric assessment in fetuses with isolated ventriculomegaly
حسب: Naciye Sinem Gezer, وآخرون
منشور في: (2015-06-01)

EARLY PRENATAL DIAGNOSTICS OF INBORN HEART DISEASES OF FETUSES WITH NUCHAL TRANSLUCENCY
حسب: E.A. Shevchenko
منشور في: (2008-10-01)

The correlation of the gender of the fetus with prenatal attachment and perceived social support level
حسب: Cigdem Erdemoglu, وآخرون
منشور في: (2018-09-01)

Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
حسب: Joachim Carsten Will, وآخرون
منشور في: (2023-03-01)

P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing
حسب: Stephanie Rice, وآخرون
منشور في: (2023-01-01)

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience
حسب: Katia Margiotti, وآخرون
منشور في: (2024-04-01)

P786: Utility of whole exome sequencing in desperate prenatal patients
حسب: Zeynep Alpay Savasan, وآخرون
منشور في: (2024-01-01)

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
حسب: Wouter Steyaert, وآخرون
منشور في: (2023-10-01)

P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition
حسب: Amelie Pinard, وآخرون
منشور في: (2023-01-01)

OPPORTUNITIES OF TRANSVAGINAL ECHOCARDIOGRAPHY FOR EARLY PRENATAL DIAGNOSIS OF INBORN HEART DISEASES IN FETUS
حسب: E.A. Shevchenko
منشور في: (2008-12-01)

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
حسب: Javier Sánchez, وآخرون
منشور في: (2012-01-01)

Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency
حسب: Hang Zhou, وآخرون
منشور في: (2023-09-01)

Postnatal Outcomes of Fetuses with Prenatal Diagnosis of 6–9.9 mm Pyelectasis
حسب: Sivan Farladansky-Gershnabel, وآخرون
منشور في: (2023-02-01)

Opening Pandora's box? Ethical issues in prenatal whole genome and exome sequencing
حسب: Horn, R, وآخرون
منشور في: (2017)

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
حسب: Xiaomei Shi, وآخرون
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Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
حسب: Zhu Xintong, وآخرون
منشور في: (2023-08-01)

Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography
حسب: Ingrid Schwach Werneck Britto, وآخرون
منشور في: (2014-01-01)

Prenatal Ultrasound Diagnostics of Autosomal Recessive Polycystic Kidney Disease in Fetus: Clinical Case
حسب: Nodira M. Normuradova, وآخرون
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Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication
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Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22
حسب: Shana S. Dalal, وآخرون
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Some Molecular Abnormality Indicators of Prenatal Cell Free Fetus DNA CFF-DNA
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منشور في: (2022-12-01)

Prenatal ultrasound diagnosis and prognosis of fetus with isolated filar cyst: a retrospective analysis
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