Literature DB >> 16981221

Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings.

Rachael L McEwing1, Roume Joelle, Marc Mohlo, Jean-Pierre Bernard, Yvette Hillion, Yves Ville.   

Abstract

Prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a large oropharyngeal tumor, and cardiac and cranial abnormalities consistent with neurofibromatosis type 1 (NF1) in a third-trimester fetus, which were confirmed on postmortem examination. Sonographic features of NF1 are generally nonspecific; MR examination provided significant additional information, facilitating prenatal diagnosis. 2006 John Wiley & Sons, Ltd.

Entities:  

Mesh：

Year:  2006        PMID： 16981221     DOI： 10.1002/pd.1560

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  5 in total

1.  Extensive plexiform neurofibroma in a premature neonate.

Authors:  Aditya Joshi; Moira Lancelot; Nandita R Bhattacharjee; Sruthi Polavarapu; Efstathios Beltaos; Babatunde Sobowale
Journal:  Clin Med Res       Date:  2014-11-07

2.  Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.

Authors:  Ying Yang; Sheng Zhao; Guoqiang Sun; Fang Chen; Tongda Zhang; Jieping Song; Wenzhong Yang; Lin Wang; Nianji Zhan; Xiaohong Yang; Xia Zhu; Bin Rao; Zhenzhen Yin; Jing Zhou; Haisheng Yan; Yushan Huang; Jingyu Ye; Hui Huang; Chen Cheng; Shida Zhu; Jian Guo; Xun Xu; Xinlin Chen
Journal:  NPJ Genom Med       Date:  2022-05-13       Impact factor: 6.083

3.  Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Authors:  Leora Witkowski; Mitchell W Dillon; Elissa Murphy; Matthew S Lebo; Heather Mason-Suares
Journal:  Mol Genet Genomic Med       Date:  2020-02-27       Impact factor: 2.183

4.  Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Douglas R Stewart; Bruce R Korf; Katherine L Nathanson; David A Stevenson; Kaleb Yohay
Journal:  Genet Med       Date:  2018-04-26       Impact factor: 8.822

Review 5.  Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Heather B Radtke; Courtney D Sebold; Caroline Allison; Joy Larsen Haidle; Gretchen Schneider
Journal:  J Genet Couns       Date:  2007-07-17       Impact factor: 2.537
  5 in total

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