External hydrocephalus as a prenatal feature of noonan syndrome-Reference-Cited by-同舟云学术

External hydrocephalus as a prenatal feature of noonan syndrome

Published:2021-06-02 Issue:6 Volume:85 Page:249-252
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Mastromoro Gioia¹^ORCID,De Luca Alessandro²,Marchionni Enrica¹,Spagnuolo Antonella³,Ventriglia Flavia⁴,Manganaro Lucia⁵,Pizzuti Antonio¹²

Affiliation:

1. Department of Experimental Medicine, Sapienza University of Rome Policlinico Umberto I Hospital Rome Italy

2. Ospedale Casa Sollievo della Sofferenza Mendel Institute San Giovanni Rotondo Italy

3. Centro Sant'Anna ASL Roma1 Rome Italy

4. Department of Pediatrics, Sapienza University of Rome Policlinico Umberto I Hospital Rome Italy

5. Department of Radiological Science, Sapienza University of Rome Policlinico Umberto I Hospital Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12436

Reference17 articles.

1. CSF dynamics in hydrocephalus—With special attention to external hydrocephalus

2. Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

3. The Protein Tyrosine Phosphatase Shp2 Is Required for the Generation of Oligodendrocyte Progenitor Cells and Myelination in the Mouse Telencephalon

4. Progressive hydrocephalus in Noonan syndrome

5. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis;Gripp K. W.;Am J Medl Genet Part A,2013

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1. The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus;Egyptian Journal of Medical Human Genetics;2024-03-26

2. Noonan syndrome: Neuroimaging findings and morphometric analysis of the cranium base and posterior fossa in children;Journal of Neuroimaging;2022-12-08

3. Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome;European Journal of Medical Genetics;2022-11

4. Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus;Frontiers in Genetics;2022-01-03