Nervous System Malformations

"Nervous System Malformations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.

Descriptor ID

D009421

MeSH Number(s)

C10.500

C16.131.666

Concept/Terms

Nervous System Malformations

Cranioschisis

Below are MeSH descriptors whose meaning is more general than "Nervous System Malformations".

Diseases [C]
Nervous System Diseases [C10]
Nervous System Malformations [C10.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Nervous System Malformations [C16.131.666]

Below are MeSH descriptors whose meaning is related to "Nervous System Malformations".

Below are MeSH descriptors whose meaning is more specific than "Nervous System Malformations".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Nervous System Malformations" by people in Harvard Catalyst Profiles by year, and whether "Nervous System Malformations" was a major or minor topic of these publication.

Bar chart showing 134 publications over 26 distinct years, with a maximum of 12 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1996	0	2	2
1997	0	1	1
1998	4	0	4
2000	2	1	3
2001	4	3	7
2002	7	1	8
2003	3	3	6
2004	2	3	5
2005	3	3	6
2006	6	2	8
2007	4	1	5
2008	2	1	3
2010	1	1	2
2011	4	0	4
2012	2	0	2
2014	3	0	3
2015	1	2	3
2016	2	3	5
2017	4	3	7
2018	2	3	5
2019	1	3	4
2020	8	4	12
2021	7	1	8
2022	10	1	11
2023	9	0	9
2024	1	0	1

Below are the most recent publications written about "Nervous System Malformations" by people in Profiles.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456.

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. Am J Hum Genet. 2024 Jan 04; 111(1):200-210.

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Prenatal diagnosis and postnatal outcome of closed spinal dysraphism. Prenat Diagn. 2024 Apr; 44(4):499-510.

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Disparities Between Prenatal Ultrasound and Autopsy Findings in Pregnancies Resulting in Fetal Loss. J Ultrasound Med. 2024 Mar; 43(3):455-465.

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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. Am J Hum Genet. 2023 Dec 07; 110(12):2112-2119.

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Syndrome of anterior neural stalk, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia related to persistent ventral neurenteric canal: report of two cases. Childs Nerv Syst. 2023 Dec; 39(12):3341-3348.

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288.

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A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Clin Genet. 2023 07; 104(1):73-80.

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Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia. Cerebellum. 2024 Apr; 23(2):418-430.

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Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Clin Genet. 2023 05; 103(5):566-573.

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