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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 2
1984 1
1985 1
1986 1
1987 2
1990 2
1991 2
1992 1
1994 3
1995 1
1996 2
1997 3
1998 2
1999 2
2000 7
2001 7
2002 8
2003 10
2004 9
2005 28
2006 16
2007 16
2008 15
2009 20
2010 19
2011 29
2012 24
2013 33
2014 31
2015 18
2016 14
2017 8
2018 13
2019 2
2020 0
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310 results
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Page 1
Malformations of cortical development: clinical features and genetic causes.
Guerrini R and Dobyns WB. Lancet Neurol 2014 - Review. PMID 24932993 Free PMC article.
Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. ...
Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe …
Developmental Dysfunction of VIP Interneurons Impairs Cortical Circuits.
Batista-Brito R, et al. Neuron 2017. PMID 28817803 Free PMC article.
GABAergic interneurons play important roles in cortical circuit development. However, there are multiple populations of interneurons and their respective developmental contributions remain poorly explored. ...These findings provide a new perspective on the role of GABAergic interneuron diversity in cortical development. VIDEO ABSTRACT....
GABAergic interneurons play important roles in cortical circuit development. However, there are multiple populations of interneurons …
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature
Balasubramanian M, et al. J Med Genet 2017 - Review. PMID 28100473 Free article.
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. ...OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. ...
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations i …
Rhombencephalosynapsis
Passi GR and Bhatnagar S. Pediatr Neurol 2015. PMID 25816977
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD, et al. Nat Genet 2016. PMID 27213289 Free article.
Knockdown of nansa in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescued the skeletal phenotype. Thus, NANS-mediated synthesis of sialic acid is required for early brain development and skeletal growth. Normal sialylation of plasma proteins was observed in spite of NANS deficiency. ...
Knockdown of nansa in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescue …
Muscle tone assessments for children aged 0 to 12 years: a systematic review
Goo M, et al. Dev Med Child Neurol 2018 - Review. PMID 29405265 Free article.
All assessments were broad developmental assessments that included muscle tone items or subscales. Most assessments (16/21) were designed for young children (<2y). ...For children over 2 years, the Neurological Sensory Motor Developmental Assessment (NSMDA) assesses resting and active tone but has limited validity. ...
All assessments were broad developmental assessments that included muscle tone items or subscales. Most assessments (16/21) were desi …
Rhombencephalosynapsis
Barth PG. Handb Clin Neurol 2008. PMID 18809018
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