Danielle Monteil
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Explore the profile of Danielle Monteil including associated specialties, affiliations and a list of published articles.
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10
Citations
100
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Recent Articles
1.
Balow S, Coyan A, Smith N, Russell B, Monteil D, Hopkin R, et al.
Mol Cytogenet
. 2024 Aug;
17(1):19.
PMID: 39183314
Background: Chromoanagenesis is an umbrella term used to describe catastrophic "all at once" cellular events leading to the chaotic reconstruction of chromosomes. It is characterized by numerous rearrangements involving a...
2.
Chettle J, Louie R, Larner O, Best R, Chen K, Morris J, et al.
HGG Adv
. 2024 Aug;
5(4):100345.
PMID: 39182167
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single...
3.
Freeman M, Fakhori N, Monteil D
BMJ Case Rep
. 2024 Jun;
17(6).
PMID: 38871641
We present an infant referred to Developmental Paediatrics for delays, slow growth, hypotonia, esotropia and spasticity. Over the course of 2 months, the infant's exam progressed, demonstrating worsening spasticity and...
4.
Inskeep K, Zarate Y, Monteil D, Spranger J, Doherty D, Stottmann R, et al.
Am J Med Genet A
. 2021 Sep;
188(1):104-115.
PMID: 34523780
Primary ciliopathies are heterogenous disorders resulting from perturbations in primary cilia form and/or function. Primary cilia are cellular organelles which mediate key signaling pathways during development, such as the sonic...
5.
Murali C, Soler-Alfonso C, Loomes K, Shah A, Monteil D, Padilla C, et al.
Mol Genet Metab
. 2021 Jan;
132(2):146-153.
PMID: 33485800
TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver...
6.
Blok L, Vino A, den Hoed J, Underhill H, Monteil D, Li H, et al.
Genet Med
. 2020 Oct;
23(3):534-542.
PMID: 33110267
Purpose: Heterozygous pathogenic variants in various FOXP genes cause specific developmental disorders. The phenotype associated with heterozygous variants in FOXP4 has not been previously described. Methods: We assembled a cohort...
7.
Weiss K, Lazar H, Kurolap A, Martinez A, Paperna T, Cohen L, et al.
Genet Med
. 2019 Dec;
22(3):669.
PMID: 31844176
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
8.
Weiss K, Lazar H, Kurolap A, Martinez A, Paperna T, Cohen L, et al.
Genet Med
. 2019 Aug;
22(2):389-397.
PMID: 31388190
Purpose: Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations,...
9.
Alshaker H, Srivats S, Monteil D, Wang Q, Low C, Pchejetski D
Breast Cancer Res Treat
. 2018 Jul;
172(1):33-43.
PMID: 30043096
Purpose: Sphingosine kinase 1 (SK1) is a protooncogenic enzyme expressed in many human tumours and is associated with chemoresistance and poor prognosis. It is a potent therapy target and its...
10.
Alshaker H, Sauer L, Monteil D, Ottaviani S, Srivats S, Bohler T, et al.
Adv Cancer Res
. 2013 Jan;
117:143-200.
PMID: 23290780
Sphingosine kinase 1 (SK1) is a lipid enzyme with oncogenic properties that converts the proapoptotic lipids ceramide and sphingosine into the antiapoptotic lipid sphingosine-1-phosphate and activates the signal transduction pathways...