Cindy Colson
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Explore the profile of Cindy Colson including associated specialties, affiliations and a list of published articles.
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25
Citations
174
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Recent Articles
1.
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, et al.
Clin Genet
. 2025 Jan;
PMID: 39837771
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This...
2.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, et al.
Nat Commun
. 2024 Sep;
15(1):7909.
PMID: 39256359
Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively...
3.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, et al.
Prenat Diagn
. 2024 Aug;
44(10):1179-1197.
PMID: 39138116
Objective: Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and...
4.
Plante-Bordeneuve P, Boussion S, Rama M, Brunelle P, Thuillier C, Vanlerberghe C, et al.
Am J Med Genet A
. 2024 Jul;
194(12):e63820.
PMID: 38997820
Recent advances in the understanding of infantile developmental epileptic encephalopathies (IDEE) have revealed the association of biallelic pathogenic variants in UGDH. In this study, we report two novel combinations identified...
5.
Colson C, Ascenzi J, Waibel E, Busch D
J Trauma Nurs
. 2024 Jul;
31(4):203-210.
PMID: 38990876
Background: There is no standardized practice in pediatric pain assessment with burn injuries in the outpatient clinic setting. Objective: This review aims to identify reliable, validated tools to measure pain...
6.
Thuaire A, Delebarre H, Marsili L, Colson C, Vanlerberghe C, Lauwers L, et al.
J Craniofac Surg
. 2024 Feb;
35(2):e209-e213.
PMID: 38299863
Objective: Primary failure of eruption is characterized by a nonsyndromic defect in tooth eruption in the absence of mechanical obstruction. It is correlated to rare heterozygous variants in the parathyroid...
7.
Schmetz A, Ludecke H, Surowy H, Sivalingam S, Bruel A, Caumes R, et al.
Hum Genet
. 2023 Dec;
143(1):71-84.
PMID: 38117302
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric...
8.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, et al.
Am J Med Genet A
. 2023 Nov;
194(4):e63476.
PMID: 37974505
Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of...
9.
Bourgois A, Bizaoui V, Colson C, Vincent-Devulder A, Molin A, Gerard M, et al.
Am J Med Genet A
. 2023 Oct;
194(3):e63457.
PMID: 37881147
Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital anomalies and dysmorphic features....
10.
Mau-Them F, Delanne J, Denomme-Pichon A, Safraou H, Bruel A, Vitobello A, et al.
Front Genet
. 2023 Apr;
14:1099995.
PMID: 37035737
Prenatal ultrasound (US) anomalies are detected in around 5%-10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We...