Aho Ilgun
Overview
Explore the profile of Aho Ilgun including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
180
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0
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Recent Articles
1.
Postma A, Rapp C, Knoflach K, Volk A, Lemke J, Ackermann M, et al.
Genet Med Open
. 2024 Jan;
1(1):100811.
PMID: 38230350
Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We...
2.
Alaamery M, Albesher N, Alhabshan F, Barnett P, Salim Kabbani M, Chaikhouni F, et al.
J Cardiovasc Dev Dis
. 2023 Nov;
10(11).
PMID: 37998513
Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial...
3.
van Walree E, Dombrowsky G, Jansen I, Mirkov M, Zwart R, Ilgun A, et al.
Genet Med
. 2022 Apr;
24(4):965.
PMID: 35394427
No abstract available.
4.
Skoric-Milosavljevic D, Tadros R, Bosada F, Tessadori F, van Weerd J, Woudstra O, et al.
Circ Res
. 2021 Dec;
130(2):166-180.
PMID: 34886679
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with...
5.
Skoric-Milosavljevic D, Lahrouchi N, Bosada F, Dombrowsky G, Williams S, Lesurf R, et al.
Genet Med
. 2021 Sep;
23(10):2013.
PMID: 34522030
No abstract available.
6.
Skoric-Milosavljevic D, Lahrouchi N, Bosada F, Dombrowsky G, Williams S, Lesurf R, et al.
Genet Med
. 2021 Jun;
23(10):1952-1960.
PMID: 34113005
Purpose: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease...
7.
Lahrouchi N, Postma A, Salazar C, De Laughter D, Tjong F, Piherova L, et al.
J Clin Invest
. 2021 Mar;
131(5).
PMID: 33645542
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a...
8.
van Walree E, Dombrowsky G, Jansen I, Mirkov M, Zwart R, Ilgun A, et al.
Genet Med
. 2020 Aug;
23(1):103-110.
PMID: 32820247
Purpose: In this study we aimed to establish the genetic cause of a myriad of cardiovascular defects prevalent in individuals from a genetically isolated population, who were found to share...
9.
A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects
Mohan R, van Engelen K, Stefanovic S, Barnett P, Ilgun A, Baars M, et al.
Am J Med Genet A
. 2014 Aug;
164A(11):2732-8.
PMID: 25099673
Atrial septal defect (ASD) is the most common congenital heart defect clinically characterized by an opening in the atrial septum. Mutations in GATA4, TBX5, and NKX2-5 underlie this phenotype. Here,...
10.
van Engelen K, Mommersteeg M, Baars M, Lam J, Ilgun A, van Trotsenburg A, et al.
PLoS One
. 2013 Jan;
7(12):e52685.
PMID: 23285148
NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a...