Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Nele Cosemans"'
Autor:
Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew O’Sullivan, Amirhossein Jalali, Eva B. Forman, Sally A. Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O’Brien, Leo R. Quinlan, Louise Gallagher, Sanbing Shen
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-16 (2019)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schi
Externí odkaz:
https://doaj.org/article/b803d63fdbf846af810983483fa07c78
Autor:
Annick Vogels, Maureen Holvoet, Kris Van Den Bogaert, Ilse Noens, Nele Cosemans, Koen Devriendt, Hilde Peeters, Jean Steyaert, Jarymke Maljaars
Publikováno v:
neurogenetics. 22:207-213
A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis. Subsequent screening of in-house and publicly available databases resulted
Autor:
Hilde Van Esch, Joris Vermeesch, Louise Gallagher, Eric Legius, Griet Van Buggenhout, Thomy de Ravel, Laura Vandenhove, Peter Aerssens, Nele Cosemans, Koenraad Devriendt, Annick Vogels, Sanbing Shen, Hilde Olivié, Jacqueline Fitzgerald, Hilde Peeters, Jeroen Breckpot, Els Ortibus
Publikováno v:
Journal of Medical Genetics. 57:347-355
BackgroundIntragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provi
Autor:
Janusz Krawczyk, Timothy O'Brien, Leo R. Quinlan, Yanqin Wang, Stephanie D. Boomkamp, Nele Cosemans, Sahar Avazzadeh, Katya McDonagh, Niamh Feerick, Louise Gallagher, Sanbing Shen, Jamie Reilly, Eva B. Forman, Peter Dockery, Veronica McInerney, Hilde Peeters, Amirhossein Jalali, Jacqueline Fitzgerald, Sally Ann Lynch, Matthew O’Sullivan, Sean Ennis
Publikováno v:
Molecular Autism
Molecular Autism, Vol 10, Iss 1, Pp 1-16 (2019)
Molecular Autism, Vol 10, Iss 1, Pp 1-16 (2019)
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia
Autor:
Erika Souche, Elisenda Eixarch, Molka Kammoun, Nele Cosemans, Jan Deprest, Paul Brady, Jia Ding, Joris Vermeesch, Eduard Gratacós, Koen Devriendt
Publikováno v:
Prenatal Diagnosis. 38:654-663
BACKGROUND Congenital diaphragmatic hernia (CDH) is characterized by a defective closure of the diaphragm occurring as an isolated defect in 60% of cases. Lung size, liver herniation, and pulmonary circulation are major prognostic indices. Isolated C
Autor:
Toni Kasole Lubala, A Lulebo Mampasi, T.J.L. de Ravel, Gerrye Mubungu, Leon Mutesa, Jeroen Breckpot, Nono Mvuama, Sébastien Mbuyi-Musanzayi, Nele Cosemans, G Van Buggenhout, Aimé Lumaka, Koenraad Devriendt, Hilde Peeters, Alain Verloes, Maureen Holvoet, Dian Donnai, P. Lukusa Tshilobo
Publikováno v:
Clinical Genetics. 92:166-171
The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced
Autor:
Armin Von Gunten, Danielle Posthuma, Jürgen Margraf, Nele Cosemans, Silvia Schneider, Stefania Bortoluzzi, A.T. Marees
Publikováno v:
European Neuropsychopharmacology. 27:S139-S356
Background: Alcohol and nicotine consumption are two of the most important preventable causes of morbidity and premature death worldwide. In western populations, alcohol and nicotine consumption are highly correlated which further increases medical c
Autor:
Nele, Cosemans, Laura, Vandenhove, Annick, Vogels, Koenraad, Devriendt, Hilde, Van Esch, Griet, Van Buggenhout, Hilde, Olivié, Thomy, de Ravel, Els, Ortibus, Eric, Legius, Peter, Aerssens, Jeroen, Breckpot, Joris, R Vermeesch, Sanbing, Shen, Jacqueline, Fitzgerald, Louise, Gallagher, Hilde, Peeters
Publikováno v:
Journal of medical genetics. 57(5)
IntragenicThe literature cohort covered 629 heterozygousThe prevalence of exonicExon 6-24 deletions have a high penetrance and are mainly associated with ID and schizophrenia. In contrast, the actual contribution of exon 1-5 deletions to a neurodevel
Autor:
Hilde Van Esch, Laura Vandenhove, Nele Cosemans, Hilde Peeters, Jarymke Maljaars, Ilse Noens, Amanda Baldwin, Jean-Pierre Fryns, Koenraad Devriendt
We describe a patient with a de novo balanced translocation 46,XY,t(9; 13)(q31.2; q22.1) and autism spectrum disorder, intellectual disability, a metopic craniosynostosis, a corpus callosum dysgenesis and dysmorphic facial features, most notably ptos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c32a3ed4bc4f832424f4bd94a90c772
https://lirias.kuleuven.be/handle/123456789/614936
https://lirias.kuleuven.be/handle/123456789/614936
Publikováno v:
Statistical Applications in Genetics and Molecular Biology. 17
Arrays based on single nucleotide polymorphisms (SNPs) have been successful for the large scale discovery of copy number variants (CNVs). However, current CNV calling algorithms still have limitations in detecting CNVs with high specificity and sensi