Search Results - "Reyniers E"

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Authors: Rooms, L. Reyniers, E. Wuyts, W. et al.

Source: Clinical Genetics. Jan2006, Vol. 69 Issue 1, p58-64. 7p.

G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Authors: Guergueltcheva, V. Peeters, K. Baets, J. et al.

Source: Neuromuscular Disorders. Oct2012, Vol. 22 Issue 9/10, p874-875. 2p.

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

Authors: Rosenblum J Beysen D Jansen AC et al.

Source: Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 104-112. Date of Electronic Publication: 2024 Oct 21.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study.

Authors: Thys L Beysen D Ceulemans B et al.

Source: Pediatric neurology [Pediatr Neurol] 2024 Dec; Vol. 161, pp. 1-8. Date of Electronic Publication: 2024 Aug 05.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Authors: Smal N Majdoub F Janssens K et al.

Corporate Authors: Smal N Majdoub F Janssens K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1378-1386. Date of Electronic Publication: 2024 Jul 04.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.

Authors: Beysen D De Cordt C Dielman C et al.

Source: Frontiers in neurology [Front Neurol] 2021 Apr 22; Vol. 12, pp. 617813. Date of Electronic Publication: 2021 Apr 22 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Authors: Stolerman ES Francisco E Stallworth JL et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jul; Vol. 179 (7), pp. 1276-1286. Date of Electronic Publication: 2019 May 23.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Authors: Metsu S Rooms L Rainger J et al.

Source: PLoS genetics [PLoS Genet] 2014 Apr 24; Vol. 10 (4), pp. e1004242. Date of Electronic Publication: 2014 Apr 24 (Print Publication: 2014).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Authors: Van der Aa N Vandeweyer G Reyniers E et al.

Source: Autism research : official journal of the International Society for Autism Research [Autism Res] 2012 Aug; Vol. 5 (4), pp. 277-81. Date of Electronic Publication: 2012 Jun 11.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101461858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-3806 (Electronic) Linking ISSN: 19393806 NLM ISO Abbreviation: Autism Res Subsets: MEDLINE

CNV-WebStore: online CNV analysis, storage and interpretation.

Authors: Vandeweyer G Reyniers E Wuyts W et al.

Source: BMC bioinformatics [BMC Bioinformatics] 2011 Jan 05; Vol. 12, pp. 4. Date of Electronic Publication: 2011 Jan 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105 (Electronic) Linking ISSN: 14712105 NLM ISO Abbreviation: BMC Bioinformatics Subsets: MEDLINE

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Authors: Demeulenaere S Beysen D De Veuster I et al.

Source: European journal of medical genetics [Eur J Med Genet] 2019 Aug; Vol. 62 (8), pp. 103691. Date of Electronic Publication: 2019 Jun 06.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.

Authors: Rooms L Reyniers E Scheers S et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2006 Oct; Vol. 14 (10), pp. 1090-6. Date of Electronic Publication: 2006 Jun 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Authors: Koolen DA Vissers LE Pfundt R et al.

Source: Nature genetics [Nat Genet] 2006 Sep; Vol. 38 (9), pp. 999-1001. Date of Electronic Publication: 2006 Aug 13.

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.

Authors: Luyckx I Kumar AA Reyniers E et al.

Corporate Authors: Luyckx I Kumar AA Reyniers E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Jul; Vol. 27 (7), pp. 1033-1043. Date of Electronic Publication: 2019 Feb 28.

Publication Type: Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.

Authors: Kooy RF Reyniers E Verhoye M et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Jul; Vol. 7 (5), pp. 526-32.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

Authors: Fransen E D'Hooge R Van Camp G et al.

Source: Human molecular genetics [Hum Mol Genet] 1998 Jun; Vol. 7 (6), pp. 999-1009.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

Authors: Jensen M Kooy RF Simon TJ et al.

Source: European journal of medical genetics [Eur J Med Genet] 2018 Apr; Vol. 61 (4), pp. 209-212. Date of Electronic Publication: 2017 Nov 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.

Authors: Ebo DG Van Gasse AL Sabato V et al.

Source: The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2018 Jan - Feb; Vol. 6 (1), pp. 277-279.e1. Date of Electronic Publication: 2017 Sep 06.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101597220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-2201 (Electronic) NLM ISO Abbreviation: J Allergy Clin Immunol Pract Subsets: MEDLINE

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.

Authors: Meester JA Vandeweyer G Pintelon I et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Apr; Vol. 19 (4), pp. 386-395. Date of Electronic Publication: 2016 Sep 15.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Authors: van der Werf IM Van Dijck A Reyniers E et al.

Source: Gene [Gene] 2017 Mar 20; Vol. 605, pp. 92-98. Date of Electronic Publication: 2016 Dec 16.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE