Search Results - "Beunders G"

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.

Authors: Rizzi, T. S. Beunders, G. Rizzu, P. et al.

Source: Genes, Brain & Behavior. Oct2012, Vol. 11 Issue 7, p767-771. 5p. 1 Chart, 1 Graph.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Authors: Willemsen, M. H. Beunders, G. Callaghan, M. et al.

Source: Clinical Genetics. Jul2011, Vol. 80 Issue 1, p31-38. 8p. 2 Black and White Photographs, 1 Diagram, 1 Graph.

The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits.

Authors: Jansen, C. Parchi, P. Jelles, B. et al.

Source: Neuropathology & Applied Neurobiology. Aug2011, Vol. 37 Issue 5, p549-553. 5p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram.

AUTS2-related syndrome: Insights from a large European cohort.

Authors: Loberti L Adamo L Antolini E et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101375. Date of Electronic Publication: 2025 Feb 12.

Publication Type: Journal Article

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

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Authors: Rossi A Blok LS Neuser S et al.

Source: Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 186-197. Date of Electronic Publication: 2023 May 10.

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

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

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Authors: Rots D Bouman A Yamada A et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1605-1625. Date of Electronic Publication: 2024 Jul 15.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Authors: Bosch E Popp B Güse E et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100950. Date of Electronic Publication: 2023 Aug 05.

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

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

Authors: van der Spek J den Hoed J Snijders Blok L et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1283-1296. Date of Electronic Publication: 2022 Mar 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Authors: Imafidon ME Sikkema-Raddatz B Abbott KM et al.

Source: Frontiers in pediatrics [Front Pediatr] 2021 May 31; Vol. 9, pp. 600556. Date of Electronic Publication: 2021 May 31 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

DLG4-related synaptopathy: a new rare brain disorder.

Authors: Rodríguez-Palmero A Boerrigter MM Gómez-Andrés D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

Authors: Beunders G de Munnik SA Van der Aa N et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jun; Vol. 23 (6), pp. 803-7. Date of Electronic Publication: 2014 Sep 10.

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

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Authors: Diets IJ van der Donk R Baltrunaite K et al.

Source: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 758-766. Date of Electronic Publication: 2019 Mar 28.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.

Authors: Beunders G Dekker M Haver O et al.

Source: European journal of medical genetics [Eur J Med Genet] 2018 Apr; Vol. 61 (4), pp. 213-218. Date of Electronic Publication: 2017 Nov 27.

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

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

Authors: Beunders G van de Kamp J Vasudevan P et al.

Corporate Authors: Beunders G van de Kamp J Vasudevan P et al.

Source: Journal of medical genetics [J Med Genet] 2016 Aug; Vol. 53 (8), pp. 523-32. Date of Electronic Publication: 2016 Apr 13.

Publication Type: Journal Article

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Authors: Koolen DA Pfundt R Linda K et al.

Corporate Authors: Koolen DA Pfundt R Linda K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 May; Vol. 24 (5), pp. 652-9. Date of Electronic Publication: 2015 Aug 26.

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: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authors: Beunders G Voorhoeve E Golzio C et al.

Source: American journal of human genetics [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 210-20. Date of Electronic Publication: 2013 Jan 17.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

Authors: Beunders G van de Kamp JM Veenhoven RH et al.

Source: Journal of medical genetics [J Med Genet] 2010 Apr; Vol. 47 (4), pp. 271-5. Date of Electronic Publication: 2009 Sep 14.

Publication Type: Case Reports; Letter

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE