Search Results - "Beunders G"

Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart Defects.

Authors: Damnjanovic, Tatjana Maksimovic, Nela Djuranovic Uklein, Ana et al.

Source: Cardiogenetics. Jun2026, Vol. 16 Issue 2, p13. 18p.

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

Vascular anomalies in Koolen‐de Vries syndrome: Expanding the spectrum of cutaneous findings.

Authors: Hasbun Zegpi, María Trinidad Alfaro‐Sepúlveda, Daniela Schonhaut Berman, Luisa et al.

Source: JEADV Clinical Practice. Jun2024, Vol. 3 Issue 2, p726-728. 3p.

WBSCR Locus: At the Crossroads of Human Behavioral Disorders and Domestication of Animals.

Authors: Shepelev, Mikhail V. Skobel, Olga I. Glazko, Tatiana T. et al.

Source: International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 17, p8549. 21p.

MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy.

Authors: Ressler, Hadley W. Humphrey, Jack Vialle, Ricardo A. et al.

Source: Acta Neuropathologica Communications. 8/17/2024, Vol. 12 Issue 1, p1-12. 12p.

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

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

DNA methylation patterns in umbilical cord blood from infants of methadone maintained opioid dependent mothers.

Authors: Adegboyega, Oluwatobi Gayen nee' Betal, Suhita Urday, Pedro et al.

Source: Scientific Reports. 7/27/2024, Vol. 14 Issue 1, p1-12. 12p.

Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy.

Authors: Alomairah, Hamad Ali, Abdullah Altemaimi, Rabeah et al.

Source: Ophthalmic Genetics. Apr2024, Vol. 45 Issue 2, p164-166. 3p.

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.

Authors: García‐Santiago, Fe Amalia Martínez‐Payo, Cristina Mansilla, Elena et al.

Source: Molecular Genetics & Genomic Medicine. May2021, Vol. 9 Issue 5, p1-6. 6p.

Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.

Authors: Mirahmadi M Kahani SM Sharifi-Zarchi A et al.

Source: Biochemical genetics [Biochem Genet] 2026 Jun; Vol. 64 (3), pp. 3867-3895. Date of Electronic Publication: 2025 Aug 16.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.

Authors: Verboven AHA Puvogel S Latour BL et al.

Source: Molecular psychiatry [Mol Psychiatry] 2026 Jun; Vol. 31 (6), pp. 3558-3575. Date of Electronic Publication: 2026 Feb 12.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Molecular genetics of congenital heart disease.

Authors: Zhang X Qi M Fu Q

Source: Science China. Life sciences [Sci China Life Sci] 2025 Aug; Vol. 68 (8), pp. 2225-2242. Date of Electronic Publication: 2025 Mar 27.

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

Journal Info: Publisher: Science China Press, co-published with Springer Country of Publication: China NLM ID: 101529880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1869-1889 (Electronic) Linking ISSN: 16747305 NLM ISO Abbreviation: Sci China Life Sci Subsets: MEDLINE

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.

Authors: Saeki, Saki Enokizono, Takashi Imagawa, Kazuo et al.

Source: Clinical Case Reports. Nov2019, Vol. 7 Issue 11, p2059-2063. 5p.

Knockout mouse models as a resource for the study of rare diseases.

Authors: da Silva-Buttkus, Patricia Spielmann, Nadine Klein-Rodewald, Tanja et al.

Source: Mammalian Genome. Jun2023, Vol. 34 Issue 2, p244-261. 18p.

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.

Authors: Das, Maitreya Girirajan, Santhosh

Source: Genome Medicine. 6/7/2021, Vol. 13 Issue 1, p1-4. 4p.

CRS: a circadian rhythm score model for predicting prognosis and treatment response in cancer patients.

Authors: Liu, Yuwei Guo, Shuang Sun, Yue et al.

Source: Journal of Translational Medicine. 3/9/2023, Vol. 21 Issue 1, p1-16. 16p.

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.

Authors: Granata, Paola Zito, Alessandra Cocciadiferro, Dario et al.

Source: BMC Genomics. 12/10/2024, Vol. 25 Issue 1, p1-17. 17p.

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

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Authors: Frisk, Sofia Wachtmeister, Alexandra Laurell, Tobias et al.

Source: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-12. 12p.