Search Results - "Tilemis FN"

Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

Authors: Kekou K Papadopoulos C Svingou M et al.

Source: Neurogenetics [Neurogenetics] 2025 Sep 24; Vol. 26 (1), pp. 68. Date of Electronic Publication: 2025 Sep 24.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.

Authors: Tilemis FN Marinakis NM Veltra D et al.

Source: Genes [Genes (Basel)] 2023 Jul 21; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 21.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.

Authors: Tilemis FN Marinakis NM Kosma K et al.

Source: Molecular syndromology [Mol Syndromol] 2023 Jun; Vol. 14 (3), pp. 225-230. Date of Electronic Publication: 2023 Jan 13.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

Authors: Kollia E Kokkinou E Outsika C et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2025 Mar; Vol. 55, pp. 1-8. Date of Electronic Publication: 2025 Mar 03.

Publication Type: Journal Article

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.

Authors: Hu, Junji Xin, Min Liu, Jinxiu et al.

Source: BMC Medical Genomics. 7/15/2025, Vol. 18 Issue 1, p1-16. 16p.

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

Authors: Marinakis NM Tilemis FN Veltra D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 65-71. Date of Electronic Publication: 2024 Nov 02.

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

Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions.

Authors: Abdalla HM Abdelnabi M Khedr A et al.

Source: Current cardiology reports [Curr Cardiol Rep] 2026 Jun 23; Vol. 28 (1). Date of Electronic Publication: 2026 Jun 23.

Publication Type: Journal Article; Review

Journal Info: Publisher: Current Science Country of Publication: United States NLM ID: 100888969 Publication Model: Electronic Cited Medium: Internet ISSN: 1534-3170 (Electronic) Linking ISSN: 15233782 NLM ISO Abbreviation: Curr Cardiol Rep Subsets: MEDLINE

CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants.

Authors: Krause, Jeremias Classen, Carlos Dey, Daniela et al.

Source: BMC Bioinformatics. 12/17/2024, Vol. 25 Issue 1, p1-11. 11p.

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

Authors: Yan, Lulu He, Yan Zhang, Yuxin et al.

Source: BMC Medical Genomics. 12/11/2023, Vol. 16 Issue 1, p1-7. 7p.

Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.

Authors: Chang, Yu-Ming Huang, Yen-Ta Lai, Pei-Chun

Source: Systematic Reviews. 7/28/2025, Vol. 14 Issue 1, p1-11. 11p.

Whole exome sequencing: a new era in prenatal diagnostics.

Authors: Shi P Wang C Xia Y et al.

Source: Journal of translational medicine [J Transl Med] 2026 Feb 26; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE; In Process

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort.

Authors: Fu F Wei X Chen C et al.

Source: Human genomics [Hum Genomics] 2026 Feb 03; Vol. 20 (1). Date of Electronic Publication: 2026 Feb 03.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

A genotypic and phenotypic analysis of four unrelated Chinese patients with Pitt–Hopkins syndrome.

Authors: Jiang, Dandan Yang, Chengqing Hou, Mei et al.

Source: Egyptian Journal of Medical Human Genetics. 10/17/2024, Vol. 25 Issue 1, p1-9. 9p.

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Authors: Malbos M Gautier T Shillington A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Dec; Vol. 33 (12), pp. 1585-1595. Date of Electronic Publication: 2025 Sep 22.

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

Molecular genetics and therapeutic development for GNE myopathy.

Authors: Yoshioka W Noguchi S Nishino I

Source: Journal of human genetics [J Hum Genet] 2025 Sep 05. Date of Electronic Publication: 2025 Sep 05.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

The role of genetic testing in small for gestational age infants.

Authors: Kalimi E Zhao E Wise-Oringer B et al.

Source: Journal of perinatology : official journal of the California Perinatal Association [J Perinatol] 2025 Sep; Vol. 45 (9), pp. 1183-1190. Date of Electronic Publication: 2025 Jun 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 8501884 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5543 (Electronic) Linking ISSN: 07438346 NLM ISO Abbreviation: J Perinatol Subsets: MEDLINE

ENaC gene variants and their involvement in Covid‑19 severity.

Authors: Koniari, Eleni Hatziagapiou, Kyriaki Nikola, Alexandra Olti et al.

Source: Biomedical Reports. Dec2024, Vol. 21 Issue 6, pN.PAG-N.PAG. 1p.

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

Authors: Mitrakos A Kekou K Tilemis FN et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63826. Date of Electronic Publication: 2024 Jul 22.

Publication Type: Case Reports; 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

Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.

Authors: Luo DL Liu RP Hou XY et al.

Source: Frontiers in pediatrics [Front Pediatr] 2026 Feb 16; Vol. 13, pp. 1674481. Date of Electronic Publication: 2026 Feb 16 (Print Publication: 2025).

Publication Type: Case Reports; 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

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Authors: Christodoulaki V Kosma K Marinakis NM et al.

Source: Genes [Genes (Basel)] 2024 Aug 02; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 02.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE