Search Results - "Tilemis FN"

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

IL-1R/IL-6R blockade for null NLRP12 variant-carrying Takayasu arteritis.

Authors: Argyropoulou OD Marinakis NM Charalampopoulos G et al.

Source: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2026 Jan 08; Vol. 65 (1).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE; In Process

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Authors: Marinakis NM Kampouraki A Veltra D et al.

Source: Clinical genetics [Clin Genet] 2026 Jan; Vol. 109 (1), pp. 176-180. Date of Electronic Publication: 2025 Jun 23.

Publication Type: Journal Article; Case Reports; 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

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

Authors: Ruggieri AG Marinakis NM Amodei L et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Nov 22; Vol. 26 (23). Date of Electronic Publication: 2025 Nov 22.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: 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

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

Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.

Authors: Zacharogianni M Papandreou NC Marinakis NM et al.

Source: American journal of ophthalmology [Am J Ophthalmol] 2025 Jun; Vol. 274, pp. 112-121. Date of Electronic Publication: 2025 Mar 04.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol 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

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

A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.

Authors: Veltra D Kosma K Papavasiliou A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3563-3566. Date of Electronic Publication: 2022 Sep 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

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Authors: Marinakis NM Svingou M Veltra D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2561-2571. Date of Electronic Publication: 2021 May 19.

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

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

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.

Authors: Nikolaou M Vasilakis IA Marinakis NM et al.

Source: Hormones (Athens, Greece) [Hormones (Athens)] 2023 Sep; Vol. 22 (3), pp. 515-520. Date of Electronic Publication: 2023 Jul 26.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2520-8721 (Electronic) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.

Authors: Kekou K Svingou M Vogiatzakis N et al.

Source: Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jul-Dec; Vol. 23 (11), pp. 999-1010. Date of Electronic Publication: 2023 Oct 24.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Authors: Veltra D Tilemis FN Marinakis NM et al.

Source: Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jan; Vol. 23 (1), pp. 85-103. Date of Electronic Publication: 2023 Feb 14.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE