Search Results - "Llano-Rivas I"

Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.

Authors: Nunes-Xavier CE Pallarès-Sastre M Rodríguez-Ramos A et al.

Source: PLoS genetics [PLoS Genet] 2025 Oct 13; Vol. 21 (10), pp. e1011907. Date of Electronic Publication: 2025 Oct 13 (Print Publication: 2025).

Publication Type: Journal Article

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

Molecular architecture of language‐related cortical areas revealed by integrative proteomic and connectome analyses.

Authors: Wu, Jinsong Wang, Zixian Li, Fengjiao et al.

Source: Clinical & Translational Medicine. Sep2025, Vol. 15 Issue 9, p1-22. 22p.

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Authors: Manero-Azua A Pereda A Llano-Rivas I et al.

Source: Frontiers in genetics [Front Genet] 2023 Oct 03; Vol. 14, pp. 1274056. Date of Electronic Publication: 2023 Oct 03 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.

Authors: Krgovic, Danijela Gradisnik, Peter Osterc Koprivsek, Andreja et al.

Source: Biomolecules (2218-273X). Mar2026, Vol. 16 Issue 3, p399. 22p.

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Authors: Alba-Pavón P Astigarraga I Alaña L et al.

Source: Translational pediatrics [Transl Pediatr] 2023 Sep 18; Vol. 12 (9), pp. 1715-1724. Date of Electronic Publication: 2023 Sep 06.

Publication Type: Journal Article

Journal Info: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101649179 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2224-4344 (Print) Linking ISSN: 22244336 NLM ISO Abbreviation: Transl Pediatr Subsets: PubMed not MEDLINE

Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.

Authors: Zhang, Bijun Zhang, Dongyang Sun, Feiyue et al.

Source: Orphanet Journal of Rare Diseases. 3/12/2025, Vol. 20 Issue 1, p1-10. 10p.

Acetylation-triggered degradation of MSX1 impairs palatal development.

Authors: Meng L You J Zhang Z et al.

Source: Cell death discovery [Cell Death Discov] 2026 Mar 19; Vol. 12 (1). Date of Electronic Publication: 2026 Mar 19.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE

Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.

Authors: Garris, Jordan Abbott, Megan Axeen, Erika et al.

Source: Epilepsy Currents. Dec2025, Vol. 25 Issue 6, p378-388. 11p.

Aspecte clinico-genetice în sindromul Russel-Silver.

Alternate Title: Clinical and genetic aspects in Russell-Silver Syndrome.

Authors: Solomud, Iuliana Hadjiu, Svetlana Sprîncean, Serghei et al.

Source: Journal for Neurology & Psychiatry of Child & Adolescent in Romania. Dec2025, Vol. 31 Issue 4, p55-66. 12p.

External ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.

Authors: Ghafari, Arman Alaniz, Leonardo Vu, Cindy et al.

Source: PLoS ONE. 9/19/2024, Vol. 19 Issue 9, p1-17. 17p.

A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases.

Authors: Caliment, Ancuta Van Reeth, Olil Hougardy, Charlotte et al.

Source: Pediatric Nephrology. Sep2024, Vol. 39 Issue 9, p2733-2740. 8p.

Genetic diagnosis of Alport syndrome in 16 Chinese families.

Authors: Xiao, Tangli Zhang, Jun Liu, Li et al.

Source: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-7. 7p.

Genetic mutations and synaptic dysfunctions in social interaction disorders: insights from invertebrate models to humans.

Authors: Anadu VE Oyerinde TO Gbayisomore TJ et al.

Source: Metabolic brain disease [Metab Brain Dis] 2026 Jul 04; Vol. 41 (1). Date of Electronic Publication: 2026 Jul 04.

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

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

Integrated Behavioral and Proteomic Characterization of MPP + -Induced Early Neurodegeneration and Parkinsonism in Zebrafish Larvae.

Authors: Maleski, Adolfo Luis Almeida da Cunha e Silva, Felipe Assumpção Echeverry, Marcela Bermudez et al.

Source: International Journal of Molecular Sciences. Jul2025, Vol. 26 Issue 14, p6762. 23p.

Multifocal Gastrointestinal Stromal Tumors (GISTs) of the Small Intestine in Patients with Neurofibromatosis Type 1 (NF-1): Meta-Analysis and Systematic Review of the Literature.

Authors: Mantalovas, Stylianos Karakousis, Vasileios Alexandros Sevva, Christina et al.

Source: Cancers. Jun2025, Vol. 17 Issue 12, p1934. 29p.

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.

Authors: Yigit, Gökhan Kaulfuß, Silke Wollnik, Bernd

Source: Medizinische Genetik. Jun2025, Vol. 37 Issue 2, p103-111. 9p.

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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Authors: Tran Mau‐Them, Frederic Duffourd, Yannis Vitobello, Antonio et al.

Source: Molecular Genetics & Genomic Medicine. Dec2021, Vol. 9 Issue 12, p1-15. 15p.

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Authors: Durmaz, Ceren Damla Altıner, Şule Taşdelen, Elifcan et al.

Source: Fetal & Pediatric Pathology. October 2021, Vol. 40 Issue 5, p486-492. 7p.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Authors: Kayumi S Pérez-Jurado LA Palomares M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2351-2366. Date of Electronic Publication: 2022 Sep 09.

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