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

Two Siblings With CD151-Associated Epidermolysis Bullosa Harboring a Novel Variant.

Authors: Andres-Ibarrola P Villa-Gonzalez JM Garcia-Garcia A et al.

Source: International journal of dermatology [Int J Dermatol] 2026 Apr 28. Date of Electronic Publication: 2026 Apr 28.

Publication Type: Letter

Journal Info: Publisher: Blackwell Science Country of Publication: England NLM ID: 0243704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-4632 (Electronic) Linking ISSN: 00119059 NLM ISO Abbreviation: Int J Dermatol Subsets: MEDLINE

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

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Authors: Domingo-Gallego A Pybus M Bullich G et al.

Source: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2022 Mar 25; Vol. 37 (4), pp. 687-696.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.

Authors: Vado Y Pereda A Llano-Rivas I et al.

Source: Genes [Genes (Basel)] 2020 Dec 05; Vol. 11 (12). Date of Electronic Publication: 2020 Dec 05.

Publication Type: Case Reports; Research Support, Non-U.S. Gov't; 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

Prenatal and foetal autopsy findings in glutaric aciduria type II.

Authors: Martinez-Aracil A Ruiz-Onandi R Perez-Rodriguez A et al.

Source: Birth defects research [Birth Defects Res] 2020 Nov; Vol. 112 (19), pp. 1738-1749. Date of Electronic Publication: 2020 Sep 22.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Authors: Sentchordi-Montané L Benito-Sanz S Aza-Carmona M et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2020 Aug 01; Vol. 105 (8).

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

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

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

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Authors: Martinez-Cayuelas E Blanco-Kelly F Lopez-Grondona F et al.

Source: Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 644-654. Date of Electronic Publication: 2022 Nov 29.

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

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

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.

Authors: Vado Y Errea-Dorronsoro J Llano-Rivas I et al.

Source: BMC medical genomics [BMC Med Genomics] 2018 Dec 27; Vol. 11 (1), pp. 124. Date of Electronic Publication: 2018 Dec 27.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics

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

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.

Authors: Villate O Maortua H Tejada MI et al.

Source: Frontiers in pediatrics [Front Pediatr] 2022 Feb 02; Vol. 10, pp. 827802. Date of Electronic Publication: 2022 Feb 02 (Print Publication: 2022).

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

Novel APOB mutation in familial hypobetalipoproteinemia.

Authors: Domenech M Llano-Rivas I Arroyo V et al.

Source: Journal of clinical lipidology [J Clin Lipidol] 2022 Jan-Feb; Vol. 16 (1), pp. 28-32. Date of Electronic Publication: 2021 Nov 16.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Authors: Calmels N Greff G Obringer C et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 Mar 22; Vol. 11, pp. 26. Date of Electronic Publication: 2016 Mar 22.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Authors: Rojnueangnit K Xie J Gomes A et al.

Source: Human mutation [Hum Mutat] 2015 Nov; Vol. 36 (11), pp. 1052-63. Date of Electronic Publication: 2015 Aug 21.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Authors: Martínez-Fernández ML Fernández-Toral J Llano-Rivas I et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2034-41. Date of Electronic Publication: 2015 Apr 21.

Publication Type: Case Reports; 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

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.

Authors: Miñones-Suárez L Mas-Vidal A Fernandez-Toral J et al.

Source: Pediatric dermatology [Pediatr Dermatol] 2012 Nov-Dec; Vol. 29 (6), pp. 768-70. Date of Electronic Publication: 2011 Oct 13.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Authors: Salpietro V Malintan NT Llano-Rivas I et al.

Corporate Authors: Salpietro V Malintan NT Llano-Rivas I et al.

Source: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 721-730. Date of Electronic Publication: 2019 Mar 28.

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

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

Authors: Ochoa JP Sabater-Molina M García-Pinilla JM et al.

Source: Journal of the American College of Cardiology [J Am Coll Cardiol] 2018 Nov 13; Vol. 72 (20), pp. 2457-2467.

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

Journal Info: Publisher: Elsevier Biomedical Country of Publication: United States NLM ID: 8301365 Publication Model: Print Cited Medium: Internet ISSN: 1558-3597 (Electronic) Linking ISSN: 07351097 NLM ISO Abbreviation: J Am Coll Cardiol Subsets: MEDLINE

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Authors: Bullich G Domingo-Gallego A Vargas I et al.

Source: Kidney international [Kidney Int] 2018 Aug; Vol. 94 (2), pp. 363-371. Date of Electronic Publication: 2018 May 22.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE