Search Results - "Llano-Rivas, Isabel"

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

Authors: Martínez‐Fernández, María Luisa Fernández‐Toral, Joaquin Llano‐Rivas, Isabel et al.

Source: American Journal of Medical Genetics. Part A; Sep2015, Vol. 167A Issue 9, p2034-2041, 8p

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

Authors: Andres‐Ibarrola, Patricia Villa‐Gonzalez, Jose Maria Garcia‐Garcia, Alberto et al.

Source: International Journal of Dermatology. Apr2026, p1. 4p. 1 Illustration.

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

Authors: Vado, Yerai Errea-Dorronsoro, Javier Llano-Rivas, Isabel et al.

Source: BMC Medical Genomics. 12/27/2018, Vol. 11 Issue 1, pN.PAG-N.PAG. 1p.

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

Authors: Calmels, Nadège Greff, Géraldine Obringer, Cathy et al.

Source: Orphanet Journal of Rare Diseases. 3/22/2016, Vol. 11, p1-16. 16p.

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

Authors: Domingo-Gallego, Andrea Pybus, Marc Bullich, Gemma et al.

Source: Nephrology Dialysis Transplantation. Apr2022, Vol. 37 Issue 4, p687-696. 10p.

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

Authors: Vado, Yerai Pereda, Arrate Llano-Rivas, Isabel et al.

Source: Genes. Dec2020, Vol. 11 Issue 12, p1461-1461. 1p.

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Authors: Pangrazio, Alessandra Puddu, Alessandro Oppo, Manuela et al.

Source: BONE (8756-3282). Feb2014, Vol. 59, p122-126. 5p.

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

Authors: Miñones-Suárez, Lorena Mas-Vidal, Alberto Fernandez-Toral, Joaquin et al.

Source: Pediatric Dermatology. Nov/Dec2012, Vol. 29 Issue 6, p768-770. 2p. 1 Color Photograph, 1 Diagram.

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

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

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

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