Search Results - "Gener B"

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.

Authors: Castro, L.P. Sahbatou, M. Kehdy, F.S.G. et al.

Source: Mutation Research - Genetic Toxicology & Environmental Mutagenesis. Apr2020, Vol. 852, pN.PAG-N.PAG. 1p.

Subject Terms: Xeroderma pigmentosum, Genetic distance, Genetic mutation, Consanguinity

Geographic Terms: Goiás (Brazil), Brazil

The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Authors: Schönewolf‐Greulich, B. Tejada, M.‐I. Stephens, K. et al.

Source: Clinical Genetics. Jun2016, Vol. 89 Issue 6, p733-738. 7p.

Prenatal diagnosis of severe structural congenital malformations in Europe.

Authors: Garne, E. Loane, M. Dolk, H. et al.

Source: Ultrasound in Obstetrics & Gynecology. Jan2005, Vol. 25 Issue 1, p6-11. 6p. 4 Charts, 1 Map.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

Authors: Baquero‐Montoya, C. Gil‐Rodríguez, M.C. Braunholz, D. et al.

Source: Clinical Genetics. Dec2014, Vol. 86 Issue 6, p595-597. 3p. 1 Graph.

HP48 : Coexistence of unilateral and bilateral retinitis pigmentosa in the same family.

Authors: Melgar Jiménez, B. Zabalo San Juan, J. Echeverría Guibert, T. et al.

Source: Clinical Neurophysiology. Mar2022, Vol. 135, pe12-e12. 1p.

Modulation of NEAT1 and MALAT1 expression in WJ-MSCs by Covid-19 serum: a foundation for EVs-mediated therapy.

Authors: Infante A Cabodevilla L Gener B et al.

Source: Respiratory research [Respir Res] 2025 Nov 10; Vol. 26 (1), pp. 313. Date of Electronic Publication: 2025 Nov 10.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Authors: Trujillano L Valenzuela I Costa-Roger M et al.

Source: Clinical genetics [Clin Genet] 2025 Jun; Vol. 107 (6), pp. 646-662. Date of Electronic Publication: 2025 Jan 20.

Publication Type: Journal Article; 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

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Authors: Möller B Becker LL Saffari A et al.

Source: Brain : a journal of neurology [Brain] 2025 Feb 03; Vol. 148 (2), pp. 597-612.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

Authors: De Mori R Tardivo S Pollara L et al.

Source: Cell and tissue research [Cell Tissue Res] 2024 May; Vol. 396 (2), pp. 255-267. Date of Electronic Publication: 2024 Mar 19.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417625 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0878 (Electronic) Linking ISSN: 0302766X NLM ISO Abbreviation: Cell Tissue Res Subsets: MEDLINE

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Authors: Nevado J García-Miñaúr S Palomares-Bralo M et al.

Corporate Authors: Nevado J García-Miñaúr S Palomares-Bralo M et al.

Source: Frontiers in genetics [Front Genet] 2022 Apr 12; Vol. 13, pp. 652454. Date of Electronic Publication: 2022 Apr 12 (Print Publication: 2022).

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

PIGN encephalopathy: Characterizing the epileptology.

Authors: Bayat A de Valles-Ibáñez G Pendziwiat M et al.

Source: Epilepsia [Epilepsia] 2022 Apr; Vol. 63 (4), pp. 974-991. Date of Electronic Publication: 2022 Feb 18.

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

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta.

Authors: Infante A Alcorta-Sevillano N Macías I et al.

Source: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie [Biomed Pharmacother] 2024 Jun; Vol. 175, pp. 116725. Date of Electronic Publication: 2024 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 8213295 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6007 (Electronic) Linking ISSN: 07533322 NLM ISO Abbreviation: Biomed Pharmacother 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

Primrose syndrome: Characterization of the phenotype in 42 patients.

Authors: Melis D Carvalho D Barbaro-Dieber T et al.

Source: Clinical genetics [Clin Genet] 2020 Jun; Vol. 97 (6), pp. 890-901. Date of Electronic Publication: 2020 Apr 20.

Publication Type: Journal Article; 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

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.

Authors: Ibarluzea N Hoz AB Villate O et al.

Source: Genes [Genes (Basel)] 2020 Jan 02; Vol. 11 (1). Date of Electronic Publication: 2020 Jan 02.

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

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

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Authors: Foster A Zachariou A Loveday C et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2019 Dec; Vol. 181 (4), pp. 502-508. Date of Electronic Publication: 2019 Sep 03.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin 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

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Authors: Tarilonte M Morín M Ramos P et al.

Source: Frontiers in genetics [Front Genet] 2018 Oct 17; Vol. 9, pp. 479. Date of Electronic Publication: 2018 Oct 17 (Print Publication: 2018).

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

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Authors: Cospain A Rivera-Barahona A Dumontet E et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2475-2486. Date of Electronic Publication: 2022 Oct 04.

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

Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.

Authors: Tarilonte M Ramos P Moya J et al.

Source: Journal of medical genetics [J Med Genet] 2022 May; Vol. 59 (5), pp. 428-437. Date of Electronic Publication: 2021 Mar 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