Výsledky vyhledávání - "3p13 deletion"

Report

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature.

Autor: Abarca-Barriga HH; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Perú.; Facultad de Odontología, Universidad Científica del Sur, Lima, Perú., Trubnykova M; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú., Chavesta-Velásquez F; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú., Barletta-Carrillo C; Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú.; Laboratorio de Genética Humana, Universidad Nacional Mayor de San Marcos, Lima, Perú., Ordoñez-Linares M; Hospital Antonio Lorena, Cusco, Perú.; Escuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú., Rondón-Abuhadba A; Escuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2020 Dec; Vol. 9 (4), pp. 270-278. Date of Electronic Publication: 2020 Jan 06.

Zobrazit plný text záznamu

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

Autor: Félix Chavesta-Velásquez, Marco Edmundo Ordoñez-Linares, Milana Trubnykova, Claudia Barletta-Carrillo, Hugo Abarca-Barriga, Andrea Rondón-Abuhadba

Publikováno v: J Pediatr Genet

Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5039003837beccbdbcd55b1f945e1dd8
https://europepmc.org/articles/PMC7396471/

Zobrazit plný text záznamu

A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay

Autor: Kye Hee Cho, Sung Han Shim, MinYoung Kim

Publikováno v: Genes & Genomics. 39:121-126

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a2e5f271fe2637159326501b682545e
https://doi.org/10.1007/s13258-016-0470-y

Zobrazit plný text záznamu

Erratum to: A de novo 3p13 deletion induced by a complex chromosomal rearrangement combined with a pericentric inversion of chromosome 3, inv(3)(p13q12), and a translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2), in a child with developmental delay

Autor: Sung Han Shim, Min-Young Kim, Kye Hee Cho

Publikováno v: Genes & Genomics. 39:243-243

A de novo complex chromosomal rearrangement is very rare but likely to be present in a child with developmental disabilities and physical alterations. A child presented in this study showed global developmental delay and some typical phenotypes. Init

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf5075996d55b7614711a1b890338bcd
https://doi.org/10.1007/s13258-016-0503-6

Zobrazit plný text záznamu

Akademický článek

Immunodeficiency Associated with FOXP1 (3p13) Deletion

Autor: Netterville, Adrianne C., Wall, Luke A.

Publikováno v: In The Journal of Allergy and Clinical Immunology February 2015 135(2) Supplement:AB181-AB181

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Immunodeficiency Associated with FOXP1 (3p13) Deletion

Autor: Adrianne C. Netterville, Luke A. Wall

Publikováno v: Journal of Allergy and Clinical Immunology. 135:AB181

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::409514898f98064ff4b5e6478c7bee23
https://doi.org/10.1016/j.jaci.2014.12.1524

Zobrazit plný text záznamu

Akademický článek

Deletion of 3p13 is a late event linked to progression of TMPRSS2:ERG fusion prostate cancer

Autor: Kluth M, Volta H, Hussein M, Taskin B, Frogh S, Möller-Koop C, Büscheck F, Jacobsen F, Tsourlakis MC, Lübke AM, Hinsch A, Clauditz T, Graefen M, Heinzer H, Huland H, Minner S, Sauter G, Wilczak W, Schlomm T, Simon R

Publikováno v: Cancer Management and Research, Vol Volume 10, Pp 5909-5917 (2018)

Martina Kluth,1,* Heinke Volta,1,* Mohammad Hussein,1 Billurvan Taskin,1 Sohall Frogh,1 Christina Möller-Koop,1 Franziska Büscheck,1 Frank Jacobsen,1 Maria Christina Tsourlakis,1 Andreas M Lübke,1 Andrea Hinsch,1 Till Clauditz,1 Markus Graefen,2 H

Externí odkaz: https://doaj.org/article/9a267aee43fb4c788c1f52a2ef132b3c

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání