Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Azubel Ramírez-Velazco"'
1
22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features
Autor: Azubel Ramírez Velazco, Horacio Rivera Ramírez, Ana Isabel Vásquez Velázquez, Thania Alejandra Aguayo Orozco, Saturnino Delgadillo Pérez, María Guadalupe Dominguez
Publikováno v: Colombia Médica : CM
Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.We looked for a 22q11.2 deletion
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b64ba5b7b481fee9c2d45430b52584cd
http://europepmc.org/articles/PMC6220481
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4
[Atypical deletions in Williams-Beuren syndrome]
Autor: Azubel, Ramírez-Velazco, Ma Guadalupe, Domínguez-Quezada
Publikováno v: Revista medica del Instituto Mexicano del Seguro Social. 55(5)
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0ecb14e9ec6596b58eb228ce48b1f796
https://pubmed.ncbi.nlm.nih.gov/29193944
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6
Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring
Autor: Luis Felipe Jave-Suárez, Luis E. Figuera, Adriana Aguilar-Lemarroy, Isaura A. González-Ramos, Azubel Ramírez-Velazco, M G Domínguez, Aniel Jl. Brambila-Tapia, Horacio Rivera, Miriam Partida-Pérez, Bianca Ethel Gutiérrez-Amavizca, Patricio Barros-Núñez
Publikováno v: Clinical dysmorphology. 26(4)
In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.3). Patient 2 was a boy with dup(2)(q24.2q32.1). Both familial rearrangements were cha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19dbc9e921723f62bcabfbb179bdde0
https://pubmed.ncbi.nlm.nih.gov/28737552
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7
De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes
Autor: Rocio Ortiz-Lopez, Roberto Iván Avendaño-Gálvez, Azubel Ramírez-Velazco, Verónica Judith Picos-Cárdenas, Horacio Rivera, Carlos Córdova-Fletes, Eliakym Arámbula-Meraz, Enrique Sáinz-González
Publikováno v: Journal of genetics. 93(3)
1Laboratorio de Citogenomica y Microarreglos, Departamento de Bioquimica y Medicina Molecular, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 64460, Mexico 2Unidad de Biologia Molecular, Genomica y Secuenciacion, Cent
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fac26e16b670dbcb2d29ea4c3e09ce
https://pubmed.ncbi.nlm.nih.gov/25572250
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8
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion
Autor: Carlos Córdova-Fletes, Luis E. Figuera, Vivian Alejandra Neira, Azubel Ramírez-Velazco, Michela Barbaro, Rocio Ortiz-Lopez, Yohann Grondin
Publikováno v: American journal of medical genetics. Part A. (6)
Complex 9p Rearrangement in an XY Patient With Ambiguous Genitalia and Features of Both 9p Duplication and Deletion Vivian Alejandra Neira, Carlos C ordova-Fletes,* Yohann Grondin, Azubel Ramirez-Velazco, Luis E. Figuera, Roc io Ort iz-L opez, and Mi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9853be6d9c62761711c19b9d54939fc
https://pubmed.ncbi.nlm.nih.gov/22581498
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