Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Cinthya J. Zepeda‐Mendoza"'
Autor:
Alaa Koleilat, Hongwei Tang, Neeraj Sharma, Huihuang Yan, Shulan Tian, James Smadbeck, Suganti Shivaram, Reid Meyer, Kathryn Pearce, Michael Baird, Cinthya J. Zepeda-Mendoza, Xinjie Xu, Patricia T. Greipp, Jess F. Peterson, Rhett P. Ketterling, P. Leif Bergsagel, Celine Vachon, S. Vincent Rajkumar, Shaji Kumar, Yan W. Asmann, Eran Elhaik, Linda B. Baughn
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100816- (2023)
Purpose: Fluorescence in situ hybridization (FISH) is the current gold standard assay that provides information related to risk stratification and therapeutic selection for individuals with plasma cell neoplasms. The differential hybridization of FIS
Externí odkaz:
https://doaj.org/article/bdb1450b83b94d0aad07ade9460e3bcb
Autor:
Zirui Dong, Dezso David, Claudia Gonzaga-Jauregui, Cynthia C. Morton, Cinthya J. Zepeda-Mendoza
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/4f7122da0cba42e88730f6837d269439
Autor:
Cinthya J. Zepeda‐Mendoza, Jordan E. Bontrager, Camille F. Fisher, Amber McDonald, Jaya K. George‐Abraham, Linda Hasadsri
Publikováno v:
Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassi
Externí odkaz:
https://doaj.org/article/1270659793a3440bacd9b40755d7de07
Autor:
Cinthya J. Zepeda‐Mendoza, Anna Essendrup, Stephanie A. Smoley, Sarah H. Johnson, Nicole L Hoppman, George Vasmatzis, Daniel L. Jackson, Hutton M. Kearney, Linda B. Baughn
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Externí odkaz:
https://doaj.org/article/b75342e9196e4580a66a44c90a6d35e5
Autor:
Alaa Koleilat, James B. Smadbeck, Cinthya J. Zepeda‐Mendoza, Cynthia M. Williamson, Beth A. Pitel, Crystal L. Golden, Xinjie Xu, Patricia T. Greipp, Rhett P. Ketterling, Nicole L. Hoppman, Jess F. Peterson, Christine J. Harrison, Yassmine M. N. Akkari, Karen D. Tsuchiya, Mary Shago, Linda B. Baughn
Publikováno v:
Genes, Chromosomes and Cancer. 61:710-719
Acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21-ALL) represents a recurrent high-risk cytogenetic abnormality and accurate identification is critical for appropriate clinical management. Identificatio
Autor:
Linda B. Baughn, Anna Essendrup, Cinthya J. Zepeda-Mendoza, Hutton M. Kearney, Daniel L. Jackson, Nicole L. Hoppman, George Vasmatzis, Stephanie A. Smoley, Sarah Johnson
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Clinical Case Reports
Clinical Case Reports
This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Autor:
Dena R. Matalon, Cinthya J. Zepeda-Mendoza, Mahmoud Aarabi, Kaitlyn Brown, Stephanie M. Fullerton, Shagun Kaur, Fabiola Quintero-Rivera, Matteo Vatta
Publikováno v:
Genetics in Medicine. :100812
Autor:
Aditya Raghunathan, Martin Matthews, Caterina Giannini, Sara Acree, Rachael A. Vaubel, Cinthya J. Zepeda-Mendoza, Shabnam Zarei, Cristiane M. Ida, Robert B. Jenkins
Publikováno v:
Acta Neuropathol
No abstract
Autor:
Gregory M. Rice, Cinthya J. Zepeda-Mendoza, Nicole L. Hoppman, Ashley Kuhl, McKinsey L. Goodenberger
Publikováno v:
Clinical Case Reports, Vol 7, Iss 6, Pp 1154-1160 (2019)
Clinical Case Reports
Clinical Case Reports
We report a two‐generation family with four females harboring an 8.5Mb heterozygous deletion of 5q15‐q21.2 who present with dysmorphic craniofacial features and speech delay. We hypothesize haploinsufficiency of CHD1 to be contributing to the cli
Autor:
Bertrand Isidor, Sixto García-Miñaur, Julián Nevado, Pablo Lapunzina, Eric W. Klee, Cinthya J. Zepeda-Mendoza, Cédric Le Caignec, Patrick R. Blackburn, Guylène Le Meur, Dusica Babovic-Vuksanovic, Lisa A. Schimmenti, María Palomares, Teresa M. Kruisselbrink, María A. Mori
Publikováno v:
Eur J Hum Genet
Microphthalmia with brain and digital anomalies (MCOPS6, MIM# 607932) is an autosomal dominant disorder caused by loss-of-function variants or large deletions involving BMP4, which encodes bone morphogenetic protein 4, a member of the TGF-β protein