Search Results - "Batista, Denise A S"

Tumor-Infiltrating Macrophages in Post-Transplant, Relapsed Classical Hodgkin Lymphoma Are Donor-Derived by Crane, Genevieve M, Samols, Mark A, Morsberger, Laura A, Yonescu, Raluca, Thiess, Michele L, Batista, Denise A S, Ning, Yi, Burns, Kathleen H, Vuica-Ross, Milena, Borowitz, Michael J, Gocke, Christopher D, Ambinder, Richard F, Duffield, Amy S

“…Tumor-associated inflammatory cells in classical Hodgkin lymphoma (CHL) typically outnumber the neoplastic Hodgkin/Reed-Sternberg (H/RS) cells. The composition…”
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Cytopathologic features of mammary analogue secretory carcinoma by Bishop, Justin A., Yonescu, Raluca, Batista, Denise A. S., Westra, William H., Ali, Syed Z.

“…BACKGROUND Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland neoplasm that is defined by ETV6‐NTRK3 gene fusion. To the best…”
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The impact of chromosomal microarray on clinical management: a retrospective analysis by Henderson, Lindsay B., Applegate, Carolyn D., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie, Batista, Denise A.S.

“…Purpose: Chromosomal microarray has been widely adopted as the first-tier clinical test for individuals with multiple congenital anomalies, developmental…”
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Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot by Weiss, Karin, Applegate, Carolyn, Wang, Tao, Batista, Denise A. S.

“…Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2–10 Mbs…”
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Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings by Vernon, Hilary J, McClellan, Rebecca, Batista, Denise AS, Naidu, Sakkubai

“…Recently, mutations in FARS2, which encodes for mitochondrial phenylalanyl–tRNA synthetase, have been implicated in autosomal recessive combined oxidative…”
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3q29 interstitial microduplication: A new syndrome in a three-generation family by Lisi, Emily C., Hamosh, Ada, Doheny, Kimberly F., Squibb, Elizabeth, Jackson, Barbara, Galczynski, Rebecca, Thomas, George H., Batista, Denise A.S.

“…Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high‐resolution…”
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3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition by Li, Feng, Lisi, Emily C, Wohler, Elizabeth S, Hamosh, Ada, Batista, Denise A.S

“…Abstract An inherited, interstitial subtelomere deletion of approximately 1.3–1.4 Mb at 3q29 was identified in a patient and his father utilizing BAC array…”
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Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: Search for recurrent chromosome abnormalities by Batista, Denise A S., Vonderheid, Eric C., Hawkins, Anita, Morsberger, Laura, Long, Patricia, Murphy, Kathleen M., Griffin, Constance A.

“…Cutaneous T‐cell lymphoma (CTCL) is a clonally derived lymphoproliferative disorder that preferentially involves the skin. The two major clinical expressions…”
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The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome by Applegate, Carolyn, Batista, Denise A. S., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie

“…Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and…”
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Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development by Mardo, Veronica, Squibb, Elizabeth E., Braverman, Nancy, Hoover-Fong, Julie E., Migeon, Claude, Batista, Denise A.S., Thomas, George H.

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes by Shenje, Lincoln T., Andersen, Peter, Halushka, Marc K., Lui, Cecillia, Fernandez, Laviel, Collin, Gayle B., Amat-Alarcon, Nuria, Meschino, Wendy, Cutz, Ernest, Chang, Kenneth, Yonescu, Raluca, Batista, Denise A. S., Chen, Yan, Chelko, Stephen, Crosson, Jane E., Scheel, Janet, Vricella, Luca, Craig, Brian D., Marosy, Beth A., Mohr, David W., Hetrick, Kurt N., Romm, Jane M., Scott, Alan F., Valle, David, Naggert, Jürgen K., Kwon, Chulan, Doheny, Kimberly F., Judge, Daniel P.

“…Cardiomyocyte cell division and replication in mammals proceed through embryonic development and abruptly decline soon after birth. The process governing…”
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Sacrococcygeal teratomas: clinico-pathological characteristics and isochromosome 12p status by Gurda, Grzegorz T, VandenBussche, Christopher J, Yonescu, Raluca, Gonzalez-Roibon, Nilda, Ellis, Carla L, Batista, Denise A S, Netto, George J

“…The biological behavior of teratomas is highly variable, and morphologic features alone are insufficient to predict their clinical course. Prognostic factors…”
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First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 by Henderson, Lindsay B., Corson, Virginia L., Saul, Daniel O., Anderson, Cynthia, Millard, Sarah, Batista, Denise A. S., Blakemore, Karin J., DeScipio, Cheryl

“…Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12…”
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Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion by Saadeh, Reem, MD, Lisi, Emily C., MS, Batista, Denise A.S., PhD, McIntosh, Iain, PhD, Hoover-Fong, Julie E., MD

“…We report on a 17-month-old African girl with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech,…”
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Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants by Gottschalk, Laura B, Vecchio-Pagan, Briana, Sharma, Neeraj, Han, Sangwoo T, Franca, Arianna, Wohler, Elizabeth S, Batista, Denise A.S, Goff, Loyal A, Cutting, Garry R

“…Abstract Background Analysis of the functional consequences and treatment response of rare CFTR variants is challenging due to the limited availability of…”
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Genetic Profiling by Single-Nucleotide Polymorphism-Based Array Analysis Defines Three Distinct Subtypes of Orbital Meningioma by Ho, Cheng-Ying, Mosier, Stacy, Safneck, Janice, Salomao, Diva R., Miller, Neil R., Eberhart, Charles G., Gocke, Christopher D., Batista, Denise A. S., Rodriguez, Fausto J.

“…Orbital meningiomas can be classified as primary optic nerve sheath (ON) meningiomas, primary intraorbital ectopic (Ob) meningiomas and spheno‐orbital (Sph‐Ob)…”
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Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis by Harada, Shuko, Henderson, Lindsay B, Eshleman, James R, Gocke, Christopher D, Burger, Peter, Griffin, Constance A, Batista, Denise A S

“…Deletion or loss of heterozygosity (LOH) in chromosomes 1p and 19q in oligodendrogliomas (ODGs) have diagnostic, prognostic, and therapeutic implications…”
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Mosaic trisomy 13: understanding origin using SNP array by Jinawath, Natini, Zambrano, Regina, Wohler, Elizabeth, Palmquist, Maria K, Hoover-Fong, Julie, Hamosh, Ada, Batista, Denise A S

“…Trisomy 13 occurs in 1/10,000-20,000 live births, and mosaicism accounts for 5% of these cases. Phenotype and outcome of mosaic trisomy 13 are variable and…”
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Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? by Li, Feng, Shen, Yiping, Köhler, Udo, Sharkey, Freddie H, Menon, Deepa, Coulleaux, Laurence, Malan, Valérie, Rio, Marlène, McMullan, Dominic J, Cox, H, Fagan, Kerry A, Gaunt, Lorraine, Metcalfe, Kay, Heinrich, Uwe, Hislop, Gordon, Maye, Una, Sutcliffe, Maxine, Wu, Bai-Lin, Thiel, Brian D, Mulchandani, Surabhi, Conlin, Laura K, Spinner, Nancy B, Murphy, Kathleen M, Batista, Denise A.S

“…Abstract The use of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays has dramatically altered the approach to…”
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An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism by Li, Feng, Batista, Denise A.S., Maumenee, Irene, Wang, Tao

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