Search Results - "Bale, Allen E"

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting by Ziganshin, Bulat A., MD, Bailey, Allison E., BS, Coons, Celinez, Dykas, Daniel, BS, Charilaou, Paris, MD, Tanriverdi, Lokman H, Liu, Lucy, BS, Tranquilli, Maryann, RN, Bale, Allen E., MD, Elefteriades, John A., MD

“…Background Hereditary factors play an important etiologic role in thoracic aortic aneurysm and dissection (TAAD), with a number of genes proven to predispose…”
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Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma by Wang, Nicholas J, Sanborn, Zachary, Arnett, Kelly L, Bayston, Laura J, Liao, Wilson, Proby, Charlotte M, Leigh, Irene M, Collisson, Eric A, Gordon, Patricia B, Jakkula, Lakshmi, Pennypacker, Sally, Zou, Yong, Sharma, Mimansa, North, Jeffrey P, Vemula, Swapna S, Mauro, Theodora M, Neuhaus, Isaac M, LeBoit, Philip E, Hur, Joe S, Park, Kyunghee, Huh, Nam, Kwok, Pui-Yan, Arron, Sarah T, Massion, Pierre P, Bale, Allen E, Haussler, David, Cleaver, James E, Gray, Joe W, Spellman, Paul T, South, Andrew P, Aster, Jon C, Blacklow, Stephen C, Cho, Raymond J

“…Squamous cell carcinomas (SCCs) are one of the most frequent forms of human malignancy, but, other than TP53 mutations, few causative somatic aberrations have…”
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Indoor tanning and risk of early-onset basal cell carcinoma by Ferrucci, Leah M., PhD, Cartmel, Brenda, PhD, Molinaro, Annette M., PhD, Leffell, David J., MD, Bale, Allen E., MD, Mayne, Susan T., PhD

“…Background Despite an increase in incidence of basal cell carcinoma (BCC) among young people and the ubiquity of indoor tanning in this population, few…”
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Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults by Seidelmann, Sara B, Smith, Emily, Subrahmanyan, Lakshman, Dykas, Daniel, Abou Ziki, Maen D, Azari, Bani, Hannah-Shmouni, Fady, Jiang, Yuexin, Akar, Joseph G, Marieb, Mark, Jacoby, Daniel, Bale, Allen E, Lifton, Richard P, Mani, Arya

“…BACKGROUND—With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of…”
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Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene by Yamaguchi, Saori, Brailey, Lisa L., Morizono, Hiroki, Bale, Allen E., Tuchman, Mendel

“…Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X‐linked trait. Defects in the OTC…”
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Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused by Cooper, Ayanna F, Yu, Kuan Ping, Brueckner, Martina, Brailey, Lisa L, Johnson, Linda, McGrath, James M, Bale, Allen E

“…The hedgehog (Hh) pathway is conserved from Drosophila to humans and plays a key role in embryonic development. In addition, activation of the pathway in…”
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Mitochondrial Membrane Protein–Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis by Kim, Jiyeon, MD, PhD, Liao, Yu-Hsien, PhD, Ionita, Cristian, MD, Bale, Allen E., MD, Darras, Basil, MD, Acsadi, Gyula, MD, PhD

“…Abstract Background Mitochondrial membrane protein associated neurodegeneration (MPAN) is the third most common subtype of neurodegeneration with brain iron…”
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Host Phenotype Characteristics and MC1R in Relation to Early-Onset Basal Cell Carcinoma by Ferrucci, Leah M., Cartmel, Brenda, Molinaro, Annette M., Gordon, Patricia B., Leffell, David J., Bale, Allen E., Mayne, Susan T.

“…Basal cell carcinoma (BCC) incidence is increasing, particularly among adults under the age of 40 years. Pigment-related characteristics are associated with…”
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Lifetime history of indoor tanning in young people: a retrospective assessment of initiation, persistence, and correlates by Lostritto, Karen, Ferrucci, Leah M, Cartmel, Brenda, Leffell, David J, Molinaro, Annette M, Bale, Allen E, Mayne, Susan T

“…Despite educational and public health campaigns to convey the risks of indoor tanning, many individuals around the world continue to engage in this behavior…”
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Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status by Haffty, Bruce G, Harrold, Elizabeth, Khan, Atif J, Pathare, Pradip, Smith, Tanya E, Turner, Bruce C, Glazer, Peter M, Ward, Barbara, Carter, Daryl, Matloff, Ellen, Bale, Allen E, Alvarez-Franco, Mayra

“…Management of early-stage breast cancer in young women with mutations in BRCA1 or BRCA2 remains controversial. This study assessed the long-term risks of…”
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Whole-exome sequencing in evaluation of patients with venous thromboembolism by Lee, Eun-Ju, Dykas, Daniel J., Leavitt, Andrew D., Camire, Rodney M., Ebberink, Eduard, García de Frutos, Pablo, Gnanasambandan, Kavitha, Gu, Sean X., Huntington, James A., Lentz, Steven R., Mertens, Koen, Parish, Christopher R., Rezaie, Alireza R., Sayeski, Peter P., Cromwell, Caroline, Bar, Noffar, Halene, Stephanie, Neparidze, Natalia, Parker, Terri L., Burns, Adrienne J., Dumont, Anne, Yao, Xiaopan, Chaar, Cassius Iyad Ochoa, Connors, Jean M., Bale, Allen E., Lee, Alfred Ian

“…Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia…”
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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors by Deignan, Joshua L., Aggarwal, Vimla, Bale, Allen E., Bellissimo, Daniel B., Booker, Jessica K., Cao, Yang, Crooks, Kristy R., Deak, Kristen L., Del Gaudio, Daniela, Funke, Birgit, Hoppman, Nicole L., Horner, Vanessa, Hufnagel, Robert B., Jackson-Cook, Colleen, Koduru, Prasad, Leung, Marco L., Li, Shibo, Liu, Pengfei, Luo, Minjie, Mao, Rong, Mason-Suares, Heather, Mikhail, Fady M., Moore, Stephen R., Naeem, Rizwan C., Pollard, Laura M., Repnikova, Elena A., Shao, Lina, Shaw, Brandon M., Shetty, Shashirekha, Smolarek, Teresa A., Spiteri, Elizabeth, Van Ziffle, Jessica, Vance, Gail H., Vnencak-Jones, Cindy L., Williams, Eli S.

“…The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches…”
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PGR +331 A/G and Increased Risk of Epithelial Ovarian Cancer by RISCH, Harvey A, BALE, Allen E, BECK, Patricia A, WENXIN ZHENG

“…Childbearing and use of oral contraceptives are known to lower the risk of ovarian cancer, and it has been suggested that progesterone or progestin exposures…”
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HEDGEHOG SIGNALING AND HUMAN DISEASE by Bale, Allen E

“…Developmental pathways first elucidated by genetic studies in the fruit fly Drosophila melanogaster are conserved in vertebrates. The hedgehog pathway, first…”
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Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients by DOO HO CHOI, MIN HYUK LEE, BALE, Allen E, CARTER, Darryl, HAFFTY, Bruce G

“…The prevalence of BRCA-associated breast carcinoma in the Korean population has not been evaluated extensively. Sixty Korean women who developed breast cancer…”
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Systemic glucocorticoid use and early-onset basal cell carcinoma by Troche, Jose Ramon, MPH, Ferrucci, Leah M., PhD, MPH, Cartmel, Brenda, PhD, Leffell, David J., MD, Bale, Allen E., MD, Mayne, Susan T., PhD

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Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice by Chung, David H., Zheng, Melanie, Bale, Allen E., Vilarinho, Sílvia

“…In the last decade, the utility of whole-exome sequencing in uncovering genetic aetiologies of a variety of liver diseases has been demonstrated. These new…”
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978-P: Rare Variants in Melanocortin 4 Receptor Gene (MC4R) Are Associated with Increased Visceral Fat and Altered Glucose Metabolism Independent of the Effect of Obesity in Children by GALUPPO, BRITTANY, MANNAM, PRABHATH, TRICO, DOMENICO, BALE, ALLEN E., CAPRIO, SONIA, SANTORO, NICOLA

“…Melanocortin 4 receptor gene (MC4R) mutations result in early-onset obesity, but it is unclear how they affect abdominal fat distribution, intrahepatic fat,…”
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Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome by Hahn, Heidi, Wicking, Carol, Zaphiropoulos, Peter G, Gailani, Mae R, Shanley, Susan, Chidambaram, Abirami, Vorechovsky, Igor, Holmberg, Erika, Unden, Anne Birgitte, Gillies, Susan, Negus, Kylie, Smyth, Ian, Pressman, Carolyn, Leffell, David J, Gerrard, Bernard, Goldstein, Alisa M, Dean, Michael, Toftgard, Rune, Chenevix-Trench, Georgia, Wainwright, Brandon, Bale, Allen E

“…The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms…”
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Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study by Goffredo, Martina, Caprio, Sonia, Feldstein, Ariel E., D'Adamo, Ebe, Shaw, Melissa M., Pierpont, Bridget, Savoye, Mary, Zhao, Hongyu, Bale, Allen E., Santoro, Nicola

“…We assessed the association between the single‐nucleotide polymorphism (SNP) rs58542926 in the transmembrane 6 superfamily member 2 (TM6SF2) gene and fatty…”
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