Search Results - "genetic testing"

Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care by Shilpa A. Shahani, Erin L. Marcotte, Erin L. Marcotte

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Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young? by Sarah E. Podwika, Taylor M. Jenkins, Joyti K. Khokhar, Sarah H. Erickson, Susan C. Modesitt

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Congenital Surfactant C Deficiency with Pulmonary Hypertension-A Case Report by Wei Chard Chua, I-Chen Chen, Yi-Ching Liu, Yen-Hsien Wu, Shih-Hsing Lo, Jong-Hau Hsu, Peir-In Liang, Hsiu-Lin Chen, Zen-Kong Dai

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Fully penetrant genetic mutation results in wide familial variability: a cardiac magnetic resonance focused report by Maria Livia Iovanescu, Andreea Sorina Marcu, Cristian Militaru, Octavian Istratoaie, Ioana Gheonea, Sebastian Militaru

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Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants by Adelyn Beil, Whitney Hornsby, Wendy R. Uhlmann, Rajani Aatre, Patricia Arscott, Brooke Wolford, Kim A. Eagle, Bo Yang, Jennifer McNamara, Cristen Willer, J. Scott Roberts

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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan by Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara

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Clinical characteristics and genetic analysis of A20 haploinsufficiency by Dan Zhang, Gaixiu Su, Zhixuan Zhou, Jianming Lai

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How a woman's myomectomy saved her father's life: evidence of fumarate hydratase-deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase by Greysha Rivera-Cruz, M.D, Baris Boyraz, M.D., Ph.D, John C. Petrozza, M.D

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Effects of initiating physician-performed germline testing in safety net clinic patients with epithelial ovarian cancer by Scott E. Jordan, Samantha Spring, Priyanka Kamath, Matthew P. Schlumbrecht, J. Matthew Pearson, Abdulrahman K. Sinno, Sophia H.L. George, Marilyn Huang

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<i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case by Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova

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Screening for BRCA1 and BRCA2 mutations in breast cancer patients from mexico: the public health perspective Tamizaje de BRCA1 y BRCA2 en pacientes con cáncerde mama en méxico: p... by Steven A Narod

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Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis by Muhammad Danyal Ahsan, Sarah R. Levi, Emily M. Webster, Hannah Bergeron, Jenny Lin, Priyanka Narayan, Becky Baltich Nelson, Xuan Li, Rana K. Fowlkes, Jesse T. Brewer, Charlene Thomas, Paul J. Christos, Eloise Chapman-Davis, Evelyn Cantillo, Kevin Holcomb, Ravi N. Sharaf, Melissa K. Frey

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Prenatal diagnosis in dermatology by Manjyot Gautam, Faaria Ali

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Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family by Heather M. Lucas, Mojirayo A. Sarumi

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Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings by Kasra Zarei, John A. Bernat, Yutaka Sato, Rachel Segal, Guru Bhoojhawon

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Need for preventive diagnostics in patients with family history of Gorlin-Goltz syndrome (GGS) by Agnieszka Adamska, Adrianna Woźniak, Jacek Skoczylas, Paweł Zawadzki

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Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review by Yongbing Guo, Huijing Zhang, Lixin Fan, Junya Chen, Xiaoxiao Zhang, Huixia Yang, Yu Sun

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Still using genetic data? A comparative review of Canadian life insurance application forms before and after the GNDA by Amy Fernando, Emma Kondrup, Katherine Cheung, Diya Uberoi, Yann Joly

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Newborn screening for genetic disorders: Current status and prospects for the future by Si Ding, Lianshu Han

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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East by Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Walaa Alshuaibi, Hicham Mansour, Annemieke Aartsma-Rus, André Mégarbané

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