Embryo selection through non-invasive preimplantation genetic testing with cell-free DNA in spent culture media: a protocol for a multicentre, double-blind, randomised controlled trial by Jie Qiao, Yan Wang, Rong Li, Ping Liu, Liang Hu, Lin Zeng, Guimin Hao, Jin Huang, Bing Yao, Junzhao Zhao, Juanzi Shi, Liyi Cai, Xiu-Xia Wang, Yanwen Xu, Yuanqing Yao, Yichun Guan, Weiping Qian, Sijia Lu

“…However, it does not fully reflect the implantation potential. Preimplantation genetic testing for aneuploidies (PGT-A) can detect embryonic aneuploidy, but biopsy procedure is invasive. …”
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Risk factors associated with pregnancy loss after single euploid blastocysts transfer by Xiaohui Dong, Juanzi Shi, Xiaohua Liu, Danmeng Liu, Wei Li, Xiaoli Zhao, Xia Xue

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Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach by Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop

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The role of the patients register in early diagnostics of familial adenomatosis coli by A. M. Kuzminov, A. V. Karpuhin, Yu. Yu. Chubarov, I. Yu. Sachkov, T. A. Savel’yeva

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Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon by A. M. Kuzminov, A. V. Karpukhin, I. Yu. Sachkov, Yu. Yu. Chubarov, T. A. Savel’yeva

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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

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Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey by Emil Vilstrup Moen, Thomas Skovhus Prior, Michael Kreuter, Wim A. Wuyts, Maria Molina-Molina, Marlies Wijsenbeek, Antonió Morais, Argyrios Tzouvelekis, Christopher J. Ryerson, Fabian Caro, Ivette Buendia-Roldan, Jesper M. Magnusson, Joyce S. Lee, Julie Morisett, Justin M. Oldham, Lauren K. Troy, Manuela Funke-Chambour, Maria Laura Alberti, Raphael Borie, Simon L. F. Walsh, Sujeet Rajan, Yasuhiro Kondoh, Yet H Khor, Elisabeth Bendstrup

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Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report by Lama Khudari, Marwan Halabi, Sahar Al Fahoum

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Pitfalls in clinical genetics by Hui-Lin Chin, Denise Li Meng Goh

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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

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Prolonged Honeymoon Phase in Adult-Onset Type 1 Diabetes Mellitus: A Case Study by Pranjali Shah

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Resistance of spring bread wheat cultivars and lines to Septoria leaf blotch, tan spot, and spot blotch pathogens by Yu. V. Zeleneva, V. P. Sudnikovа, N. M. Kovalenkо, I. V. Gusev

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Social vulnerability and genetic service utilization among unaffected BRIDGE trial patients with inherited cancer susceptibility by Jemar R. Bather, Melody S. Goodman, Adrian Harris, Guilherme Del Fiol, Rachel Hess, David W. Wetter, Daniel Chavez-Yenter, Lingzi Zhong, Lauren Kaiser-Jackson, Rachelle Chambers, Richard Bradshaw, Wendy Kohlmann, Sarah Colonna, Whitney Espinel, Rachel Monahan, Saundra S. Buys, Ophira Ginsburg, Kensaku Kawamoto, Kimberly A. Kaphingst, on behalf of the BRIDGE research team

“…Abstract Background Research on social determinants of genetic testing uptake is limited, particularly among unaffected patients with inherited cancer susceptibility. …”
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Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy by Dominic B. Fee

“…Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of his age of onset, lack of family history, and benign appearing muscle biopsy. …”
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When to Consider a Diagnosis of Maturity-Onset Diabetes of the Young: Precise Diagnosis Leads to Better Management and Quality of Life for the Patients by Yujia Gao, Kalyan Mansukhbhai Shekhda, Sarah N. Ali

“…Her genetic testing confirmed GCK-MODY (Glucokinae-maturity-onset diabetes of the young). …”
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Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration by Natalie Diaz

“…As the radiographic findings are quite characteristic, genetic testing should be performed if the MRI shows evidence of iron accumulation. …”
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Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant by Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi

“…The patient exhibited progressive myocardial fibrosis, left ventricular remodeling, and life-threatening arrhythmias. Genetic testing within families is useful for risk stratification in pediatric HCM patients.…”
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Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report by Abdul Muhsen Abdeen MD, Jowan Al-Nusair MD, Malik Samardali MD, Mohamed Alshal MD, Amro Al-Astal MD, Zeid Khitan MD

“…Renal biopsy revealed classic TMA features, and genetic testing identified the MCP mutation, underscoring the importance of genetic predispositions in guiding diagnosis and therapy. …”
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Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings by Martin Barnes, Victoria Shklar, Dipen Patel, Harry Staszewski

“…The bone marrow biopsy performed on our patient illustrates that the presence of dysplasia does not rule out hereditary PHA and further genetic testing should be done in the appropriate clinical scenario. …”
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