Genetic Alterations in Presumptive Precursor Lesions of Breast Carcinomas by Michaela Aubele, Martin Werner, Heinz Höfler

“…Cytogenetic and molecular‐genetic analysis of these lesions give evidence for an accumulation of various genetic alterations during breast tumorigenesis. …”
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Multi-block Analysis of Genomic Data Using Generalized Canonical Correlation Analysis by Inyoung Jun, Wooree Choi, Mira Park

“…Recently, there have been many studies in medicine related to genetic analysis. Many genetic studies have been performed to find genes associated with complex diseases. …”
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Hypogonadotropic Hypogonadism Associated with Hereditary Hemorrhagic Telengiectasia by Scarano Valentina, De Santis Daniele, Suppressa Patrizia, Lastella Patrizia, Lenato Gennaro Mariano, Triggiani Vincenzo, Sabbà Carlo

“…A definite diagnosis of hereditary hemorrhagic telangiectasia was made based on clinical criteria and confirmed by genetic analysis.…”
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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing by Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

“…Abstract We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. …”
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Seasonal Variations in the Structure and Function of the Gut Flora in Adult Male Rhesus Macaques Reared in Outdoor Colonies by Longbao Lv, Feiyan Zhang, Haimei Zhou, Wenxian Xiao, Yingzhou Hu, Wenchao Wang, Zhu Zhu, Fangming Zhu, Dongdong Qin, Xintian Hu

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The Transmission Disequilibrium/Heterogeneity Test with Parental-Genotype Reconstruction for Refined Genetic Mapping of Complex Diseases by Jing Han, Yongzhao Shao

“…An application of this proposed method to Genetic Analysis Workshop 14 (GAW14) data sets and extensive simulation studies suggest that this approach may further increase statistical power which is particularly valuable when LD is unknown and/or when some or all PMGs are not available.…”
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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa by A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker

“…Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. …”
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Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“…To confirm the diagnosis of PCH2A, genetic analysis is required detecting homozygous missense mutation in the TSEN54 gene. …”
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Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation? by Lisa Giovannini, Carlo Donadio

“…Case Presentation. 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m2) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. …”
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Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? by Jean-François Viallard, Marie Parrens, Frédéric Rieux-Laucat

“…We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency–associated genes (FAS-ligand (FASL) gene (p.G167R); perforin-1 (PRF1 (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (BLM) gene and the Moesin (MSN) (p.A122T) gene). …”
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A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections by Marjolein A. C. Mattheij, Ellen J. H. Schatorjé, Eugenie F. A. Gemen, Lisette van de Corput, Peet T. G. A. Nooijen, Mirjam van der Burg, Esther de Vries

“…Her symptoms partly fit the definitions of both autoimmune lymphoproliferative syndrome (ALPS) and common variable immunodeficiency disorders (CVIDs). Genetic analysis showed no abnormalities in the ALPS-genes FAS, FASLG, and CASP10. …”
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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. …”
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Challenges and considerations of genetic testing in von Willebrand disease by Omid Seidizadeh, Luciano Baronciani, Flora Peyvandi

“…With the introduction of next-generation sequencing, genetic analysis of the VWF has become more practical than it was in the past, when Sanger sequencing was used. …”
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A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade by Jawad Al-Khafaji, Fran Ganz-Lord, Venkata Rajesh Konjeti, Aaron D. Viny

“…In this report, we present a patient with late-onset FMF with extensive lymphadenopathy in all of the aforementioned anatomic regions. Genetic analysis identified three heterozygous pyrin mutations in a patient with no affected family members. …”
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De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura by Ibrahim Alharbi, Sarah Alqarni, Wed Khayyat, Amirah Almatrafi

“…Histopathological analysis revealed gastric perforation with features of ischemic insult. On day 8, genetic analysis confirmed the diagnosis of autosomal recessive familial thrombotic thrombocytopenic purpura and revealed a unique homozygous deletion mutation on exon 23 of ADAMTS13: c.2883del p.…”
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Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes by Mark Johnson, Craig Richard, Renee Bogdan, Robert Kidd

“…A 74-year-old white female with atrial fibrillation was initiated on a warfarin dose of 2 mg PO daily, which resulted in multiple elevated INR measurements and three clinically significant hemorrhagic events and four vitamin K antidote treatments over a period of less than two weeks. Genetic analysis later revealed that she had the homozygous variant genotypes of CYP2C9*3*3 and VKORC1-1639 AA. …”
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Acute Myeloid Leukemia with Basophilic Differentiation Transformed from Myelodysplastic Syndrome by Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato

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Demographic and historical processes influencing Cochliomyia hominivorax (Diptera: Calliphoridae) population structure across South America by Kelly da Silva e Souza, Letícia Chiara Baldassio de Paula, Ana Maria Lima de Azeredo-Espin, Tatiana Teixeira Torres

“…Results Contrary to our initial hypothesis, the results revealed consistent genetic variability across the species’ distribution, low population differentiation, and no evidence of isolation-by-distance patterns among subpopulations. The genetic analysis indicated an excess of homozygotes, potentially due to the Wahlund effect, null alleles, or selection pressure. …”
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Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report by Yunxi Li, Ruijuan Li, Yanyan Pan, Weiran Zhou, Xingcui Wang, Linlin Dong, Xuemei Liu, Hongxia Zhang

“…This case suggests that if zymogen activation testing is not possible, genetic analysis may be an effective tool to facilitate early diagnosis. …”
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Parentage Verification and Segregation Distortion Patterns of Microsatellite Markers in Olive Flounder (<i>Paralichthys olivaceus</i>) Full-Sib Families by Songhyun Gwon, Eunjeong Kim, Wonse Lee, Jisung Han, Yoonkwon Nam

“…Microsatellite markers are widely used in aquaculture for genetic analysis and breeding programs, but challenges such as segregation distortion and allelic instability can impact their effectiveness in parentage verification and inheritance studies. …”
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