Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. by Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

“…Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. …”
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A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing by Huan Li, Liang Wang, Cheng Zhang

“…Furthermore, our findings highlight the importance of exome sequencing of the proband and parents and trio analyses in clinical settings, particularly when Mendelian inheritance cannot be confirmed, to identify the presence of UPD and to rule out large pathogenic deletions.…”
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Inherited risk for common disease by Banava, Helen

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Formation of pearl-necklace monomorphic G-quadruplexes in the human CEB25 minisatellite by Amrane, Samir, Adrian, Michael, Heddi, Brahim, Serero, Alexandre, Nicolas, Alain, Mergny, Jean-Louis, Phan, Anh Tuân

“…Genetically, most if not all individuals of the human population are heterozygous, carrying alleles ranging from 0.5 to 20 kb, maintained by mendelian inheritance but also subject to germline instability. …”
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The infinitesimal model: definition, derivation, and implications by Barton, N, Etheridge, A, Veber, A

“…We provide a mathematical justification of the model as the limit as the number M of underlying loci tends to infinity of a model with Mendelian inheritance, mutation and environmental noise, when the genetic component of the trait is purely additive. …”

The diagnostic approach to monogenic very early onset inflammatory bowel disease by Uhlig, H, Schwerd, T, Koletzko, S, Shah, N, Kammermeier, J, Elkadri, A, Ouahed, J, Wilson, D, Travis, S, Turner, D, Klein, C, Snapper, S, Muise, A

“…Defects in interleukin-10 signaling have a Mendelian inheritance pattern with complete penetrance of intestinal inflammation. …”

Segregation of rol Genes in Two Generations of Sinningia speciosa Engineered Through Wild Type Rhizobium rhizogenes by Siel Desmet, Siel Desmet, Emmy Dhooghe, Ellen De Keyser, Paul Quataert, Tom Eeckhaut, Johan Van Huylenbroeck, Danny Geelen

“…The progeny of reciprocal crosses showed non-Mendelian inheritance suggesting partial transmission of the of the aux and rol genes. …”
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Prevalence and resistance to gastrointestinal parasites in goats: A review by Takalani Judas Mpofu, Khathutshelo Agree Nephawe, Bohani Mtileni

“…Synergistic use of these indicators should be encouraged for a more accurate simplified genotype selection of resistant animals. Genes with Mendelian inheritance, particularly those involved in immunoregulatory mechanisms, have been identified in goats. …”
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The similarity of inherited diseases (I): clinical similarity within the phenotypic series by Alessio Gamba, Mario Salmona, Gianfranco Bazzoni

“…Among the datasets of similar diseases, we analyzed the ‘phenotypic series’ from Online Mendelian Inheritance in Man and examined the similarity of the diseases that belong to the same phenotypic series, because we hypothesize that clinical similarity may unveil shared pathogenic mechanisms. …”
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Comparison of sequencing based CNV discovery methods using monozygotic twin quartets. by Marc-André Legault, Simon Girard, Louis-Philippe Lemieux Perreault, Guy A Rouleau, Marie-Pierre Dubé

“…The use of monozygotic twins provides a means of estimating the error rate of each algorithm by observing CNVs that are inconsistently called when considering the rules of Mendelian inheritance and the assumption of an identical genome between twins. …”
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Assessing major genes allele frequencies and the genetic diversity of the native Aosta cattle female population by Francesca Bernini, Chiara Punturiero, Mario Vevey, Veruska Blanchet, Raffaella Milanesi, Andrea Delledonne, Alessandro Bagnato, Maria Giuseppina Strillacci

“…Allele frequencies of major genes highlight the possibility for selection for both milk and meat quality variants and that the Aosta cattle population is free from the known Mendelian inheritance diseases found in cosmopolitan breeds (e.g. …”
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Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report by Yuko Tamaki, Yukiko Katagiri, Nahomi Umemura, Naoki Takeshita, Mineto Morita

“…Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a rare chromosomal disorder that is seen in approximately 1 in every 180,000 live births. …”
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Intronic primers reveal unexpectedly high major histocompatibility complex diversity in Antarctic fur seals by Jonas Tebbe, Meinolf Ottensmann, Katja Havenstein, Artemis Efstratiou, Tobias L. Lenz, Barbara A. Caspers, Jaume Forcada, Ralph Tiedemann, Joseph I. Hoffman

“…The distribution of alleles within and among individuals was consistent with a single-copy, classical DQB locus showing Mendelian inheritance. Amino acid similarity at the MHC was significantly associated with genome-wide relatedness, but no relationship was found between MHC heterozygosity and genome-wide heterozygosity. …”
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Herança e desequilíbrio de ligação em locos de isoenzimas de Trema micrantha. Inheritance and linkage disequilibrium in isozymes loci of Trema micrantha. by Luciano Arruda RIBAS, Alexandre Magno SEBBENN

“…Foram detectados desequilíbrios de ligação significativos em cinco pares de locos: Acp-1:Acp-3, Acp-1:Idh-1, Dia-1:Mdh-1, Dia-2:Got-1 e Gdh-2:Got-1.Nine enzymes systems (ACP, DIA, EST, GDH, GOT, G6PDH, IDH, MDH and SKDH) coding for twelve polymorphic loci (Acp-1, Acp-2, Acp-3, Dia-1, Est-1, Gdh-2, Got-1, G6pdh-1, Idh-1, Mdh-1, Mdh-3 and Skdh-1) were investigated in Trema micrantha. Mendelian inheritance was confirmed for all loci by testing the fit of band-pattern segregation in progeny from heterozygous trees to expected 1:1 ratio. …”
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Molecular mechanism of Bushen Huatan Prescription in the treatment of Polycystic ovary syndrome based on network pharmacology and bioinformatics by Linhui Huang, Yu Huang, Qin Pang

“…First, the active ingredients and action targets of BHP were screened by retrieving the component data of the medicine in the following disease databases: Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform, Drug Bank, GeneCards, PCOS-related targets in Online Mendelian Inheritance in Man, PharmGKB, and UniProt. Next, the GEO database was searched for differently expressed targets. …”
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Linking human diseases to animal models using ontology-based phenotype annotation. by Nicole L Washington, Melissa A Haendel, Christopher J Mungall, Michael Ashburner, Monte Westerfield, Suzanna E Lewis

“…Using this EQ method, we annotated the phenotypes of 11 gene-linked human diseases described in Online Mendelian Inheritance in Man (OMIM). These human annotations were loaded into our Ontology-Based Database (OBD) along with other ontology-based phenotype descriptions of mutants from various model organism databases. …”
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Hypertrichosis associated with genetic conditions with head and neck alterations by Mirelle Estéfane de Oliveira Caixeta, Caroline Rodrigues Dias, Rafael Martins Afonso Pereira, Thiago de Amorim Carvalho, Ivania Aparecida Pimenta Santos Silva, Rodrigo Soares de Andrade

“…METHODS: The search was conducted in PubMed-NCBI databases; genetic conditions along with their characteristics were available in Online Mendelian Inheritance in Man (OMIM) and in Protein®. RESULTS: The analysis was performed on 63 articles and all diseases were considered as rare. …”
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Mendelian and non-Mendelian regulation of gene expression in maize. by Lin Li, Katherine Petsch, Rena Shimizu, Sanzhen Liu, Wayne Wenzhong Xu, Kai Ying, Jianming Yu, Michael J Scanlon, Patrick S Schnable, Marja C P Timmermans, Nathan M Springer, Gary J Muehlbauer

“…Besides genes showing Mendelian inheritance in the RIL population, we also found genes whose expression level and variation in the progeny could not be predicted based on parental difference, indicating that non-Mendelian factors also contribute to expression variation. …”
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Mechanism of quercetin therapeutic targets for Alzheimer disease and type 2 diabetes mellitus by Guoxiu Zu, Keyun Sun, Ling Li, Xiuli Zu, Tao Han, Hailiang Huang

“…In this study, potential molecular targets of quercetin were first identified using the Swiss Target Prediction platform and pathogenic targets of T2DM and AD were identified using online Mendelian inheritance in man (OMIM), DisGeNET, TTD, DrugBank, and GeneCards databases. …”
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The visualization of Orphadata neurology phenotypes by Daniel B. Hier, Daniel B. Hier, Raghu Yelugam, Michael D. Carrithers, Donald C. Wunsch

“…Large repositories of disease phenotypes are accessible through the Online Mendelian Inheritance of Man, Human Phenotype Ontology, and Orphadata initiatives. …”
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