To see the other types of publications on this topic, follow the link: Oligogene.

Journal articles on the topic 'Oligogene'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Oligogene.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Hadden, T. J., and A. Sodja. "An Oligogene Family Encodes Actins in the Housefly, Musca domestica." Biochemical and Biophysical Research Communications 203, no. 1 (1994): 523–31. http://dx.doi.org/10.1006/bbrc.1994.2214.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Hohmann, Margarete, Renate Schmelz, Jochen Hampe, and Sebastian Zeißig. "Sinnvolle genetische Untersuchungen in der Gastroenterologie." DMW - Deutsche Medizinische Wochenschrift 143, no. 20 (2018): 1477–80. http://dx.doi.org/10.1055/a-0588-1684.

Full text
Abstract:
Was ist neu? Hereditäre Pankreatitis In den letzten Jahren konnten mehrere Genmutationen nachgewiesen werden, die ursächlich für die Ausbildung einer hereditären Pankreatitis sind. Sie spielen auch bei der Entstehung einer chronischen Pankreatitis anderer Ätiologie eine wichtige Rolle, wobei Lebensstilfaktoren hierbei in den Vordergrund treten. Chronisch entzündliche Darmerkrankungen Das Wissen um die komplexe und multifaktorielle Ätiologie des Morbus Crohn und der Colitis ulcerosa wurde in den letzten Jahren durch die Identifikation von bislang über 200 Risikogenvarianten erweitert. Diese tra
APA, Harvard, Vancouver, ISO, and other styles
3

Rohrschneider, Klaus, and Hanno Jörn Bolz. "Bardet-Biedl-Syndrom – Diagnose und klinischer Verlauf." Klinische Monatsblätter für Augenheilkunde 237, no. 03 (2020): 239–47. http://dx.doi.org/10.1055/a-1118-3748.

Full text
Abstract:
ZusammenfassungDas Bardet-Biedl-Syndrom (BBS) ist eine seltene, erblich bedingte Ziliopathie, bei der neben einer Netzhautdystrophie, meist in Form einer Stäbchen-Zapfen-Dystrophie (Retinitis pigmentosa, RP), zahlreiche weitere Symptome bestehen, vor allem Stammfettsucht, Polydaktylie, Nierenveränderungen und Lernbehinderung bzw. Intelligenzminderung. Mindestens 25 ursächliche Gene, die für Proteine mit wichtiger Rolle bei Entwicklung und Funktion primärer Zilien kodieren, sind bisher bekannt. Die Störung der mit zahlreichen Entwicklungssignalwegen assoziierten Zilien erklärt die in unterschie
APA, Harvard, Vancouver, ISO, and other styles
4

Marwood, M., K. Visser, L. A. Salamonsen, and E. Dimitriadis. "Interleukin-11 and Leukemia Inhibitory Factor Regulate the Adhesion of Endometrial Epithelial Cells: Implications in Fertility Regulation." Endocrinology 150, no. 6 (2009): 2915–23. http://dx.doi.org/10.1210/en.2008-1538.

Full text
Abstract:
Embryo implantation requires the closely harmonized processes of apposition, attachment, and adhesion of the conceptus to the maternal endometrial epithelium. IL-11 and leukemia inhibitory factor (LIF), two IL-6 family cytokines, are produced by the endometrium and are absolutely required for implantation in mice. We examined the effect of IL-11 and LIF on human endometrial epithelial cell adhesion. Both cytokines increased adhesion of primary human endometrial epithelial cells to fibronectin and collagen IV. IL-11 stimulated, whereas LIF had no effect on the adhesion of trophoblast to endomet
APA, Harvard, Vancouver, ISO, and other styles
5

Keogh, Michael J., Wei Wei, Juvid Aryaman, et al. "Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 8 (2018): 813–16. http://dx.doi.org/10.1136/jnnp-2017-317234.

Full text
Abstract:
BackgroundSeveral studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series.MethodsWe analysed 980 neuropathologically characterised human brains with Alzheimer’s disease (AD), Parkinson’s disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls. Genetic variants were assessed using the American College of Medical
APA, Harvard, Vancouver, ISO, and other styles
6

Longo, Luca, Gian Paolo Tonini, Isabella Ceccherini, and Patrizia Perri. "Oligogenic inheritance in neuroblastoma." Cancer Letters 228, no. 1-2 (2005): 65–69. http://dx.doi.org/10.1016/j.canlet.2004.12.052.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

ZHANG, W., A. COLLINS, G. R. ABECASIS, L. R. CARDON, and N. E. MORTON. "Mapping quantitative effects of oligogenes by allelic association." Annals of Human Genetics 66, no. 3 (2002): 211–21. http://dx.doi.org/10.1046/j.1469-1809.2002.00111.x.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Kousi, M., and N. Katsanis. "Genetic Modifiers and Oligogenic Inheritance." Cold Spring Harbor Perspectives in Medicine 5, no. 6 (2015): a017145. http://dx.doi.org/10.1101/cshperspect.a017145.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Kuuluvainen, Liina, Karri Kaivola, Saana Mönkäre, et al. "Oligogenic basis of sporadic ALS." Neurology Genetics 5, no. 3 (2019): e335. http://dx.doi.org/10.1212/nxg.0000000000000335.

Full text
Abstract:
ObjectiveTo characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (SOD1) p.Ala90Val mutation, as well as the mutation frequency and the role of oligogenic mechanisms in disease penetrance.MethodsAn index patient with autopsy-proven ALS was discovered to have the SOD1 p.Ala90Val mutation, which was screened in 2 Finnish ALS cohorts (n = 453). Additional contributing variants were analyzed from whole-genome or whole-exome sequencing data.ResultsSeven screened patients (1.5%) were found to carry the SOD1 heteroz
APA, Harvard, Vancouver, ISO, and other styles
10

Bell, G. "The Oligogenic View of Adaptation." Cold Spring Harbor Symposia on Quantitative Biology 74 (January 1, 2009): 139–44. http://dx.doi.org/10.1101/sqb.2009.74.003.

Full text
APA, Harvard, Vancouver, ISO, and other styles
11

Agarwal, Sarita, and Nikhil Moorchung. "Modifier Genes and Oligogenic Disease." Journal of Nippon Medical School 72, no. 6 (2005): 326–34. http://dx.doi.org/10.1272/jnms.72.326.

Full text
APA, Harvard, Vancouver, ISO, and other styles
12

O'Connell, Jeffrey R., Sean Davis, and Daniel E. Weeks. "Analysis of complex oligogenic disease." Genetic Epidemiology 14, no. 6 (1997): 861–66. http://dx.doi.org/10.1002/(sici)1098-2272(1997)14:6<861::aid-gepi50>3.0.co;2-k.

Full text
APA, Harvard, Vancouver, ISO, and other styles
13

Gioeva, Olesya A., Natalya A. Zubkova, Yulia V. Tikhonovich, et al. "Clinical and molecular genetic characteristics of MODY cases with digenic and oligogenic inheritance as defined by targeted next-generation sequencing." Problems of Endocrinology 62, no. 6 (2017): 20–27. http://dx.doi.org/10.14341/probl201662620-27.

Full text
Abstract:
The diagnosis of MODY should be verified by molecular genetic analysis. Recently the introduction of next-generation sequencing, allowing simultaneous analysis of several candidate genes, greatly facilitates the diagnosis of monogenic diseases including MODY. In addition, the simultaneous analysis of several candidate genes allows to identify cases with digenic and oligogenic inheritance. In this work we present the first description of MODY cases with digenic and oligogenic inheritance in our country.Aim — to characterize MODY cases with digenic and oligogenic inheritance as defined by target
APA, Harvard, Vancouver, ISO, and other styles
14

Salava, J., J. Polák, and B. Krška. "Oligogenic Inheritance of Resistance to Plum Pox Virus in Apricots." Czech Journal of Genetics and Plant Breeding 41, No. 4 (2011): 167–70. http://dx.doi.org/10.17221/3663-cjgpb.

Full text
Abstract:
In order to determine the inheritance of resistance to PPV in apricot three crosses between resistant and susceptible cultivars and selections were performed. The B&lt;sub&gt;1&lt;/sub&gt; seedlings were inoculated with the PPV-M strain by an infected bud. PPV infection was evaluated over 5 consecutive growth periods through visual symptoms, ELISA and in some cases reverse transcriptase PCR assays. Chi-square analysis of each B&lt;sub&gt;1&lt;/sub&gt; progeny was performed to determine if the segregation ratio differed from the expected ratio. PPV resistance segregated in three apricot B&lt;su
APA, Harvard, Vancouver, ISO, and other styles
15

Jiang, Heng, Shulun Liang, Kai He, et al. "Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis." Journal of Medical Genetics 57, no. 6 (2020): 405–13. http://dx.doi.org/10.1136/jmedgenet-2019-106411.

Full text
Abstract:
BackgroundAdolescent idiopathic scoliosis (AIS) is a genetically heterogeneous disease characterised by three-dimensional deformity of the spine in the absence of a congenital spinal anomaly or neurological musculoskeletal disorder. The clinical variability and incomplete penetrance of some genes linked with AIS indicate that this disease constitutes an oligogenic trait.ObjectiveWe aimed to explore the oligogenic nature of this disease and identify novel AIS genes.MethodsWe analysed rare damaging variants within AIS-associated genes by using exome sequencing in 40 AIS trios and 183 sporadic pa
APA, Harvard, Vancouver, ISO, and other styles
16

Collins, A., S. Ennis, W. Tapper, and N. E. Morton. "Mapping oligogenes for atopy and asthma by meta-analysis." Genetics and Molecular Biology 23, no. 1 (2000): 1–10. http://dx.doi.org/10.1590/s1415-47572000000100001.

Full text
Abstract:
Meta-analysis is presented for published studies on linkage or allelic association that have in common only reported significance levels. Reporting is biassed, and nonsignificance is seldom quantified. Therefore meta-analysis cannot identify oligogenes within a candidate region nor establish their significance, but it defines candidate regions well. Applied to a database on atopy and asthma, candidate regions are identified on chromosomes 6, 5, 16, 11, 12, 13, 14, 7, 20, and 10, in rank order from strongest to weakest evidence. On the other hand, there is little support for chromosomes 9, 8, 1
APA, Harvard, Vancouver, ISO, and other styles
17

Hoefele, Julia, Matthias T. F. Wolf, John F. O’Toole, et al. "Evidence of Oligogenic Inheritance in Nephronophthisis." Journal of the American Society of Nephrology 18, no. 10 (2007): 2789–95. http://dx.doi.org/10.1681/asn.2007020243.

Full text
APA, Harvard, Vancouver, ISO, and other styles
18

Brunzell, John D. "Familial combined hyperlipidemia: an oligogenic disorder." Clínica e Investigación en Arteriosclerosis 22 (December 2010): 25–26. http://dx.doi.org/10.1016/s0214-9168(10)70031-0.

Full text
APA, Harvard, Vancouver, ISO, and other styles
19

Monasky, Michelle M., Emanuele Micaglio, Giuseppe Ciconte, and Carlo Pappone. "Brugada Syndrome: Oligogenic or Mendelian Disease?" International Journal of Molecular Sciences 21, no. 5 (2020): 1687. http://dx.doi.org/10.3390/ijms21051687.

Full text
Abstract:
Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk of sudden cardiac death (SCD) compared to the general population. Although BrS is considered a genetic disease, its molecular mechanism remains elusive in about 70–85% of clinically-confirmed cases. Variants occurring in at least 26 different genes have been previously considered causative, although the causative effect of all but the SCN5A gene has been recently challenged, due to the lack of systematic, evidence-bas
APA, Harvard, Vancouver, ISO, and other styles
20

Tada, Hayato, Atsushi Nohara, and Masa-aki Kawashiri. "Monogenic, polygenic, and oligogenic familial hypercholesterolemia." Current Opinion in Lipidology 30, no. 4 (2019): 300–306. http://dx.doi.org/10.1097/mol.0000000000000609.

Full text
APA, Harvard, Vancouver, ISO, and other styles
21

Yamaguchi, Takeshi, Akie Nakamura, Kanako Nakayama, et al. "Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening." Journal of Clinical Endocrinology & Metabolism 105, no. 8 (2020): e2825-e2833. http://dx.doi.org/10.1210/clinem/dgaa308.

Full text
Abstract:
Abstract Purpose Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder; however, its molecular etiology remains poorly understood. Methods We performed genetic analysis of 24 causative genes using next-generation sequencing in 167 CH cases, comprising 57 dyshormonogenesis (DH), 32 dysgenesis (TD) and 78 undiagnosed. The pathogenicity of variants was assessed by the American College of Medical Genetics guidelines, inheritance pattern, and published evidence. Furthermore, we compared the oligogenic groups and monogenic groups to examine the correlation between variant dos
APA, Harvard, Vancouver, ISO, and other styles
22

Renaux, Alexandre, Sofia Papadimitriou, Nassim Versbraegen, et al. "ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations." Nucleic Acids Research 47, W1 (2019): W93—W98. http://dx.doi.org/10.1093/nar/gkz437.

Full text
Abstract:
Abstract A tremendous amount of DNA sequencing data is being produced around the world with the ambition to capture in more detail the mechanisms underlying human diseases. While numerous bioinformatics tools exist that allow the discovery of causal variants in Mendelian diseases, little to no support is provided to do the same for variant combinations, an essential task for the discovery of the causes of oligogenic diseases. ORVAL (the Oligogenic Resource for Variant AnaLysis), which is presented here, provides an answer to this problem by focusing on generating networks of candidate pathogen
APA, Harvard, Vancouver, ISO, and other styles
23

Li, Lili, Matthew Neil Bainbridge, Yanli Tan, James T. Willerson, and Ali J. Marian. "A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy." Circulation Research 120, no. 7 (2017): 1084–90. http://dx.doi.org/10.1161/circresaha.116.310559.

Full text
APA, Harvard, Vancouver, ISO, and other styles
24

de Filippis, Tiziana, Giulia Gelmini, Elvezia Paraboschi, et al. "A frequent oligogenic involvement in congenital hypothyroidism." Human Molecular Genetics 26, no. 13 (2017): 2507–14. http://dx.doi.org/10.1093/hmg/ddx145.

Full text
APA, Harvard, Vancouver, ISO, and other styles
25

Tang, H. K. "Mapping quantitative trait loci in oligogenic models." Biostatistics 2, no. 2 (2001): 147–62. http://dx.doi.org/10.1093/biostatistics/2.2.147.

Full text
APA, Harvard, Vancouver, ISO, and other styles
26

Katsanis, N. "The oligogenic properties of Bardet-Biedl syndrome." Human Molecular Genetics 13, no. 90001 (2004): 65R—71. http://dx.doi.org/10.1093/hmg/ddh092.

Full text
APA, Harvard, Vancouver, ISO, and other styles
27

Blangero, John, and Laura Almasy. "Multipoint oligogenic linkage analysis of quantitative traits." Genetic Epidemiology 14, no. 6 (1997): 959–64. http://dx.doi.org/10.1002/(sici)1098-2272(1997)14:6<959::aid-gepi66>3.0.co;2-k.

Full text
APA, Harvard, Vancouver, ISO, and other styles
28

Long, Panpan, Le Wang, and Hongmei Xiao. "P234: Oligogenic basis of premature ovarian insufficiency." Genetics in Medicine Open 1, no. 1 (2023): 100262. http://dx.doi.org/10.1016/j.gimo.2023.100262.

Full text
APA, Harvard, Vancouver, ISO, and other styles
29

de Haan, Gerrit‐Jan, Dalila Pinto, Ed Bertram, Dorothee G. A. Kasteleijn‐Nolst Trenité, Bobby P. C. Koeleman, and Dick Lindhout. "Oligogenic inheritance in photosensitive juvenile myoclonic epilepsy?" Epileptic Disorders 8, no. 1 (2006): 32–36. http://dx.doi.org/10.1684/j.1950-6945.2006.tb00156.x.

Full text
Abstract:
ABSTRACT The interplay of multiple genetic factors, as opposed to monogenic inheritance, is suspected to play a role in many idiopathic generalized epilepsies. This leads to a digenic or oligogenic inheritance model, which although rather simplified, may explain at least some of the clinical observations. Here we describe a family in which the clinical phenotype in the offspring can be explained by a combination of photosensitivity and epilepsy traits that segregated independently of each other. This case history demonstrates the need to evaluate family histories in more detail in order to unc
APA, Harvard, Vancouver, ISO, and other styles
30

Moldin, Steven O., and Paul Van Eerdewegh. "Multivariate genetic analysis of an oligogenic disease." Genetic Epidemiology 12, no. 6 (1995): 801–6. http://dx.doi.org/10.1002/gepi.1370120645.

Full text
APA, Harvard, Vancouver, ISO, and other styles
31

Lio, P., and N. E. Morton. "Comparison of parametric and nonparametric methods to map oligogenes by linkage." Proceedings of the National Academy of Sciences 94, no. 10 (1997): 5344–48. http://dx.doi.org/10.1073/pnas.94.10.5344.

Full text
APA, Harvard, Vancouver, ISO, and other styles
32

Ersin, Demirel. "Cicadidae (Hemiptera: Auchenorrhyncha) from Mt. Musa, Turkey." Monographs of the Upper Silesian Museum 10 (December 1, 2019): 29–45. https://doi.org/10.5281/zenodo.3600143.

Full text
Abstract:
In this study, the Cicadidae from Mt Musa (Hatay Province, Turkey) are recorded from an evaluation of 33 specimens. The following six species are identified: <em>Cicada lodosi</em> Boulard, 1979, <em>Cicada mordoganensis</em> Boulard, 1979,<em> Cicadatra platyptera </em>Fieber, 1876, <em>Oligoglena turcica </em>(Sched l, 2001), <em>Oligoglena tibialis</em> (Panzer, 1798) and <em>Pagiphora annulata </em>(Brull&eacute;, 1832). Among these, only <em>Pagiphora annulata</em> (Brull&eacute;, 1832) has previously been recorded from Hatay Province, the others are new local records for Mt. Musa and Hat
APA, Harvard, Vancouver, ISO, and other styles
33

Sykiotis, G. P., L. Plummer, V. A. Hughes, et al. "Oligogenic basis of isolated gonadotropin-releasing hormone deficiency." Proceedings of the National Academy of Sciences 107, no. 34 (2010): 15140–44. http://dx.doi.org/10.1073/pnas.1009622107.

Full text
APA, Harvard, Vancouver, ISO, and other styles
34

Badano, Jose L., Carmen C. Leitch, Stephen J. Ansley, et al. "Dissection of epistasis in oligogenic Bardet–Biedl syndrome." Nature 439, no. 7074 (2005): 326–30. http://dx.doi.org/10.1038/nature04370.

Full text
APA, Harvard, Vancouver, ISO, and other styles
35

Baulina, N. M., I. S. Kiselev, O. S. Chumakova, and O. O. Favorova. "Hypertrophic Cardiomyopathy as an Oligogenic Disease: Transcriptomic Arguments." Molecular Biology 54, no. 6 (2020): 840–50. http://dx.doi.org/10.1134/s0026893320060023.

Full text
APA, Harvard, Vancouver, ISO, and other styles
36

King, Alistair L., and Paul J. Ciclitira. "Celiac Disease: Strongly Heritable, Oligogenic, but Genetically Complex." Molecular Genetics and Metabolism 71, no. 1-2 (2000): 70–75. http://dx.doi.org/10.1006/mgme.2000.3067.

Full text
APA, Harvard, Vancouver, ISO, and other styles
37

Williams, Jeff T., Karl E. North, Lisa J. Martin, Anthony G. Comuzzie, Harald H. H. Göring, and John Blangero. "Distribution of lod Scores in Oligogenic Linkage Analysis." Genetic Epidemiology 21, S1 (2001): S805—S810. http://dx.doi.org/10.1002/gepi.2001.21.s1.s805.

Full text
APA, Harvard, Vancouver, ISO, and other styles
38

McGarry, D., D. Jhaveri, R. Hostoffer, and H. Tcheurekdjian. "OLIGOGENIC HETEROZYGOUS MUTATIONS MANIFESTING AS COMBINED PRIMARY IMMUNODEFICIENCY." Annals of Allergy, Asthma & Immunology 121, no. 5 (2018): S100. http://dx.doi.org/10.1016/j.anai.2018.09.327.

Full text
APA, Harvard, Vancouver, ISO, and other styles
39

Feshchenko, E. M., and A. N. Yushkov. "Use of DNA markers in apple breeding to identify genetic sources of scab resistance (Venturia inaequalis (Cooke) G. Winter)." Pomiculture and small fruits culture in Russia 81 (July 18, 2025): 25–35. https://doi.org/10.31676/2073-4948-2025-81-25-35.

Full text
Abstract:
This review article analyzes the prospects of DNA markers in apple breeding and presents the results of testing DNA markers linked to scab resistance genes in Russian and international practice. Rvi6 was identified to be the most common gene in Russian varieties, with over 80 varieties carrying this gene having been approved for use in the Russian Federation. Genetic sources of three or more resistance oligogens are of interest for prompt pyramiding of resistance genes in hybrid offspring. Among the carriers of the three identified resistance genes were found to be the Venyaminovskoye, Orlovsko
APA, Harvard, Vancouver, ISO, and other styles
40

Maione, Luigi, Andrew A. Dwyer, Bruno Francou, et al. "GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing." European Journal of Endocrinology 178, no. 3 (2018): R55—R80. http://dx.doi.org/10.1530/eje-17-0749.

Full text
Abstract:
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients’ offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous disea
APA, Harvard, Vancouver, ISO, and other styles
41

Standing, Ariane SI, Ying Hong, Coro Paisan-Ruiz, et al. "TRAP1 chaperone protein mutations and autoinflammation." Life Science Alliance 3, no. 2 (2019): e201900376. http://dx.doi.org/10.26508/lsa.201900376.

Full text
Abstract:
We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model. Further genetic studies revealed homozygous mutations in TRAP1, encoding the mitochondrial/ER resident chaperone protein tumour necrosis factor receptor associated protein 1 (TRAP1). Identification of a fourth, unrelated
APA, Harvard, Vancouver, ISO, and other styles
42

Stefanski, Arthur, Eduardo Pérez-Palma, Marko Mrdjen, Megan McHugh, Costin Leu, and Dennis Lal. "Identification and quantification of oligogenic loss-of-function disorders." Genetics in Medicine 24, no. 3 (2022): 729–35. http://dx.doi.org/10.1016/j.gim.2021.10.026.

Full text
APA, Harvard, Vancouver, ISO, and other styles
43

van Blitterswijk, Marka, Michael A. van Es, Eric A. M. Hennekam, et al. "Evidence for an oligogenic basis of amyotrophic lateral sclerosis." Human Molecular Genetics 21, no. 17 (2012): 3776–84. http://dx.doi.org/10.1093/hmg/dds199.

Full text
APA, Harvard, Vancouver, ISO, and other styles
44

Camats, Núria, Christa E. Flück, and Laura Audí. "Oligogenic Origin of Differences of Sex Development in Humans." International Journal of Molecular Sciences 21, no. 5 (2020): 1809. http://dx.doi.org/10.3390/ijms21051809.

Full text
Abstract:
Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high through
APA, Harvard, Vancouver, ISO, and other styles
45

Tada, Hayato, Masa-aki Kawashiri, Akihiro Nomura, et al. "Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease." Journal of Clinical Lipidology 12, no. 6 (2018): 1436–44. http://dx.doi.org/10.1016/j.jacl.2018.08.006.

Full text
APA, Harvard, Vancouver, ISO, and other styles
46

Rogus, John J., and Jonathan L. Haines. "Evaluation of screening strategies to detect an oligogenic disease." Genetic Epidemiology 12, no. 6 (1995): 665–69. http://dx.doi.org/10.1002/gepi.1370120624.

Full text
APA, Harvard, Vancouver, ISO, and other styles
47

Smith, Judith M. "OLIGOGET-a computerized database system for controlling oligonucleotide production." Bioinformatics 9, no. 4 (1993): 479–80. http://dx.doi.org/10.1093/bioinformatics/9.4.479.

Full text
APA, Harvard, Vancouver, ISO, and other styles
48

Gentile, Giulia, Benedetta Perrone, Giovanna Morello, et al. "Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients." Genes 12, no. 12 (2021): 1843. http://dx.doi.org/10.3390/genes12121843.

Full text
Abstract:
The p.D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by prolonged survival and slow progression of disease, whereas the affected heterozygous phenotypes can vary. To date, no genetic protective factors located close to SOD1 have been associated with the mild progressive homozygous phenotype. Using Next Generation Sequencing (NGS), we characterized a small cohort of sporadic and familial p.D91A-SOD1 heterozygous (n = 2) or homozygous (n = 5) ALS patients, to reveal any additional contributing v
APA, Harvard, Vancouver, ISO, and other styles
49

Ihara, N., T. Watanabe, Y. Sato, T. Itoh, T. Suzuki, and Y. Sugimoto. "Oligogenic transmission of abnormal teat patterning phenotype (ATPP) in cattle." Animal Genetics 38, no. 1 (2007): 15–19. http://dx.doi.org/10.1111/j.1365-2052.2006.01544.x.

Full text
APA, Harvard, Vancouver, ISO, and other styles
50

Schaaf, C. P., A. Sabo, Y. Sakai, et al. "Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders." Human Molecular Genetics 20, no. 17 (2011): 3366–75. http://dx.doi.org/10.1093/hmg/ddr243.

Full text
APA, Harvard, Vancouver, ISO, and other styles
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!