Results 31 to 40 of about 309,203 (310)

Congenital disorders in the cattle population of the Czech Republic

Czech Journal of Animal Science, 2009
The aim of the paper was to analyse congenital disorders in the Czech cattle population in 1986-2001. The offspring of 474 sires - 215 Czech Simmental, 236 Holstein, and 23 beef - were diagnosed with congenital disorders which were unevenly distributed ...
J. Čítek, V. Řehout, J. Hájková
doaj   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

Enzymatic insights into an inherited genetic disorder

eLife, 2017
Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj   +1 more source

A global disorder of imprinting in the human female germ line [PDF]

, 2002
Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean, BE Hayward, BE Hayward, BE Hayward, Bruce E. Hayward, D Bourc’his, David T. Bonthron, Eamonn Sheridan, Hannah Judson, J Liu, J Liu, JS Sutcliffe, K Buiting, L Strain, M Kamiya, MN Helwani, MP Lee, NJ Smilinich, O El-Maarri, R Shemer, RA Fisher, RJ Gardner, S Engemann, SJ Clark, SK Murphy, T Kajii, T Kaneko-Ishino, T Ohta, W Reik, W Reik, YB Moglabey   +30 more
core   +1 more source

HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?

Journal of the Dow University of Health Sciences, 2008
Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj   +4 more sources

Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder

Dubai Medical Journal, 2020
Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death.
Juwairiya Syed Iqbaluddin, Fathima Murthuza, Sumaiya Iqbal   +2 more
doaj   +1 more source

Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes [PDF]

, 2019
Background: myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with MD.
Bartels, Anna L., Bergmans, Bruno, Kuiper, Anouk, Santens, Patrick, Smit, Marenka, Tijssen, Marina A. J., Timmers, Elze R., van der Stouwe, A. M. Madelein, van der Veen, Sterre   +8 more
core   +2 more sources

Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Orphanet Journal of Rare Diseases, 2023
Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh.
Amanda S. Wendt, Joaquin Brintrup, Jillian L. Waid, Abdul Kader, Nathalie J. Lambrecht, Sabine Gabrysch   +5 more
doaj   +1 more source

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

International Journal of Neonatal Screening, 2021
Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]
Stephan Lobitz, Joachim B. Kunz, Holger Cario, Dani Hakimeh, Andrea Jarisch, Andreas E. Kulozik, Lena Oevermann, Regine Grosse   +7 more
doaj   +1 more source

The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume

Platelets, 2022
The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor, David Rabbolini, Marie-Christine Morel-Kopp, Kate Fixter, Dea Donikian, Mayuku Kondo, Onki Chan, Susan Jarvis, Walter Chen, Timothy Brighton, Vivien Chen, Christopher Ward, Joanne Joseph   +12 more
doaj   +1 more source