Results 121 to 130 of about 4,000 (206)

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Louise A. Metherell, Danielle Naville, George Halaby, Martine Begeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy W. Tomlinson, Nils P. Krone, Lin Lin, Michael Racine, Dan M. Berney, John C. Achermann, Wiebke Arlt, Adrian J. L. Clark, Clark, Tsigos, Cooray, Metherell, Génin, Fujieda, Stocco, Bhangoo, Qiu, Chen, Nakae, Korsch, Flück, Bose, Fujieda, Okuyama, Baker, O'Riordan, Miller, Miller, Aya, Lin, Lin   +38 more
core   +1 more source

Interpreting the dependence of mutation rates on age and time [PDF]

, 2015
Mutations can arise from the chance misincorporation of nucleotides during DNA replication or from DNA lesions that are not repaired correctly. We introduce a model that relates the source of mutations to their accumulation with cell divisions, providing
Gao, Ziyue, Przeworski, Molly, Sella, Guy, Wyman, Minyoung J.   +3 more
core   +5 more sources

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

Genes, 2019
Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis.
A. ur Rehman, V. Peter, Mathieu Quinodoz, A. Rashid, Syed Akhtar Khan, A. Superti-Furga, C. Rivolta   +6 more
semanticscholar   +1 more source

Clinical applications of Genome Polymorphism Scans

Biology Direct, 2006
Applications of Genome Polymorphism Scans range from the relatively simple such as gender determination and confirmation of biological relationships, to the relatively complex such as determination of autozygosity and propagation of genetic information ...
Weber James L
doaj   +1 more source

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [PDF]

, 2014
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, R., Alkuraya, F.S., Almoisheer, A., Alshiddi, T., Alzahrani, F., Beales, P.L., Faqeih, E., Hashem, A., Holder, I., Lausch, E., Mitchison, H.M., Mitchison, H.M., Schmidts, M., Shaheen, R., Superti-Furga, A.   +14 more
core   +2 more sources

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.

PLoS Genetics, 2016
It is well known that inbreeding increases the risk of recessive monogenic diseases, but it is less certain whether it contributes to the etiology of complex diseases such as schizophrenia.
Emma C Johnson, Douglas W Bjelland, Daniel P Howrigan, Abdel Abdellaoui, Gerome Breen, Anders Borglum, Sven Cichon, Franziska Degenhardt, Andreas J Forstner, Josef Frank, Giulio Genovese, Stefanie Heilmann-Heimbach, Stefan Herms, Per Hoffman, Wolfgang Maier, Manuel Mattheisen, Derek Morris, Bryan Mowry, Betram Müller-Mhysok, Benjamin Neale, Igor Nenadic, Markus M Nöthen, Colm O'Dushlaine, Marcella Rietschel, Douglas M Ruderfer, Dan Rujescu, Thomas G Schulze, Matthew A Simonson, Eli Stahl, Jana Strohmaier, Stephanie H Witt, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Patrick F Sullivan, Matthew C Keller   +33 more
doaj   +1 more source

Wolf outside, dog inside? The genomic make-up of the Czechoslovakian Wolfdog [PDF]

, 2018
Background Genomic methods can provide extraordinary tools to explore the genetic background of wild species and domestic breeds, optimize breeding practices, monitor and limit the spread of recessive diseases, and discourage illegal crossings.
Bolf\uedkov\ue1, Barbora \u10cern\ue1, Camatta, Alessio, Caniglia, Romolo, Carnier, Paolo, Dykyy, Ihor, Fabbri, Elena, Galaverni, Marco, Hulva, Pavel, Jind\u159ichov\ue1, Milena, Randi, Ettore, Stronen, Astrid Vik   +10 more
core   +2 more sources

Study of genetic diversity of Bisaro pigs breed by pedigree analysis [PDF]

, 2010
The objective of this work was to study the genetic diversity of the Portuguese autochthonous pig breed Bísaro by pedigree analysis. Data of Bísaro pigs breed was taken from the database of the National Breeders (Association Associação Nacional de ...
Cadavez, Vasco, Fernandes, S.D., Kovac, Milena, Malovrh, Špela   +3 more
core  

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

PLoS ONE, 2017
Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases.
Edoardo Giacopuzzi, Massimo Gennarelli, Alessandra Minelli, Rita Gardella, Paolo Valsecchi, Michele Traversa, Cristian Bonvicini, Antonio Vita, Emilio Sacchetti, Chiara Magri   +9 more
doaj   +1 more source

Conflation of short identity-by-descent segments bias their inferred length distribution

, 2015
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to contain an IBD segment if they share a segment that is inherited from a recent shared common ancestor without ...
Chiang, Charleston W. K., Novembre, John, Ralph, Peter   +2 more
core   +2 more sources