Results 171 to 180 of about 19,235 (265)

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations

, 2008
Mary J. Heeb, Sophie Gandrille, José A. Fernández, John H. Griffin, Peter F. Fedullo   +4 more
openalex   +1 more source

Additive and Partially Dominant Effects from Genomic Variation Contribute to Rice Heterosis

Advanced Science, EarlyView.
Additive and partially dominant effects, namely at mid‐parent levels or values between mid‐parent and parental levels, respectively, are the predominant inheritance patterns of heterosis‐associated molecules. These two genetic effects contribute to heterosis of agronomic traits in both rice and maize, as well as biomass heterosis in Arabidopsis ...
Zhiwu Dan, Yunping Chen, Wei Zhou, Yanghong Xu, Junran Huang, Yi Chen, Jizhou Meng, Guoxin Yao, Wenchao Huang   +8 more
wiley   +1 more source

β-Thalassaemia Major Malay Patient with Compound Heterozygosity for IVS 1-5 (G>C) Mutation and IVS-1 25bp Deletion: Case Report

, 2015
Faidatul Syazlin Abdul Hamid
openalex   +1 more source

Decision letter for "Compound heterozygosity for <scp>PTPN11</scp> variants in a subject with Noonan syndrome provides insights into the mechanism of <scp>SHP2</scp> ‐related disorders"

, 2020

openalex   +1 more source

Phylogenomics reveals the evolution of floral traits associated with pollinators and pollinator–prey conflict within the carnivorous Pinguicula subgenus Temnoceras

American Journal of Botany, EarlyView.
Abstract Premise The carnivorous plant genus Pinguicula (Lentibulariaceae) exhibits remarkable floral diversity associated with pollination, particularly in the largest subgenus Temnoceras, which spans Mexico and Central America. Despite this diversity, the relationships between species and the evolution of key floral traits remain unresolved. Here, we
Yunjia Liu, Qianshi Lin, Steven J. Fleck, Martín Mata‐Rosas, Enrique Ibarra‐Laclette, Tanya Renner   +5 more
wiley   +1 more source

Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is a chronic inflammatory state, characterized by increased plasma values of inflammatory and angiogenic proteins. Although red blood cell (RBC) transfusion is known to have immunomodulatory effects in other conditions, its potential effects on the inflammatory state in SCD remain largely unknown.
Lydian A. de Ligt, Sanjay R. Thakoerdin, Maud Zwolsman, Gaby Stegemann, Hanke Matlung, Taco W. Kuijpers, Bart J. Biemond, Karin Fijnvandraat, Robin van Bruggen, Erfan Nur   +9 more
wiley   +1 more source

Compound Heterozygosity for an Apolipoprotein A1 Gene Promoter Mutation and a Structural Nonsense Mutation With Apolipoprotein A1 Deficiency [PDF]

, 1999
Akira Matsunaga, Junichi Sasaki, Hua Han, Weitong Huang, Mari Kugi, Takafumi Koga, Sadanori Ichiki, Tomoko Shinkawa, Kikuo Arakawa   +8 more
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient. [PDF]

Hum Genome Var, 2020
Cueto-González AM, Fernández-Cancio M, Fernández-Alvarez P, García-Arumí E, Tizzano EF.   +4 more
europepmc   +1 more source

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

, 2014
Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom   +41 more
openalex   +1 more source