Results 141 to 150 of about 68,369 (257)

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

The disappearance of malaria from Denmark, 1862–1900

The Economic History Review, EarlyView.
Abstract The reason for malaria's disappearance from northwestern Europe in the early twentieth century has long been discussed but remains an unresolved conundrum. This is partially due to a previous focus on the early modern era, and partially because various theories have never been tested against each other.
Mathias Mølbak Ingholt, Maarten van Wijhe, Lone Simonsen, Daniel Weinberger   +3 more
wiley   +1 more source

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

Philadelphia chromosome‐positive acute lymphoblastic leukaemia in children and adolescents: A changing treatment landscape and a methodological challenge

British Journal of Haematology, EarlyView.
Adriana Balduzzi, Maria Grazia Valsecchi, Thai Hoa Tran, Jan Zuna, Veronica Leoni, Gunnar Cario, Grazia Fazio, Virginie Gandemer, Sarah K. Tasian, Inge M. van der Sluis, Nicolò Peccatori, Rosanna Parasole, Stefania Monterisi, Mignon L. Loh, Meenakshi Devidas, Stephen P. Hunger, John A. Kairalla, Paola De Lorenzo, Lewis B. Silverman, Andrea Biondi   +19 more
wiley   +1 more source

Canine chronic idiopathic rhinitis: management and outcome – a single‐centre retrospective observational study

Journal of Small Animal Practice, EarlyView.
Objectives Canine chronic idiopathic rhinitis is a common cause of nasal disease in dogs but data reporting outcomes following treatment is lacking. The aim was to describe pre‐ and post‐referral management and outcomes of dogs diagnosed with canine chronic idiopathic rhinitis at a single referral centre.
P. M. N. Henry, R. Rizzo, Y. Tan, A. M. Boag, J. Del‐Pozo, G. A. Woods   +5 more
wiley   +1 more source

The Need for a Revision of Fluoroquinolone Breakpoints for Interpretation of Antimicrobial Susceptibility Testing of Feline Bacterial Isolates

Journal of Veterinary Pharmacology and Therapeutics, EarlyView.
ABSTRACT The fluoroquinolone antimicrobial agents, enrofloxacin and marbofloxacin, were approved in the United States for cats in 1990 and 2001, respectively. In 2023, revised breakpoints for testing isolates from dogs were published. These canine breakpoints are discordant with the current feline breakpoints.
Mark G. Papich, Lacie A. Gunnett, Marilyn N. Martinez   +2 more
wiley   +1 more source

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Human Genome Variation
A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion.
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto   +4 more
doaj   +1 more source