Results 101 to 110 of about 145,242 (313)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Epidemiology of Cutaneous Leishmaniasis Outbreak, Waziristan, Pakistan
Emerging Infectious Diseases, 2018 During 2013–2015, prevalence of cutaneous leishmaniasis in war-affected Waziristan areas was 3.61% by PCR. Youths (1–15 years of age) were more susceptible.
Mubashir Hussain +9 more
doaj +1 more source
Polymorphism and chromosomal localization of the porcine signal transducer and activator of transcription 5B gene (STAT5B) [PDF]
, 2006 Signal transducers and activators of transcription (STATs) are a family of transcription factors. STAT5A and 5B are two highly related proteins encoded by two distinct genes.
Ballester, M +2 more
core +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Annals of Clinical Microbiology and Antimicrobials, 2009 We report on a rare case of pulmonary Nocardiosis and brain abscess caused by Nocardia otitidiscaviarum in an elderly woman with chronic obstructive pulmonary disease.
Aranaz Carlos +7 more
doaj +1 more source
Phylogenetic diversity of Moroccan cork oak woodlands fungi : mythe ou réalité ? [PDF]
, 2009 La variabilité interspécifique de 87 carpophores des champignons appartenant à 15 genres et 39 espèces ont été évaluées par l'analyse du polymorphisme de longueur de fragments de restriction (RFLP) de l'espaceur interne transcrit (ITS).
Abourouh, Mohamed +5 more
core
Genetic polymorphism of cytochrome p450 (2C19) enzyme in Iranian Turkman ethnic group [PDF]
, 2013 Objective: Different findings indicate that CYP2C plays a clinical role in determining interindividual and interethnic differences in drug effectiveness. The ethnic differences in the frequency of CYP2C19 mutant alleles continue to be a significant study
Ataby, O.A. +4 more
core +2 more sources
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Genetic polymorphism of β-Lactoglobulin gene in indigenous Nigerian goat breeds [PDF]
Journal of Agricultural Sciences (Belgrade), 2019 Polymorphism at the β-Lactoglobulin (β-LG) gene of three Nigerian goat breeds, namely: the West African Dwarf, Sahel and Red Sokoto goats, was investigated using the Polymerase Chain Reaction-Random Fragment Length Polymorphism (PCR-RFLP) method.
Ezewud Anthony E. +3 more
doaj