Results 111 to 120 of about 390,978 (313)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

An investigation of the association between herpesviruses and respiratory disease in racehorses in Western Australia

, 2003
Respiratory disease is an important cause of wastage in the Australian horse racing industry and viruses are frequently suspected as aetiological agents of respiratory disease or poor performance by clinicians and trainers but confirmation is seldom ...
Wang, Liping
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URINARY TRACT INFECTION IN WOMEN AGED 18-64: DOCTORS', PATIENTS’, AND LAY PERCEPTIONS AND UNDERSTANDINGS. [PDF]

, 2012
This thesis provides an insight into the problems of urinary tract infection (UTI) through the eyes of women sufferers, non-sufferers, and health professionals. It describes the use of language and metaphor in women’s descriptions.
LARCOMBE, JAMES,HUGH, Larcombe, James Hugh   +1 more
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Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

ColdZyme® reduces viral load and upper respiratory tract infection duration and protects airway epithelia from infection with human rhinoviruses [PDF]

Upper respiratory tract infection (URTI) has a significant economic and social impact and is a major factor compromising athletes' training and competition. The effects of ColdZyme® Mouth Spray on URTI were investigated using an in vivo study in athletes,
Marlene Schoeman, Dulson, Deborah K., Dulson, Deborah K, Davison, Glen, Wilfried Posch, Consoli, Claudia, Conor McCullough, Chidley, C., Schoeman, Marlene, Deborah K. Dulson, Doris Wilflingseder, Witting, Christina, Christina Witting, Wilflingseder, Doris, Matta, Guilherme G., Matta, Guilherme G, Matta, Guilherme, Chidley, Corinna, Schweighofer, Paul, Kyle Farley, McCullough, Conor, Dulson, Deborah, Glen Davison, Farley, Kyle, Claudia Consoli, Paul Schweighofer, Corinna Chidley, Guilherme G. Matta, Posch, Wilfried   +28 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Human Rhinovirus at Naturally Occurring COPD Exacerbation

, 2015
Chronic obstructive pulmonary disease (COPD) is an inflammatory condition of the lung caused by an abnormal response to particles and noxious gases, primarily cigarette smoke.
George, SN
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Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Honey as an antiviral agent against respiratory syncytial virus

, 2011
Respiratory syncytial virus is the most frequent cause of hospitalization for viral respiratory infections in infants and young children worldwide. It also severely affects immunocompromised adults and the elderly, however, despite decades of efforts ...
Zareie, Parvaneh Palma
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