Results 231 to 240 of about 291,872 (291)

Hospitalization Outcomes of Patients with Asthma, COPD, and Asthma-COPD Overlap Syndrome. [PDF]

Chronic Obstr Pulm Dis
Modak M, Rowlands WM, Sleiman J, Attaway AH, Bleecker ER, Zein J.   +5 more
europepmc   +1 more source

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

Screening and Verification COPD-OSA Overlap Syndrome Core Genes Using Bioinformatics. [PDF]

Int J Chron Obstruct Pulmon Dis
Qiang S, Wan R, Wu J, Wang C, Cui X, Zhang Y.   +5 more
europepmc   +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

The Overlap Syndrome Paradox: Chronic Obstructive Pulmonary Disease and Obstructive Sleep Apnea Care Doesn't Overlap. [PDF]

Ann Am Thorac Soc
Raphelson JR, Owens RL.
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Overlap Syndrome (COPD and OSA): A Treatable Trait for Triple Treatment? [PDF]

Pulm Ther
Voulgaris A, Kalkanis A, Steiropoulos P.
europepmc   +1 more source

[The overlap syndrome].

Reumatologia, 1984
K, Wysocka, K, Dominiczak, J, Kiczak
openaire   +1 more source

Aortic Regurgitation in a Patient with Rheumatoid Arthritis/Systemic Lupus Erythematosus Overlap Syndrome (Rhupus): Case Report and Review of Literature. [PDF]

J Cardiovasc Dev Dis
Radić M, Đogaš H, Bečić T, Šimac P, Jukić I, Radić J, Fabijanić D.   +6 more
europepmc   +1 more source