Results 171 to 180 of about 425,761 (264)

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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Metabolomics survey of uropathogenic bacteria in human urine. [PDF]

Front Microbiol
Chan CCY, Groves RA, Rydzak T, Lewis IA.
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

Metabolomic Profiling of Human Urine Related to Mycotoxin Exposure. [PDF]

Toxins (Basel)
Dasí-Navarro N, Lombardi S, Vila-Donat P, Llop S, Vioque J, Soler-Blasco R, Esplugues A, Manyes L, Lozano M.   +8 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Simultaneous profiling of mercapturic acids, glucuronic acids, and sulfates in human urine. [PDF]

Environ Int
Chen JY, Sutaria SR, Xie Z, Kulkarni M, Keith RJ, Bhatnagar A, Sears CG, Lorkiewicz P, Srivastava S.   +8 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Centrifugal pipette-tip extraction using pyrolyzed cotton fibers combined with mass spectrometry: High-throughput analysis of methadone and its major metabolite in human urine. [PDF]

Mikrochim Acta
Millán-Santiago J, Lucena R, Cárdenas S.   +2 more
europepmc   +1 more source

Real‐Life Study on Gilteritinib‐Related Infections (GilteRInf): An Italian SEIFEM Study

American Journal of Hematology, EarlyView.
Elisa Buzzatti, Irene Terrenato, Martina Tomassi, Federica Lessi, Sara Pezone, Cristina Papayannidis, Gianluca Martini, Fabio Forghieri, Luana Fianchi, Martina Quattrone, Nicola Fracchiolla, Claudio Fozza, Michela Abbenante, Anna Lina Piccioni, Davide Facchinelli, Claudia Maria Basilico, Caterina Buquicchio, Nicola Di Renzo, Monica Piedimonte, Maria Giovanna Cefalo, Daniele Armiento, Adriano Venditti, Alessandro Busca, Francesco Marchesi, Maria Ilaria Del Principe, Livio Pagano   +25 more
wiley   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source