Results 171 to 180 of about 61,668 (260)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Delayed Numerical Chromosome Aberrations in Human Fibroblasts by Low Dose of Radiation. [PDF]

Int J Environ Res Public Health, 2015
Cho YH, Kim SY, Woo HD, Kim YJ, Ha SW, Chung HW.   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics. [PDF]

Cancer Genomics Proteomics
Panagopoulos I.
europepmc   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Discovery and Biosynthesis of the Novel Glycotetrapeptide Antibiotic Biffamycin A

Angewandte Chemie, EarlyView.
Genetic de‐regulation of a silent biosynthetic pathway allowed isolation and characterisation of a novel glycopeptide antibiotic named biffamycin A, which harbours unprecedented 5‐chloro‐4‐methoxy tryptophan and 3R‐hydroxy(α‐D‐mannoysl)‐D‐lysine moieties and is bioactive against MRSA and VRSA.
Michael W. Brigham, Edward S. Hems, Daniel C. L. Van, Justin E. Clarke, Sergey Nepogodiev, Julius S. P. Adamson, Christian Bassi, Michael E. Webb, Glyn R. Hemsworth, Orde Q. Munro, Barrie Wilkinson, Ryan F. Seipke   +11 more
wiley   +2 more sources

Leveraging a spectrum of cytogenomics methods for profiling complex karyotypes in chronic lymphocytic leukemia. [PDF]

Hum Genomics
Cernovska K, Penazova S, Stranska K, Porc JP, Skalakova P, Ondrouskova E, Rausch T, Svaton J, Tausova K, Kazdova N, Pal K, Hynst J, Benes V, Jarosova M, Pospisilova S, Kotaskova J, Plevova K.   +16 more
europepmc   +1 more source

A Short History and Description of Drosophila melanogaster Classical Genetics: Chromosome Aberrations, Forward Genetic Screens, and the Nature of Mutations. [PDF]

Genetics, 2017
Kaufman TC.
europepmc   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations. [PDF]

Adv Tech Biol Med, 2015
Lemke KH, Weier JF, Weier HG, Lawin-O'Brien AR.   +3 more
europepmc   +1 more source