Results 171 to 180 of about 9,839 (200)

Phenotypic diversity in NAXE mutations

Neurological Sciences
NAD(P)HX epimerase (NAXE) gene mutations have been associated with early onset progressive encephalopathy. We present three patients with NAXE gene mutations and different initial manifestations.Patient(P)1 was a 30 month-old boy whose neurological regression started after an infection and progressed, ultimately leading to death one year later.
Ismail Solmaz, Dilek Yalnızoğlu, Ali Dursun, Kısmet Çıkı, Halil Tuna Akar, Rıza Köksal Özgül, Can Koşukçu, Abdullah Sezer, Deniz Çağdaş, Saliha Esenboğa, Begüm Özbek, Damla Aygün, Didem Yücel Yılmaz, Şafak Parlak, Rahşan Göçmen, Kader Karlı Oğuz, Banu Anlar   +16 more
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Cardiac phenotypes in LMNA mutations

Current Opinion in Cardiology
Purpose of review This review highlights the diverse cardiac manifestations of LMNA mutations, focusing on their underlying molecular mechanisms and clinical implications. As LMNA mutations are implicated in cardiomyopathies, such as dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ARVC), and conduction system ...
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SPINK1 Mutations Are Associated with Multiple Phenotypes

Pancreatology, 2001
Mutations in the gene encoding for the pancreatic secretory trypsin inhibitor or serine protease inhibitor, Kazal type I (SPINK1) have been associated with different entities of chronic pancreatitis. While there is no doubt about the involvement of SPINK1 mutations in pancreatic inflammatory disease, much controversy has arisen regarding which ...
R H, Pfützer, D C, Whitcomb
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Unusual phenotypic expression of the DYT1 mutation

Parkinsonism & Related Disorders, 2003
Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course.
Emilia Mabel, Gatto, Manuel María Fernandez, Pardal, Federico Eduardo, Micheli   +2 more
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Expanding phenotype of ATP1A3 mutation

Acta Neurologica Belgica, 2021
Ajith Cherian, J. Nandana, K. P. Divya, Sharath Chandra Shetty   +3 more
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Phenotypic spectrum of DARS2 mutations

Journal of the Neurological Sciences, 2017
Josef, Finsterer, Sinda, Zarrouk-Mahjoub
openaire   +2 more sources

Phenotypic spectrum of POLG1 mutations

Neurological Sciences, 2017
Josef Finsterer, Fulvio A. Scorza
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A novel CX32 mutation with unusual phenotype

2008
- ISSN: 1085 ...
MAZZEO, Anna, Fabrizi G, Taioli F, Arena G, TOSCANO, Antonio, VITA, Giuseppe   +5 more
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A mutator phenotype in cancer.

Cancer research, 2001
We have proposed that an early step in tumor progression is the expression of a mutator phenotype resulting from mutations in genes that normally function in the maintenance of genetic stability. There is new and strong experimental evidence that supports the concept of a mutator phenotype in cancer.
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Mutator Phenotype

2006
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