Results 51 to 60 of about 3,939 (213)

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey [PDF]

Journal of Human Genetics, 2014
Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis.
Ozantürk, AyÅŸegül, Marshall, Jan D., Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, Ä°hsan, TaÅŸkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Ãœstün, Ä°hsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha ReÅŸid, Erol, Ä°lknur, EroÄŸlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, ElçioÄŸlu, Nursel, Satman, Ä°lhan, Möller, Claes, Muller, Jean, Naggert, Juergen K, Özgül, Rıza Köksal   +27 more
openaire   +9 more sources

The relationship between lactate production in the myocardium and the development of chest pain in patients with coronary artery disease (CAD) [PDF]

, 2013
BackgroundSilent myocardial ischemia (SMI) was recognized as early as the beginning of the 20th century. The consequences of silent ischemia can be grave because lack of symptoms and lack of symptom recognition.
Abdelwahab, Hany Ahmad Mohammad
core   +1 more source

Truncation of POC1A associated with short stature and extreme insulin resistance. [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barroso, Inês, Chen, Jian-Hua, Huang-Doran, Isabel, O'Rahilly, Stephen, Payne, Felicity, Savage, David B, Segni, Maria, Semple, Robert K, Sleigh, Alison, UK10K Consortium   +10 more
core   +2 more sources

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals

Orphanet Journal of Rare Diseases, 2023
Background Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physical health, psychosocial and financial consequences.
Holly Walton, Pei Li Ng, Amy Simpson, Lara Bloom, Lyn S. Chitty, Naomi J. Fulop, Amy Hunter, Jennifer Jones, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Kerry Leeson-Beevers, Sharon Parkes, Angus I. G. Ramsay, Alastair Sutcliffe, Christine Taylor, Stephen Morris   +16 more
doaj   +1 more source

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics [PDF]

, 2022
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler,
Arram, Elizabeth, Georgiou, Michalis, Guimaraes, Thales Antonio Cabral de, Michaelides, Michel, Shakarchi, Ahmed F   +4 more
core  

A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. [PDF]

, 2013
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated ...
Borman, Arundhati Dev, Davidson, Alice E, Farooqi, I Sadaf, Garg, Sumedha, Henderson, Robert, Mackay, Donna S, Moore, Anthony T, Nagel-Wolfrum, Kerstin, Pearce, Laura R, Plagnol, Vincent, Waseem, Naushin H, Webster, Andrew R, Wolfrum, Uwe   +12 more
core   +2 more sources

Quantum Data-Syndrome Codes [PDF]

IEEE Journal on Selected Areas in Communications, vol. 38, no. 3, pp. 449-462, March 2020, 2019
Performing active quantum error correction to protect fragile quantum states highly depends on the correctness of error information--error syndromes. To obtain reliable error syndromes using imperfect physical circuits, we propose the idea of quantum data-syndrome (DS) codes that are capable of correcting both data qubits and syndrome bits errors.
arxiv   +1 more source

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation [PDF]

, 2020
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Dollfus, Helene, Gouronc, Aurélie, Leuvrey, Anne-Sophie, Mauring, Laura, Muller, Jean, Pelletier, Valerie, Porter, Louise Frances, Riehm, Axelle, Stoetzel, Corinne, Studer, Fouzia   +9 more
core   +2 more sources

Soft Syndrome Decoding of Quantum LDPC Codes for Joint Correction of Data and Syndrome Errors [PDF]

arXiv, 2022
Quantum errors are primarily detected and corrected using the measurement of syndrome information which itself is an unreliable step in practical error correction implementations. Typically, such faulty or noisy syndrome measurements are modeled as a binary measurement outcome flipped with some probability.
arxiv  

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. [PDF]

Journal of Medical Genetics, 1990
We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.
John R.W. Yates, Anthony T. Moore, P. Clark, Stephen J. Charles, T. Green   +4 more
openaire   +3 more sources