Catalan
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
cone dystrophy/obesitat
L'enllaç es desa al porta-retalls
Pàgina 1 des de 42 resultats
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
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 using autozygosity mapping and whole-exome
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
BACKGROUND
Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.
METHODS
SNP genotype data were used for linkage analysis and exome
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations. BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of the kidney, rod cone dystrophy, and varying degrees
A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS
Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
The presence of hydrometrocolpos and postaxial polydactyly in a neonate can be caused by two genetic conditions; namely, McKusick-Kaufman syndrome and Bardet-Biedl syndrome. There are no distinct clinical features that allow discrimination between the two syndromes, as the cardinal features of
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis pigmentosa (RP), hypogonadism, digit and renal anomalies, obesity, and a variable degree of mental retardation characterize the disorder. Eight different loci have been
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse
Bardet-Biedl-Syndrom – Diagnose und klinischer Verlauf.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
The Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy, which is accompanied by retinal disease, i.e. rod-cone dystrophy (retinitis pigmentosa, RP) and other symptoms, especially truncal obesity, polydactyly, renal abnormalities as well as reduced intelligence or learning difficulties. 25
Novel interaction partners of Bardet-Biedl syndrome proteins.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is a rare, developmental disorder characterized by six major symptoms: rod-cone dystrophy, obesity, polydactyly, renal abnormalities, learning difficulties, and hypogonadism. Secondary features include cardiac and hepatic anomalies, metabolic disturbancies, and hearing
Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by rod-cone dystrophy, polydactyly, central obesity, mental retardation, and hypogonadism. Although many organs are involved in BBS, hyperammonemia caused by portal hypertension has been reported previously in only a single
Laurence Moon Bardet Biedl Syndrome with anaemia.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in
Bardet-Biedl syndrome: multiple fingers with multiple defects!
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3 months duration.
Bardet-Biedl syndrome with syndrome X: a patient report.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of
La base de dades d’herbes medicinals més completa avalada per la ciència
- Funciona en 55 idiomes
- Cures a base d'herbes recolzades per la ciència
- Reconeixement d’herbes per imatge
- Mapa GPS interactiu: etiqueta les herbes a la ubicació (properament)
- Llegiu publicacions científiques relacionades amb la vostra cerca
- Cerqueu herbes medicinals pels seus efectes
- Organitzeu els vostres interessos i estigueu al dia de les novetats, els assajos clínics i les patents
Escriviu un símptoma o una malaltia i llegiu sobre herbes que us poden ajudar, escriviu una herba i vegeu malalties i símptomes contra els quals s’utilitza.
* Tota la informació es basa en investigacions científiques publicades
