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)
acanthosis nigricans/seizures
L'enllaç es desa al porta-retalls
12 resultats
Benign acanthosis nigricans with atonic cerebral palsy, mental retardation and convulsions.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
[Case of a Japanese female presenting severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome with a K650M mutation in the fibroblast growth factor receptor 3 gene].
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
We diagnosed a Japanese female as having severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome. Genetic analysis revealed a K650M point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, described in only six other individuals in the world. The
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
We describe a 2-year-old boy born to healthy, consanguineous parents. He had craniofacial asymmetry with left frontal bossing, midface hypoplasia, proptosis, and low-set ears. In addition, he had curly, light hair, and oval hypomelanotic patches in the abdomen, lower limbs and back and one
[Autoimmunological receptor diseases].
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Specific chemical signals are recognized by cell receptors which initiate an appropriate biologic response. Autoimmune reactions against hormone receptors can lead to failure of receptor function. Several mechanisms are responsible for either abnormal stimulation or blockade of the receptor-mediated
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
BACKGROUND
Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acanthosis nigricans, and polycystic ovarian
Morbid obesity in a child with monosomy 1p36 syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical craniofacial dysmorphism. Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and
Berardinelli-Seip syndrome in a 6-year-old boy.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation
Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
A girl presented with small stature, obesity, tapetoretinal degeneration, deafness, psychomotor regression, seizures, acanthosis nigricans, hepatomegaly, and chronic tubulointerstitial nephropathy. She died at age ten with renal insufficiency and uncontrolled seizures. Histochemistry showed lipid
Reproductive axis after discontinuation of gonadotropin-releasing hormone analog treatment of girls with precocious puberty: long term follow-up comparing girls with hypothalamic hamartoma to those with idiopathic precocious puberty.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Although the GnRH agonist analogs have become an established treatment for precocious puberty, there have been few long term studies of reproductive function and general health after discontinuation of therapy. To this end, we compared peak LH and FSH after 100 microg sc GnRH, estradiol, mean
Berardinelli-Seip syndrome and progressive myoclonus epilepsy.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans.
Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Garcia-Hafner-Happle syndrome, also known as Fibroblast growth factor receptor 3 epidermal nevus syndrome, is a new neurocutaneous phenotype, which has been identified in 2008 by Garcı'a-Vargas et al. The disorder is caused by a mosaic R248C mutation of the FGFR3 gene, which is characterized by a
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
