retinitis pigmentosa/השמנת יתר חולנית

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בחר סוג מיון

עמוד 1 מ 180 תוצאות

Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Body mass index (BMI) is the most commonly used quantitative measure of adiposity. It is a kind of complex genetic diseases which are caused by multiple susceptibility genes. The first intron of fat mass and obesity-associated (FTO) has been widely discovered to be associated with BMI. Retinitis

Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

The first intron of FTO contains common single nucleotide polymorphisms associated with body weight and adiposity in humans. In an effort to identify the molecular basis for this association, we discovered that FTO and RPGRIP1L (a ciliary gene located in close proximity to the transcriptional start

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

OBJECTIVE To evaluate and compare the protective effect of tauroursodeoxycholic acid (TUDCA) on photoreceptor degeneration in different models of retinal degeneration (RD) in mice. METHODS Bbs(M390R/M390R) mice were injected subcutaneously twice a week, from P40 to P120, and rd10 mice were injected

The Laurence-Moon-Biedl syndrome. Six cases of obesity, short stature, mental retardation, small genitalia, and retinitis pigmentosa.

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התחבר הרשם

ATYPICAL RETINITIS PIGMENTOSA ASSOCIATED WITH OBESITY, POLYDACTYLY, HYPOGENITALISM, AND MENTAL RETARDATION (THE LAURENCE-MOON-BIEDL SYNDROME) (Clinical and Genealogical Notes on a Case).

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התחבר הרשם

On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Combined occurrence of diabetes mellitus and retinitis pigmentosa.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

The combined occurrence of diabetes mellitus (DM) and retinitis pigmentosa (RP) is rare. It has been reported in the form of four different syndromes that are inherited in an autosomal recessive fashion. We describe two cases of DM and RP occurring together. The first case was a 35-year-old male who

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

TUB is the first identified member of the TULP family of four proteins with unknown function. A spontaneous mutation in murine tub causes retinal degeneration, obesity, and deafness. Mutations in another member of the TULP family, TULP1, are a cause of autosomal recessive retinitis pigmentosa (RP).

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies.

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital

[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

OBJECTIVE To detect the disease-causing genes of 10 retinitis pigmentosa pedigrees by using exon combined target region capture sequencing chip. METHODS Pedigree investigation study. From October 2010 to December 2013, 10 RP pedigrees were recruited for this study in Ningxia Eye Hospital. All the

A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Three siblings with retinitis pigmentosa, deafness and mental retardation were studied. Physical abnormalities included nystagmus, acanthosis nigricans and multiple keloids. The two male siblings had gynecomastia, small testes and mild subvirilization whereas the only indication of hypogonadism in

Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly,

[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe

[Early therapeutic trials for retinitis pigmentosa].

רק משתמשים רשומים יכולים לתרגם מאמרים

התחבר הרשם

Non syndromic forms of Retinitis Pigmentosa (RP) constitute a collection of clinically and genetically heterogeneous inherited retinal degenerative diseases. They are characterized by a bilateral progressive visual loss susceptible to cause blindness. These diseases are transmitted through pedigrees

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