نتایج جستجو برای: seip

تعداد نتایج: 176  

2016
Vishal V Tewari Ritu Mehta Kunal Tewari

Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...

2008
Daniel Abreu LUÍS DANIEL ABREU

The Fourier transforms of Laguerre functions play the same canonical role in wavelet analysis as do the Hermite functions in Gabor analysis. We will use them as analyzing wavelets in a similar way the Hermite functions were recently by Gröchenig and Lyubarskii in Gabor frames with Hermite functions, C. R. Acad. Sci. Paris, Ser. I 344 157-162 (2007). Building on Seip ́s work Beurling type density...

2017
Jessica M Kornke Markus Maniak

Triacylglycerol is a universal storage molecule for metabolic energy in living organisms. However, Dictyostelium amoebae, that have accumulated storage fat from added fatty acids do not progress through the starvation period preceding the development of the durable spore. Mutants deficient in genes of fat metabolism, such as fcsA, encoding a fatty acid activating enzyme, or dgat1 and dgat2, spe...

Journal: :genetics in the 3rd millennium 0
pooneh nikuei kianoosh malekzadeh minoo rajaei yousef shafeghati

congenital generalized lipodystrophies (cgls) are very rare autosomal recessive disorders which have four types.of the four cgl types, bscl2 (berardinelli–seip congenital lipodystrophy type 2) is the result of mutations in the bscl2/seipingene.bscl2 which is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth,acanthosisnigricans, hepatomegaly, insu...

Journal: :Journal of the Formosan Medical Association = Taiwan yi zhi 2001
I H Lee H L Chen Y M Jeng M T Cheng L Y Tsao M H Chang

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subc...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2011
Cristiane B Barra Roberta D Savoldelli Thais D Manna Chong A Kim Jocelyn Magre Gilda Porta Nuvarte Setian Durval Damiani

OBJECTIVE To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP. SUBJECTS AND METHODS Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed. RESULTS Lep...

2017
Pooneh Nikuei Kianoosh Malekzadeh Minoo Rajaei Yousef Shafeghati

Congenital generalized lipodystrophies (CGLs) are very rare autosomal recessive disorders which have four types. Of the four CGL types, BSCL2 (Berardinelli–Seip Congenital lipodystrophy type 2) is the result of mutations in the BSCL2/seipin gene. BSCL2 that is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth, acanthosis nigricans, hepatomegaly, ...

Journal: :Transactions of the American Mathematical Society 2021

In every dimension $d \geq 2$, we give an explicit formula that expresses the values of any Schwartz function on $\mathbb {R}^d$ only in terms its restrictions, and restrictions Fourier transform, to all origin-centered spheres whose radius is square root integer. We thus generalize interpolation theorem by Radchenko Viazovska [Publ. Math. Inst. Hautes Études Sci. 129 (2019), pp. 51–81] high...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید