Results 101 to 110 of about 1,912 (196)

Alstrom syndrome in two siblings.

Journal of the Formosan Medical Association = Taiwan yi zhi, 2001
Alstrom syndrome is a very rare autosomal recessive inherited disorder. Only 50 cases have been reported since the syndrome was first described in 1959. This syndrome is characterized by obesity, impaired glucose tolerance with insulin resistance, retinal degeneration, neurosensory deafness, acanthosis nigricans, hepatic dysfunction, and some endocrine
Y J, Hung, C, Jeng, D, Pei, P I, Chou, D A, Wu   +4 more
openaire   +1 more source

Hypertriglyceridaemia in Alstrom\u27s syndrome: causes and associations in 37 cases. [PDF]

, 2004
OBJECTIVE: To document frequency of severe hypertriglyceridaemia in Alstrom\u27s syndrome (AS) and its relationship to hepatic and renal function, glycaemia and insulin resistance.
Mansell, P, Carey, C M, Bower, L, Maffei, P, Marshall, J, Taylor, P, Paisey, R B   +6 more
core   +1 more source

Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome. [PDF]

, 1998
The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alstrom syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon-intron structure of DCTN1 along with
Naggert, J K, Marshall, J D, Collin, G B, Nishina, P M   +3 more
core  

Novel Alu retrotransposon insertion leading to Alström syndrome [PDF]

, 2011
Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal ...
Jan D. Marshall, Taşkesen, Mustafa, R. Köksal Özgül, Alexei V. Evsikov, ÖZGÜL, RIZA KÖKSAL, Ozgul, R. Koksal, Evsikov, Alexei V., Marshall, Jan D., Gayle B. Collin, Güzel, Ayşegül, Ayşegül Güzel, Collin, Gayle B., Jürgen K. Naggert, Mustafa Taşkesen, Naggert, Juergen K., Özgül, Rıza Köksal   +15 more
core   +1 more source

Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. [PDF]

, 2011
Alstrom Syndrome is a life-threatening disease characterized primarily by numerous metabolic abnormalities, retinal degeneration, cardiomyopathy, kidney and liver disease, and sensorineural hearing loss.
Collin, G, Kelly, J, Marshall, J, Nevill, G, Longo, Guess C, Benson, J, Naggert, J, Jagger, D, Forge, A   +8 more
core  

[Alström-syndrome: a missed diagnosis with consequences] [PDF]

, 2003
BACKGROUND: Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss.
Baumeister, FA;Sadowski, B;Schmitz, T;Grübl, A
core   +1 more source

Cep164, a novel centriole appendage protein required for primary cilium formation [PDF]

, 2007
Primary cilia (PC) function as microtubule-based sensory antennae projecting from the surface of many eukaryotic cells. They play important roles in mechano- and chemosensory perception and their dysfunction is implicated in developmental disorders and ...
Graser, Susanne, Erich A. Nigg, Gassner, Oliver S., Gassner, O. S., Susanne Graser, Stierhof, Y. D., Lavoie, S. B., Stierhof, York-Dieter, Nigg, E. A., Sébastien B. Lavoie, Le Clech, M., Stefan Lamla, Graser, S., Nigg, Erich A., Lavoie, Sébastien B., York-Dieter Stierhof, Le Clech, Mikael, Oliver S. Gassner, Mikael Le Clech, Lamla, S., Lamla, Stefan   +20 more
core   +1 more source

Effect of metformin and rosiglitazone in a prepubertal boy with Alstrom syndrome. [PDF]

, 2007
Alstrom syndrome (AS) is an autosomal recessive disorder characterized by progressive pigmentary retinopathy, sensorineural hearing loss, fatty liver infiltration, obesity, insulin resistance and early-onset type 2 diabetes mellitus (DM2). Early onset
S. Ten, Naggert, J K, Ν. Maclaren, Collin, G B, H. Anhalt, Anhalt, H, J.D. Marshall, A. Bhangoo, J.K. Naggert, Sinha, S K, Bhangoo, A, Maclaren, N, Marshall, J D, Ten, S, G.B. Collin, S.K. Sinha   +15 more
core   +1 more source

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Journal of Medical Case Reports, 2011
Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D, Mihai Cristina M, Stoicescu Ramona M   +2 more
doaj   +1 more source

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Case Reports in Genetics, 2011
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Sheetal Sharda, Inusha Panigrahi, Ram Kumar Marwaha   +2 more
doaj   +1 more source