نتایج جستجو برای: triple x syndrome

تعداد نتایج: 1235406  

Journal: :AIDS 2001
J A Bartlett R DeMasi J Quinn C Moxham F Rousseau

AIM To estimate the effectiveness of triple combination therapy in antiretroviral-naive adults. METHODS A systematic overview of results from clinical trials involving triple combination therapy with dual nucleoside reverse transcriptase inhibitors (NRTI) and: a protease inhibitor (PI triple); a non-nucleoside reverse transcriptase inhibitor (NNRTI triple); or a third NRTI (triple NUC). Data ...

Journal: :Human molecular genetics 2001
K Handschug S Sperling S J Yoon S Hennig A J Clark A Huebner

The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. The frequent association with a variety of neurological features may result in a severely disabling disease. We previously mapped the syndrome to a 6 cM interval on chromosome 12q13 and have now refined the critical region to 0 cM between KRT8 and D12S1651. O...

Journal: :Dalton transactions 2016
Elisabet Aguiló Raquel Gavara Clara Baucells Marta Guitart João Carlos Lima Jordi Llorca Laura Rodríguez

The synthesis of the cationic gold(i) complexes [Au(C[triple bond, length as m-dash]CC5H4N)(CH3-PTA)]X (X = I, 1; X = OTf, 4), [Au(C[triple bond, length as m-dash]CC5H4N-CH3)(PTA)]X (X = I, 2; X = OTf = 5; PTA = 1,3,5-triaza-7-phosphatricyclo[3.3.1.13.7]decane) and [Au(C[triple bond, length as m-dash]CC5H4N-CH3)(DAPTA)]X (X = I, 3; X = OTf = 6, DAPTA = 3,7-diacetyl-1,3,7-triaza-5-phosphabicyclo...

Journal: :Dalton transactions 2015
Yu-Mei Lin Zong-Jie Guan Kuan-Guan Liu Zhan-Guo Jiang Quan-Ming Wang

A convenient method for the synthesis of silver alkynyl compounds containing different nuclearities has been developed. The reaction of AgC[triple bond, length as m-dash]CBu(t) and AgX (X = CF3CO2(-), C2F5CO2(-)) in the presence of auxiliary ligands L (L = bipyridine, bipy; 1,10-phenanthroline, phen; 2-(diphenylphosphino)pyridine, dppy) under different conditions afforded a family of new silver...

Journal: :Ventana Indiscreta 2015

2012
Baran Parhizkar Nakisa Maghsoodi Mojgan Forootan Amir Hosein Entezari

Triple A syndrome (Allgrove syndrome) is a rare inherited autosomal recessive disease with a typical triad including adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia and a wide range of symptoms can be detected due to multi organ involvement. This report describes the case of a Triple Asyndrome, a12 year-old boy with a histo...

2009
Tony Huynh Ivan Mcgown Ohn Nyunt David Cowley Mark Harris Andrew M Cotterill Gary M Leong

Triple A Syndrome is an autosomal recessive neurodegenerative disorder characterised by central and peripheral nervous system disturbances, autonomic dysfunction, alacrima, achalasia, and ACTH-resistant adrenal insufficiency (1). It results from mutations in the AAAS gene located on 12q13 which encodes the WD-repeat protein ALADIN (2) (ALacrima Achalasia aDrenal Insufficiency Neurologic disorde...

Journal: :International Journal of Reproduction, Contraception, Obstetrics and Gynecology 2016

2013
Carla Bizzarri Danila Benevento Cesare Terzi Angela Huebner Marco Cappa

Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous sy...

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