نتایج جستجو برای: heterogeneous syndrome

تعداد نتایج: 740946  

2017
Kiminori Matsuyama Philip Ushchev

We characterize three classes of demand systems, all of which are defined non-parametrically: homothetic demand systems with a single aggregator (HSA), those with direct implicit additivity (HDIA), and those with indirect implicit additivity (HIIA). In HSA, all the cross-price effects are captured by one price aggregator, while in HDIA and in HIIA, they are captured by two price aggregators. Ea...

2010
Ernst Reinhardt

INHALT (Ziffern in Klammer hinter den Seitenzahlen verweisen auf die Heft-Nummer des 25Jg.)

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 2009
Eric K C Yau K Y Chan K M Au T C Chow Y W Chan

Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestati...

2012
Eun Ju Son Vânia Nosé

Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC) and follicular thyroid carcinomas comprise 95% of all thyroid malignancies. Familial follicular cell-derived well-differentiated thyroid cancers contribute 5% of cases. Such familial follicular cell-derived carcinomas or non-medullary thyroid carcinomas (NMTC) are divided into two clinical-pathological groups. The syndr...

Journal: :Blood 1975
Z Zeigler S Murphy F H Gardner

Three new patients with post-transfusion purpura (PTP) are described. As the manifestations in two differ significantly from those of previously reported cases, they serve to expand the definition of this syndrome. Although all 14 previously reported cases have occurred in Pl-A1-negative females, one of our patients was a Pl-A-negative male. Moreover, a female whose postrecovery platelets posse...

2014
Marta Romani Alessia Micalizzi Ichraf Kraoua Maria Teresa Dotti Mara Cavallin László Sztriha Rosario Ruta Francesca Mancini Tommaso Mazza Stefano Castellana Benrhouma Hanene Maria Alessandra Carluccio Francesca Darra Adrienn Máté Alíz Zimmermann Neziha Gouider-Khouja Enza Maria Valente

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patie...

Journal: :Molecular syndromology 2010
T Yagihashi K Hatori K Ishii C Torii S Momoshima T Takahashi K Kosaki

CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented with juvenile muscular atrophy of a unilateral upper extremity, a presumably heterogeneous condition that is also known as Hirayama disease. This association has not been previously described. Weakness and atrophy of the hands should be car...

Anahita Hamidi Laien, Azin Nikoozadeh, Fahimeh Alizadeh, Maliheh Afiat, Seyede Houra Mousavi Vahed, Zeynab Khademi,

Background: Ovarian fibroma is the most common benign solid tumor of the ovary. The most common symptoms are abdominal discomfort and pain. Ovarian fibroids are associated with Meigs syndrome in 1% to 10% of cases. The aim of study is report of a case of Meigs syndrome Case presentation: A 65-year-old menopausal woman who complained of abdominal pain was referred to our academic hospital of Ma...

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