نتایج جستجو برای: shprintzen syndrome

تعداد نتایج: 621913  

Journal: :Current opinion in pediatrics 2000
R J Shprintzen

Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome lo...

1997
Wee-Liang Tan Ravinder Zutshi

Venture capital industry in Singapore is of recent origin. However, funds under management in Singapore have grown from S$ 45 million in 1983 to S$ 7300 million in 1995. These developments together with the recent announcement of government’s vision of Singapore becoming a hub for venture capital in the region, provides an opportunity for an examination of the venture capital industry in Singap...

2016
Seok-Gu Kang Joon-Ki Kang

Craniosynostosis has a varied clinical spectrum, ranging from isolated single suture involvement to multi-sutural fusions. Greater understanding of the pathogenesis of craniosynostosis has led to the development of practical treatment protocols. Three stages of growth have determined the approach to managing craniosynostosis : the early period, up to 12 months; the intermediate period, from 1 t...

Journal: :The Journal of pediatrics 2002
Bronwyn Glaser Donna L Mumme Christine Blasey Michael A Morris Sophie P Dahoun Stylianos E Antonarakis Allan L Reiss Stephan Eliez

OBJECTIVE To further define the language profile of children with velocardiofacial syndrome (VCFS) and explore the influence of parental origin of the deletion on language. STUDY DESIGN Children and adolescents with VCFS (n = 27) were group-matched for sex, age, and IQ with 27 children and adolescents with idiopathic developmental delay. Fifty-four typically developing control subjects were a...

Journal: :Human mutation 2008
Chantal Stheneur Gwenaëlle Collod-Béroud Laurence Faivre Laurent Gouya Gilles Sultan Jean-Marie Le Parc Bertrand Moura David Attias Christine Muti Marc Sznajder Mireille Claustres Claudine Junien Clarisse Baumann Valérie Cormier-Daire Marlène Rio Stanislas Lyonnet Henri Plauchu Didier Lacombe Bertrand Chevallier Guillaume Jondeau Catherine Boileau

TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our labora...

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