نتایج جستجو برای: genetic short stature

تعداد نتایج: 1022810  

2015
A Deeb O Afandi S Attia A El Fatih

UNLABELLED 3-M syndrome is a rare autosomal recessive disorder caused by mutations in the CUL7, OBSL1 and CCDC8 genes. It is characterised by growth failure, dysmorphic features and skeletal abnormalities. Data in the literature show variable efficacy of GH in the treatment of short stature. We report four Emirati siblings with the condition. The index case is a 10-year-old boy with characteris...

2006
Shirley Clark

........................................................................................................................................................................ 4 Introduction.................................................................................................................................................................... 6 Characterization .................................

2006
Shirley Clark

................................................................................................................................................................................ 4 Introduction ........................................................................................................................................................................... 6 Characterization..................

Journal: :Endocrinology and metabolism clinics of North America 2016
Christopher J Romero Lakshmi Mehta Robert Rapaport

Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influ...

Journal: :Genetics and molecular research : GMR 2011
R K N Pestana E P Amorim C F Ferreira V B O Amorim L S Oliveira C A S Ledo S O Silva

Bananas are among the most important fruit crops worldwide, being cultivated in more than 120 countries, mainly by small-scale producers. However, short-stature high-yielding bananas presenting good agronomic characteristics are hard to find. Consequently, wind continues to damage a great number of plantations each year, leading to lodging of plants and bunch loss. Development of new culti...

Journal: :Annales Nestlé (English ed.) 2007

Journal: :Western Journal of Medicine 2002

Journal: :Italian Journal of Pediatrics 2015

2015
Tinka HOVNIK Darja ŠMIGOC SCHWEIGER Primož KOTNIK Jernej KOVAČ Tadej BATTELINO Katarina TREBUŠAK PODKRAJŠEK

BACKGROUND The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations i...

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