Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2912, listelenen: 2398-2417
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Specific Podocin Mutations Correlate With Age Of Onset In Steroid-Resistant Nephrotic Syndrome
(Amer Soc Nephrology, 2008)Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of ... -
Spectrum And Clinical Implications Of Syntaxin 11 Gene Mutations In Familial Haemophagocytic Lymphohistiocytosis: Association With Disease-Free Remissions And Haematopoietic Malignancies
(Bmj Publishing Group, 2006)Objective: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation ... -
Spectrum Of Brain Changes In Patients With Congenital Muscular Dystrophy And Fkrp Gene Mutations
(Amer Medical Assoc, 2006)Objectives: To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible geno type-phenotype correlations. Design: ... -
Spectrum Of Imaging Findings In Pediatric Hydatid Disease
(Amer Roentgen Ray Soc, 1997) -
Spectrum Of Mutations In The Fanconi Anaemia Group G Gene, Fancg/Xrcc9
(Nature Publishing Group, 2000)FANCG was the third Faconi anaemia gene identified and proved to be identical to the previously cloned XRCC9 gene. We present the pathogenic mutations and sequence variants we have so far identified in a panel of FA-C ... -
Spectrum Of Perforin Gene Mutations In Familial Hemophagocytic Lymphohistiocytosis
(Cell Press, 2001)Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ... -
Speech Delay In Toddlers: Are They Only "Late Talkers"?
(Turkish J Pediatrics, 2018)Speech delay is prevalent in toddlers. Although some children with speech delay are able to catch up with their peers with time, the delay might be part of a broader condition such as global developmental delay, which ... -
Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy
(Cell Press, 2014)Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ... -
Spinal Cord Involvement In A Child With Familial Hemophagocytic Lymphohistiocytosis
(2012)The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented ... -
Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1
(Cell Press, 2012)Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ... -
Spinal Myeloid Sarcoma In Two Non-Leukemic Patients
(Japan Soc Internal Medicine, 2010)Myeloid sarcoma, formerly termed granulocytic sarcoma or chloroma, consists of neoplastic granulocytic precursors and myeloblasts. Isolated chloromas (granulocytic sarcomas) are rare tumors. Spinal complications of chloromas, ... -
Splenic Anomalies Of Shape, Size, And Location: Pictorial Essay
(2013)Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen ... -
Splenic Artery Embolization With Ankaferd Blood Stopper In A Sheep Model
(Aves, 2016)PURPOSE Splenic artery embolization is a minimally invasive therapeutic procedure utilized in a number of disorders. Ankaferd blood stopper (ABS) is a novel hemostatic agent with a new mechanism of action independent of ... -
Splenic Artery Embolization: An Alternative Approach In A Critically Ill Patient With Autoimmune Hemolytic Anemia
(Aves Yayincilik, 2011)Assessment of general health status and hematological parameters usually precedes the use of invasive diagnostic and therapeutic procedures in critically ill patients. Angiography can be effective and safe as a substitute ... -
Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences
(Cell Press, 1999)Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ... -
Squalenoyl Adenosine Nanoparticles Provide Neuroprotection After Stroke And Spinal Cord Injury
(2014)There is an urgent need to develop new therapeutic approaches for the treatment of severe neurological trauma, such as stroke and spinal cord injuries. However, many drugs with potential neuropharmacological activity, like ... -
Stability Of Adrenocortical Steroidogenesis Over Time In Healthy Women And Women With Polycystic Ovary Syndrome
(Endocrine Soc, 2004)Adrenocortical secretion is up-regulated in women with polycystic ovary syndrome (PCOS), and absolute adrenal androgen (AA) excess is evident in similar to25% of these patients. We hypothesized that AA biosynthesis is an ...