Ara
Toplam kayıt 468, listelenen: 171-180
Mutations In Arfgef2 Implicate Vesicle Trafficking In Neural Progenitor Proliferation And Migration In The Human Cerebral Cortex
(Nature Publishing Group, 2004)
Disruption of human neural precursor proliferation can give rise to a small brain ( microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative ...
Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms)
(Oxford Univ Press, 2008)
Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ...
Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis
(Univ Chicago Press, 2003)
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ...
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...
Physicians' Perception of Childhood Asthma in Turkey: More Appropriate Practice Among Female Physicians
(2008)
Background Low levels of asthma control worldwide point to the possibility of sub-optimal management; therefore, documentation of physicians' perception is critical for future interventions. Our aim was to examine self-reported ...
Pituitary Hypoplasia And Growth Hormone Deficiency In A Woman With Glycogen Storage Disease Type Ia: A Case Report
(2008)
Introduction Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, ...
Residual Type 1 Immunity In Patients Genetically Deficient For Interleukin 12 Receptor Β1 (Il-12Rβ1):Evidence for an IL-12Rb1–independent Pathway of IL-12 Responsiveness in Human T Cells
(2000)
Genetic lack of interleukin 12 receptor β1 (IL-12Rβ1) surface expression predisposes to severe infections by poorly pathogenic mycobacteria or Salmonella and causes strongly decreased, but not completely abrogated, interferon ...
Risk Of Recurrence After Drug Withdrawal in Childhood Epilepsy
(W B Saunders Co Ltd, 2009)
Objectives: After a reasonable seizure-free period, discontinuation of antiepileptic drugs (AED) is usually decided in epileptic patients despite the risk of seizure recurrence. In children, risk of recurrence after ...