ARX spectrum disorders: making inroads into the molecular pathology
The Aristaless‐related homeobox gene (ARX) is one of the most frequently mutated genes
in a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as their cardinal …
in a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as their cardinal …
An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management
DE Weese-Mayer, EM Berry-Kravis… - American journal of …, 2010 - atsjournals.org
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
alveolar hypoventilation and autonomic dysregulation. Purpose:(1) To demonstrate the …
alveolar hypoventilation and autonomic dysregulation. Purpose:(1) To demonstrate the …
Phox2b, congenital central hypoventilation syndrome and the control of respiration
C Goridis, V Dubreuil, M Thoby-Brisson, G Fortin… - Seminars in cell & …, 2010 - Elsevier
Neural networks in the hindbrain generate the pattern of motor activity that sustains
breathing in mammals. Over the last years, increasing knowledge of the development and …
breathing in mammals. Over the last years, increasing knowledge of the development and …
[HTML][HTML] PHOX2B-Mediated Regulation of ALK Expression: In Vitro Identification of a Functional Relationship between Two Genes Involved in Neuroblastoma
T Bachetti, D Di Paolo, S Di Lascio, V Mirisola… - PloS one, 2010 - journals.plos.org
Background Neuroblastoma (NB) is a severe pediatric tumor originating from neural crest
derivatives and accounting for 15% of childhood cancer mortality. The heterogeneous and …
derivatives and accounting for 15% of childhood cancer mortality. The heterogeneous and …
Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation
MS Carroll, PP Patwari… - Journal of applied …, 2010 - journals.physiology.org
Respiratory and autonomic disorders of infancy, childhood, and adulthood are a group of
disorders that have varying presentation, combined with a range of severity of respiratory …
disorders that have varying presentation, combined with a range of severity of respiratory …