Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
about
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Pontine mechanisms of respiratory controlPolyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansionCentral Alveolar Hypoventilation Syndromes.Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulationFunctional neuroanatomy and sleep-disordered breathing: implications for autonomic regulation.Average volume-assured pressure support in a 16-year-old girl with congenital central hypoventilation syndrome.Proceedings of the fourth international conference on central hypoventilation.Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster.A full term infant with cyanotic episodes. Congenital central hypoventilation syndrome.Update in sleep and control of ventilation 2006.Understanding the rhythm of breathing: so near, yet so far.Diagnostic practices and disease surveillance in Canadian children with congenital central hypoventilation syndrome.Central alveolar hypoventilation and failure to wean from the ventilator.Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Executive summary of respiratory indications for polysomnography in children: an evidence-based review.PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease.Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation.Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.Ethical considerations with the management of congenital central hypoventilation syndrome.Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.Late onset congenital central hypoventilation syndrome after exposure to general anesthesia.Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls.Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.Cardiovascular consequences of sleep apnea.Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report.
P2860
Q24682812-9A7465B6-347F-46DE-BF8A-76B39733D1C5Q26866162-44E9736D-B068-4A63-B768-851259F7EBBAQ28263308-2ACF3301-5870-4C87-A67E-FB0A927BA208Q30481073-79527146-84B6-4BF6-9DB0-DD0F2F64F12FQ33624831-7A3C8EB0-E713-4A10-8CC5-DA636CD596C7Q34360752-A14F76E2-553D-4A5D-ACD3-A85D97D0F684Q34458278-3013A9F3-A90B-47EF-8B27-D0A59FCABA4CQ34721441-C80BDC1D-4568-402E-8294-BA03A2837EC8Q35078009-1BAF219A-B64E-4AD7-A1A9-400B5884675DQ35768388-4FFC1316-A528-42D2-B189-896B7EE4FDDAQ35900894-C02D9200-D6DC-497E-AA81-784EDE646799Q35995335-848360BE-DA3A-4B1A-AC64-22D0C0BCADA0Q36736997-932003B5-512A-435F-BB9F-CD6E46CFE6A4Q36900418-17A6B781-E156-47C1-879B-1C488DB100E9Q37270955-FBB2CDAF-04D6-41FE-A6B9-22DC298A0222Q37474158-D97A176E-FB7E-411A-BF22-B35CAD96CD73Q37683245-27345B9D-350C-42D0-B3EE-548DD72BEA82Q37704064-25CDD002-AC59-43F9-8D8D-C074765AEA0EQ37848086-EF2DE2D4-16BA-487D-B885-C0B892139BB0Q37849639-90D269C8-6053-40F1-B228-7028C28E2967Q38110760-48A15A82-0463-4C6E-AAC3-F86FE747A7CEQ38800868-6571A781-BAE2-491A-B425-69DB41A0F786Q38844622-3E44A30E-F55E-4194-B52E-6249FD05A490Q41700743-E4423DB3-3681-43B7-BD91-4FC297FE1179Q42220786-C16FF5DB-5D85-4506-9D35-503D6D3A11C0Q44569978-9762DD95-A4C7-4528-84A7-A526C3B13AB1Q47664505-E2DB2C37-92DF-4F87-87E3-729A78A92A3DQ47749196-BC1C1FF8-2F83-48FF-8F30-923BADF54355Q47936860-50E1B109-E19E-427D-A85B-CC87793C8C49Q48032004-1F561CBF-CA7B-4E33-9BB3-750BAE13CF7FQ48134256-2A14217F-3979-444B-9E97-01EDFEC51299Q48223408-FFDADF15-FD64-4C70-91B5-730228948CE3Q48231587-815E0722-1EF7-46B9-8D65-17DB7ABB5123Q48252881-075208C1-BF38-4BB7-81DD-0B8DD4E68DFDQ48255127-DB13EAB7-E0BE-40D3-B549-BC05757CE015Q48262112-50B82813-7B37-40EE-8DFB-59FE805CD761Q48273157-08DBB063-81E1-4A31-A98E-65D8A0E159C7Q48275734-77D3ADB1-6BE1-4B75-9BAB-586F6A93D54FQ48316050-6E2BDE44-002C-4735-8618-A3D842AD644AQ48330990-1A30ED29-62FE-4633-A6A1-5F0C7771F3A4
P2860
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@en
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@nl
type
label
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@en
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@nl
prefLabel
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@en
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@nl
P2093
P1476
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
@en
P2093
Casey M Rand
Debra E Weese-Mayer
Elizabeth M Berry-Kravis
P304
P356
10.1164/RCCM.200602-305OC
P407
P577
2006-08-03T00:00:00Z