Klątwa Ondyny (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Klątwa Ondyny" in Polish language version.

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18nih.gov

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15doi.org

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1emedicine.com

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1atsjournals.org

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1egms.de

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atsjournals.org

Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. „Am J Respir Crit Care Med”. 170 (1), s. 16-21, 2004. DOI: 10.1164/rccm.200402-245PP. PMID: 15105164.

doi.org

Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, Chakravarti A. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. „Nat Genet”. 13 (4), s. 395-396, 1996. DOI: 10.1038/ng0896-395. PMID: 8696331.
Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A. Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. „Am J Med Genet”. 107, s. 306-310, 2002. DOI: 10.1002/ajmg.10133. PMID: 11840487.
de Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). „Hum Molec Genet”. 12, s. 3173-3180, 2003. DOI: 10.1093/hmg/ddg339. PMID: 14532329.
Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. „Am J Resp Crit Care Med”. 160, s. 368-373, 1999. DOI: 10.1164/ajrccm.160.1.16010. PMID: 10390427.
Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. „Am J Respir Crit Care Med”. 170 (1), s. 16-21, 2004. DOI: 10.1164/rccm.200402-245PP. PMID: 15105164.
O'Brien LM, Holbrook CR, Vanderlaan M, Amiel J, Gozal D. Autonomic function in children with congenital central hypoventilation syndrome and their families. „Chest”. 128 (4), s. 2478-84, 2005. DOI: 10.1378/chest.128.4.2478. PMID: 16236912.
Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E. Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. „Eur J Pediatr”. 152 (1), s. 75-7, 1993. DOI: 10.1007/BF02072522. PMID: 8444212.
Chen ML, Turkel SB, Jacobson JR, Keens TG. Alcohol use in congenital central hypoventilation syndrome. „Pediatr Pulmonol”. 41 (3), s. 283-5, 2006. DOI: 10.1002/ppul.20366. PMID: 16429433.
Weese-Mayer DE, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Maher BS, Cooper ME, Marazita ML. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. „Am J Med Genet”. 100 (3), s. 237-45, 2001. DOI: 10.1002/ajmg.1249. PMID: 11343310.
Nannapaneni R, Behari S, Todd NV, Mendelow AD. Retracing "Ondine's curse". „Neurosurgery”. 57 (2), s. 354–63, 2005. DOI: 10.1227/01.neu.0000166684.69422.49. PMID: 16094167.

dx.doi.org

ClaudeC. Gaultier ClaudeC. i inni, Genetics and early disturbances of breathing control, „Pediatric Research”, 55 (5), 2004, s. 729-33, DOI: 10.1203/01.PDR.0000115677.78759.C5, PMID: 14739359 .
ClaudeC. Gaultier ClaudeC. i inni, Pediatric disorders with autonomic dysfunction: what role for PHOX2B?, „Pediatric Research”, 58 (1), 2005, s. 1-6, DOI: 10.1203/01.PDR.0000166755.29277.C4, PMID: 15901893 .
Emily SE.S. Todd Emily SE.S., Seth MS.M. Weinberg Seth MS.M., Debra ED.E. Weese-Mayer Debra ED.E., Facial phenotype in children and young adults with ''PHOX2B''-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology, „Pediatric Research”, 59 (1), 2006, s. 39-45, DOI: 10.1203/01.pdr.0000191814.73340.1d, PMID: 16327002 .
JeanneJ. Amiel JeanneJ. i inni, Mutations of the RET-GDNF signaling pathway in Ondine's curse, „American Journal of Human Genetics”, 62 (3), 1996, s. 715-717, DOI: 10.1086/301759, PMID: 9497256, PMCID: PMC1376953 .
M.L.M.L. Chen M.L.M.L., T.G.T.G. Keens T.G.T.G., Congenital central hypoventilation syndrome: not just another rare disorder, „Paediatr Respir Rev”, 5 (3), 2004, s. 182-189, DOI: 10.1016/j.prrv.2004.04.009, PMID: 15276129 .

egms.de

Schäfer T. Respiratory pathophysiology: sleep-related breathing disorders. „GMS Curr Top Otorhinolaryngol Head Neck Surg”. 5, 2006.

emedicine.com

Terry Chin, Mariam M Ischander: Congenital Central Hypoventilation Syndrome. eMedicine Pediatrics. [dostęp 2007-10-28]. (ang.).

nih.gov

ncbi.nlm.nih.gov

ClaudeC. Gaultier ClaudeC. i inni, Genetics and early disturbances of breathing control, „Pediatric Research”, 55 (5), 2004, s. 729-33, DOI: 10.1203/01.PDR.0000115677.78759.C5, PMID: 14739359 .
ClaudeC. Gaultier ClaudeC. i inni, Pediatric disorders with autonomic dysfunction: what role for PHOX2B?, „Pediatric Research”, 58 (1), 2005, s. 1-6, DOI: 10.1203/01.PDR.0000166755.29277.C4, PMID: 15901893 .
Emily SE.S. Todd Emily SE.S., Seth MS.M. Weinberg Seth MS.M., Debra ED.E. Weese-Mayer Debra ED.E., Facial phenotype in children and young adults with ''PHOX2B''-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology, „Pediatric Research”, 59 (1), 2006, s. 39-45, DOI: 10.1203/01.pdr.0000191814.73340.1d, PMID: 16327002 .
JeanneJ. Amiel JeanneJ. i inni, Mutations of the RET-GDNF signaling pathway in Ondine's curse, „American Journal of Human Genetics”, 62 (3), 1996, s. 715-717, DOI: 10.1086/301759, PMID: 9497256, PMCID: PMC1376953 .
Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, Chakravarti A. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. „Nat Genet”. 13 (4), s. 395-396, 1996. DOI: 10.1038/ng0896-395. PMID: 8696331.
Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A. Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. „Am J Med Genet”. 107, s. 306-310, 2002. DOI: 10.1002/ajmg.10133. PMID: 11840487.
de Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). „Hum Molec Genet”. 12, s. 3173-3180, 2003. DOI: 10.1093/hmg/ddg339. PMID: 14532329.
Marazita ML, Berry-Kravis EM, Weese-Mayer DE. Congenital Central Hypoventilation Syndrome. „GeneReviews”, s. 2-3, 2004.
M.L.M.L. Chen M.L.M.L., T.G.T.G. Keens T.G.T.G., Congenital central hypoventilation syndrome: not just another rare disorder, „Paediatr Respir Rev”, 5 (3), 2004, s. 182-189, DOI: 10.1016/j.prrv.2004.04.009, PMID: 15276129 .
Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM. Idiopathic congenital central hypoventilation syndrome: diagnosis and management. „Am J Resp Crit Care Med”. 160, s. 368-373, 1999. DOI: 10.1164/ajrccm.160.1.16010. PMID: 10390427.
Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. „Am J Respir Crit Care Med”. 170 (1), s. 16-21, 2004. DOI: 10.1164/rccm.200402-245PP. PMID: 15105164.
O'Brien LM, Holbrook CR, Vanderlaan M, Amiel J, Gozal D. Autonomic function in children with congenital central hypoventilation syndrome and their families. „Chest”. 128 (4), s. 2478-84, 2005. DOI: 10.1378/chest.128.4.2478. PMID: 16236912.
Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E. Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. „Eur J Pediatr”. 152 (1), s. 75-7, 1993. DOI: 10.1007/BF02072522. PMID: 8444212.
Chen ML, Turkel SB, Jacobson JR, Keens TG. Alcohol use in congenital central hypoventilation syndrome. „Pediatr Pulmonol”. 41 (3), s. 283-5, 2006. DOI: 10.1002/ppul.20366. PMID: 16429433.
Weese-Mayer DE, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Maher BS, Cooper ME, Marazita ML. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. „Am J Med Genet”. 100 (3), s. 237-45, 2001. DOI: 10.1002/ajmg.1249. PMID: 11343310.
Mellins RB, Balfour HH Jr, Turino GM, Winters RW. Failure of automatic control of ventilation (Ondine's curse): report of an infant born with this syndrome and review of the literature. „Medicine”. 49, s. 487-504, 1970. PMID: 5286083.
Sugar O. In search of Ondine's Curse. „JAMA”. 240, s. 236-7, 1978. PMID: 351225.
Nannapaneni R, Behari S, Todd NV, Mendelow AD. Retracing "Ondine's curse". „Neurosurgery”. 57 (2), s. 354–63, 2005. DOI: 10.1227/01.neu.0000166684.69422.49. PMID: 16094167.