Familial dysautonomia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Familial dysautonomia" in English language version.

refsWebsite

Global rank English rank

12nih.gov

4^th place

8doi.org

2^nd place

5worldcat.org

5^th place

4web.archive.org

1^st place

3semanticscholar.org

11^th place

8^th place

2familialdysautonomia.org

low place

2harvard.edu

18^th place

17^th place

1pediatriconcall.com

low place

1rarediseases.org

5,181^st place

3,260^th place

1orpha.net

3,537^th place

7,177^th place

1jpeds.com

low place

1medscape.com

719^th place

636^th place

1nature.com

234^th place

397^th place

1nyu.edu

1,174^th place

773^rd place

1sheba.co.il

low place

1forward.com

1,344^th place

796^th place

doi.org

Riley CM, Day RL, Greely D, Langford WS (1949). "Central autonomic dysfunction with defective lacrimation". Pediatrics. 3 (4): 468–77. doi:10.1542/peds.3.4.468. PMID 18118947. S2CID 245200408.
Axelrod FB (2002). "Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs". Clin Auton Res. 12. Suppl 1 (7): I2–14. doi:10.1007/s102860200014. PMID 12102459. S2CID 44306353.
Portnoy, Sigal; Maayan, Channa; Tsenter, Jeanna; Ofran, Yonah; Goldman, Vladimir; Hiller, Nurit; Karniel, Naama; Schwartz, Isabella (2018-04-26). "Characteristics of ataxic gait in familial dysautonomia patients". PLOS ONE. 13 (4): e0196599. Bibcode:2018PLoSO..1396599P. doi:10.1371/journal.pone.0196599. ISSN 1932-6203. PMC 5919612. PMID 29698477.
Axelrod, Felicia B.; Leistner, Hedi L.; Porges, Robert F. (1974-01-01). "Breech presentation among infants with familial dysautonomia". The Journal of Pediatrics. 84 (1): 107–109. doi:10.1016/S0022-3476(74)80564-0. ISSN 0022-3476. PMID 12119926.
Mostello, D.; Chang, J. J.; Bai, F.; Wang, J.; Guild, C.; Stamps, K.; Leet, T. L. (January 2014). "Breech presentation at delivery: a marker for congenital anomaly?". Journal of Perinatology. 34 (1): 11–15. doi:10.1038/jp.2013.132. ISSN 1476-5543. PMID 24157495. S2CID 21579907.
Blumenfeld, Anat; Slaugenhaupt, Susan A.; Axelrod, Felicia B.; Lucente, Diane E.; Maayan, Channa; Liebert, Christopher B.; Ozelius, Laurie J.; Trofatter, James A.; Haines, Jonathan L.; Breakefield, Xandra O.; Gusella, James F. (June 1993). "Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis". Nature Genetics. 4 (2): 160–164. doi:10.1038/ng0693-160. ISSN 1546-1718. PMID 8102296.
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY (2001). "Familial dysautonomia is caused by mutations of the IKAP gene". Am J Hum Genet. 68 (3): 753–8. doi:10.1086/318808. PMC 1274486. PMID 11179021.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF (2001). "Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia". Am J Hum Genet. 68 (3): 598–605. doi:10.1086/318810. PMC 1274473. PMID 11179008.

familialdysautonomia.org

"FD History & Statistics – Dysautonomia Foundation - Familial Dysautonomia (FD)". Archived from the original on 2009-04-18. Retrieved 2009-04-02.
Benefits for people with FD Archived 2011-07-26 at the Wayback Machine – from Dysautonomia foundation

forward.com

"San Francisco To Get a Genetics Center – Forward.com". 5 August 2005. Retrieved 2007-11-02.

harvard.edu

health.harvard.edu

Publishing, Harvard Health (21 December 2018). "Familial Dysautonomia". Harvard Health. Retrieved 2020-05-30.

ui.adsabs.harvard.edu

Portnoy, Sigal; Maayan, Channa; Tsenter, Jeanna; Ofran, Yonah; Goldman, Vladimir; Hiller, Nurit; Karniel, Naama; Schwartz, Isabella (2018-04-26). "Characteristics of ataxic gait in familial dysautonomia patients". PLOS ONE. 13 (4): e0196599. Bibcode:2018PLoSO..1396599P. doi:10.1371/journal.pone.0196599. ISSN 1932-6203. PMC 5919612. PMID 29698477.

jpeds.com

Axelrod, Felicia B.; Leistner, Hedi L.; Porges, Robert F. (1974-01-01). "Breech presentation among infants with familial dysautonomia". The Journal of Pediatrics. 84 (1): 107–109. doi:10.1016/S0022-3476(74)80564-0. ISSN 0022-3476. PMID 12119926.

medscape.com

emedicine.medscape.com

"Familial Dysautonomia Workup: Laboratory Studies". emedicine.medscape.com. Retrieved 2020-05-31.

nature.com

Blumenfeld, Anat; Slaugenhaupt, Susan A.; Axelrod, Felicia B.; Lucente, Diane E.; Maayan, Channa; Liebert, Christopher B.; Ozelius, Laurie J.; Trofatter, James A.; Haines, Jonathan L.; Breakefield, Xandra O.; Gusella, James F. (June 1993). "Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis". Nature Genetics. 4 (2): 160–164. doi:10.1038/ng0693-160. ISSN 1546-1718. PMID 8102296.

nih.gov

pubmed.ncbi.nlm.nih.gov

Riley CM, Day RL, Greely D, Langford WS (1949). "Central autonomic dysfunction with defective lacrimation". Pediatrics. 3 (4): 468–77. doi:10.1542/peds.3.4.468. PMID 18118947. S2CID 245200408.
Axelrod FB (2002). "Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs". Clin Auton Res. 12. Suppl 1 (7): I2–14. doi:10.1007/s102860200014. PMID 12102459. S2CID 44306353.
Portnoy, Sigal; Maayan, Channa; Tsenter, Jeanna; Ofran, Yonah; Goldman, Vladimir; Hiller, Nurit; Karniel, Naama; Schwartz, Isabella (2018-04-26). "Characteristics of ataxic gait in familial dysautonomia patients". PLOS ONE. 13 (4): e0196599. Bibcode:2018PLoSO..1396599P. doi:10.1371/journal.pone.0196599. ISSN 1932-6203. PMC 5919612. PMID 29698477.
Axelrod, Felicia B.; Leistner, Hedi L.; Porges, Robert F. (1974-01-01). "Breech presentation among infants with familial dysautonomia". The Journal of Pediatrics. 84 (1): 107–109. doi:10.1016/S0022-3476(74)80564-0. ISSN 0022-3476. PMID 12119926.
Mostello, D.; Chang, J. J.; Bai, F.; Wang, J.; Guild, C.; Stamps, K.; Leet, T. L. (January 2014). "Breech presentation at delivery: a marker for congenital anomaly?". Journal of Perinatology. 34 (1): 11–15. doi:10.1038/jp.2013.132. ISSN 1476-5543. PMID 24157495. S2CID 21579907.
Blumenfeld, Anat; Slaugenhaupt, Susan A.; Axelrod, Felicia B.; Lucente, Diane E.; Maayan, Channa; Liebert, Christopher B.; Ozelius, Laurie J.; Trofatter, James A.; Haines, Jonathan L.; Breakefield, Xandra O.; Gusella, James F. (June 1993). "Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis". Nature Genetics. 4 (2): 160–164. doi:10.1038/ng0693-160. ISSN 1546-1718. PMID 8102296.
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY (2001). "Familial dysautonomia is caused by mutations of the IKAP gene". Am J Hum Genet. 68 (3): 753–8. doi:10.1086/318808. PMC 1274486. PMID 11179021.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF (2001). "Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia". Am J Hum Genet. 68 (3): 598–605. doi:10.1086/318810. PMC 1274473. PMID 11179008.

ncbi.nlm.nih.gov

Portnoy, Sigal; Maayan, Channa; Tsenter, Jeanna; Ofran, Yonah; Goldman, Vladimir; Hiller, Nurit; Karniel, Naama; Schwartz, Isabella (2018-04-26). "Characteristics of ataxic gait in familial dysautonomia patients". PLOS ONE. 13 (4): e0196599. Bibcode:2018PLoSO..1396599P. doi:10.1371/journal.pone.0196599. ISSN 1932-6203. PMC 5919612. PMID 29698477.
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY (2001). "Familial dysautonomia is caused by mutations of the IKAP gene". Am J Hum Genet. 68 (3): 753–8. doi:10.1086/318808. PMC 1274486. PMID 11179021.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF (2001). "Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia". Am J Hum Genet. 68 (3): 598–605. doi:10.1086/318810. PMC 1274473. PMID 11179008.

ghr.nlm.nih.gov

Reference, Genetics Home. "Familial dysautonomia". Genetics Home Reference. Retrieved 2020-05-30.

nyu.edu

med.nyu.edu

Dysautonomia Treatment and Evaluation Center Archived 2006-01-14 at the Wayback Machine

orpha.net

"Orphanet: Familial dysautonomia". www.orpha.net. Retrieved 2020-05-31.

pediatriconcall.com

pediatriconcall.com Archived 2007-04-30 at the Wayback Machine

rarediseases.org

"Dysautonomia, Familial". NORD (National Organization for Rare Disorders). Retrieved 2020-05-31.

semanticscholar.org

api.semanticscholar.org

Riley CM, Day RL, Greely D, Langford WS (1949). "Central autonomic dysfunction with defective lacrimation". Pediatrics. 3 (4): 468–77. doi:10.1542/peds.3.4.468. PMID 18118947. S2CID 245200408.
Axelrod FB (2002). "Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs". Clin Auton Res. 12. Suppl 1 (7): I2–14. doi:10.1007/s102860200014. PMID 12102459. S2CID 44306353.
Mostello, D.; Chang, J. J.; Bai, F.; Wang, J.; Guild, C.; Stamps, K.; Leet, T. L. (January 2014). "Breech presentation at delivery: a marker for congenital anomaly?". Journal of Perinatology. 34 (1): 11–15. doi:10.1038/jp.2013.132. ISSN 1476-5543. PMID 24157495. S2CID 21579907.

sheba.co.il

eng.sheba.co.il

Sheba Medical Center

web.archive.org

pediatriconcall.com Archived 2007-04-30 at the Wayback Machine
Dysautonomia Treatment and Evaluation Center Archived 2006-01-14 at the Wayback Machine
"FD History & Statistics – Dysautonomia Foundation - Familial Dysautonomia (FD)". Archived from the original on 2009-04-18. Retrieved 2009-04-02.
Benefits for people with FD Archived 2011-07-26 at the Wayback Machine – from Dysautonomia foundation

worldcat.org

search.worldcat.org

Neonatal and infant dermatology. Eichenfield, Lawrence F.,, Frieden, Ilona J.,, Mathes, Erin F.,, Zaenglein, Andrea L. (Third ed.). London. 5 September 2014. ISBN 978-1-4557-2639-4. OCLC 885376300.{{cite book}}: CS1 maint: location missing publisher (link) CS1 maint: others (link)
Portnoy, Sigal; Maayan, Channa; Tsenter, Jeanna; Ofran, Yonah; Goldman, Vladimir; Hiller, Nurit; Karniel, Naama; Schwartz, Isabella (2018-04-26). "Characteristics of ataxic gait in familial dysautonomia patients". PLOS ONE. 13 (4): e0196599. Bibcode:2018PLoSO..1396599P. doi:10.1371/journal.pone.0196599. ISSN 1932-6203. PMC 5919612. PMID 29698477.
Axelrod, Felicia B.; Leistner, Hedi L.; Porges, Robert F. (1974-01-01). "Breech presentation among infants with familial dysautonomia". The Journal of Pediatrics. 84 (1): 107–109. doi:10.1016/S0022-3476(74)80564-0. ISSN 0022-3476. PMID 12119926.
Mostello, D.; Chang, J. J.; Bai, F.; Wang, J.; Guild, C.; Stamps, K.; Leet, T. L. (January 2014). "Breech presentation at delivery: a marker for congenital anomaly?". Journal of Perinatology. 34 (1): 11–15. doi:10.1038/jp.2013.132. ISSN 1476-5543. PMID 24157495. S2CID 21579907.
Blumenfeld, Anat; Slaugenhaupt, Susan A.; Axelrod, Felicia B.; Lucente, Diane E.; Maayan, Channa; Liebert, Christopher B.; Ozelius, Laurie J.; Trofatter, James A.; Haines, Jonathan L.; Breakefield, Xandra O.; Gusella, James F. (June 1993). "Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis". Nature Genetics. 4 (2): 160–164. doi:10.1038/ng0693-160. ISSN 1546-1718. PMID 8102296.