Sensenbrenner syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sensenbrenner syndrome" in English language version.

refsWebsite

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9nih.gov

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5doi.org

2^nd place

2semanticscholar.org

11^th place

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1bmj.com

1,226^th place

1,421^st place

bmj.com

jmg.bmj.com

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R (2011). "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome". J. Med. Genet. 48 (6): 390–5. doi:10.1136/jmg.2011.088864. PMID 21378380. S2CID 6073572.

doi.org

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW (2010). "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene". Am. J. Hum. Genet. 86 (6): 949–56. doi:10.1016/j.ajhg.2010.04.012. PMC 3032067. PMID 20493458.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R (2011). "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome". J. Med. Genet. 48 (6): 390–5. doi:10.1136/jmg.2011.088864. PMID 21378380. S2CID 6073572.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG (2010). "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome". Am. J. Hum. Genet. 87 (3): 418–23. doi:10.1016/j.ajhg.2010.08.004. PMC 2933349. PMID 20817137.
Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E (2009). "Cranioectodermal dysplasia: a probable ciliopathy". Am. J. Med. Genet. A. 149A (10): 2206–11. doi:10.1002/ajmg.a.33013. PMID 19760621. S2CID 31080779.
Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A (2009). "Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4". Dev. Biol. 325 (1): 225–37. doi:10.1016/j.ydbio.2008.10.020. PMC 2645042. PMID 19000668.

nih.gov

pubmed.ncbi.nlm.nih.gov

Sensenbrenner JA, Dorst JP, Owens RP (1975). "New syndrome of skeletal, dental and hair anomalies". Birth Defects Orig. Artic. Ser. 11 (2): 372–9. PMID 1227553.
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW (2010). "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene". Am. J. Hum. Genet. 86 (6): 949–56. doi:10.1016/j.ajhg.2010.04.012. PMC 3032067. PMID 20493458.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R (2011). "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome". J. Med. Genet. 48 (6): 390–5. doi:10.1136/jmg.2011.088864. PMID 21378380. S2CID 6073572.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG (2010). "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome". Am. J. Hum. Genet. 87 (3): 418–23. doi:10.1016/j.ajhg.2010.08.004. PMC 2933349. PMID 20817137.
Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E (2009). "Cranioectodermal dysplasia: a probable ciliopathy". Am. J. Med. Genet. A. 149A (10): 2206–11. doi:10.1002/ajmg.a.33013. PMID 19760621. S2CID 31080779.
Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A (2009). "Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4". Dev. Biol. 325 (1): 225–37. doi:10.1016/j.ydbio.2008.10.020. PMC 2645042. PMID 19000668.

ncbi.nlm.nih.gov

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW (2010). "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene". Am. J. Hum. Genet. 86 (6): 949–56. doi:10.1016/j.ajhg.2010.04.012. PMC 3032067. PMID 20493458.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG (2010). "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome". Am. J. Hum. Genet. 87 (3): 418–23. doi:10.1016/j.ajhg.2010.08.004. PMC 2933349. PMID 20817137.
Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A (2009). "Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4". Dev. Biol. 325 (1): 225–37. doi:10.1016/j.ydbio.2008.10.020. PMC 2645042. PMID 19000668.

semanticscholar.org

api.semanticscholar.org

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R (2011). "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome". J. Med. Genet. 48 (6): 390–5. doi:10.1136/jmg.2011.088864. PMID 21378380. S2CID 6073572.
Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E (2009). "Cranioectodermal dysplasia: a probable ciliopathy". Am. J. Med. Genet. A. 149A (10): 2206–11. doi:10.1002/ajmg.a.33013. PMID 19760621. S2CID 31080779.