De Barsy syndrome (English Wikipedia)

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

refsWebsite

Global rank English rank

10nih.gov

4^th place

7doi.org

2^nd place

4semanticscholar.org

11^th place

8^th place

2orpha.net

3,537^th place

7,177^th place

2worldcat.org

5^th place

1cigna.com

low place

1rarediseases.org

5,181^st place

3,260^th place

cigna.com

"De Barsy Syndrome". Cigna. Retrieved 2011-08-14.

doi.org

Morava E, Guillard M, Lefeber DJ, Wevers RA (September 2009). "Autosomal recessive cutis laxa syndrome revisited". European Journal of Human Genetics. 17 (9): 1099–110. doi:10.1038/ejhg.2009.22. PMC 2986595. PMID 19401719.
Lin, Dar-Shong; Chang, Jui-Hsing; Liu, Hsuan-Liang; Wei, Chin-Hung; Yeung, Chun-Yan; Ho, Che-Sheng; Shu, Chyong-Hsin; Chiang, Ming-Fu; Chuang, Chih-Kuang; Huang, Yu-Wen; Wu, Tsu-Yen; Jian, Yuan-Ren; Huang, Zon-Darr; Lin, Shuan-Pei (December 2011). "Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome". American Journal of Medical Genetics. Part A. 155A (12): 3095–3099. doi:10.1002/ajmg.a.34326. ISSN 1552-4833. PMID 22052856. S2CID 5162012.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G (April 2008). "De Barsy syndrome: a review of the phenotype". Clinical Dysmorphology. 17 (2): 99–107. doi:10.1097/MCD.0b013e3282f4a964. PMID 18388779. S2CID 42619228.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J (May 2010). "De Barsy syndrome and ATP6V0A2-CDG". European Journal of Human Genetics. 18 (5): 526, author reply 526. doi:10.1038/ejhg.2009.218. PMC 2987315. PMID 20010974.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, et al. (September 2015). "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa". American Journal of Human Genetics. 97 (3): 483–92. doi:10.1016/j.ajhg.2015.08.001. PMC 4564990. PMID 26320891.
Warner, Lindsay L.; Olsen, David A.; Smith, Hugh M. (January 2018). "Clinical implications of de Barsy syndrome". Pediatric Anesthesia. 28 (1): 59–62. doi:10.1111/pan.13283. ISSN 1460-9592. PMID 29148179. S2CID 20004342.

nih.gov

pubmed.ncbi.nlm.nih.gov

Morava E, Guillard M, Lefeber DJ, Wevers RA (September 2009). "Autosomal recessive cutis laxa syndrome revisited". European Journal of Human Genetics. 17 (9): 1099–110. doi:10.1038/ejhg.2009.22. PMC 2986595. PMID 19401719.
Lin, Dar-Shong; Chang, Jui-Hsing; Liu, Hsuan-Liang; Wei, Chin-Hung; Yeung, Chun-Yan; Ho, Che-Sheng; Shu, Chyong-Hsin; Chiang, Ming-Fu; Chuang, Chih-Kuang; Huang, Yu-Wen; Wu, Tsu-Yen; Jian, Yuan-Ren; Huang, Zon-Darr; Lin, Shuan-Pei (December 2011). "Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome". American Journal of Medical Genetics. Part A. 155A (12): 3095–3099. doi:10.1002/ajmg.a.34326. ISSN 1552-4833. PMID 22052856. S2CID 5162012.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G (April 2008). "De Barsy syndrome: a review of the phenotype". Clinical Dysmorphology. 17 (2): 99–107. doi:10.1097/MCD.0b013e3282f4a964. PMID 18388779. S2CID 42619228.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J (May 2010). "De Barsy syndrome and ATP6V0A2-CDG". European Journal of Human Genetics. 18 (5): 526, author reply 526. doi:10.1038/ejhg.2009.218. PMC 2987315. PMID 20010974.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, et al. (September 2015). "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa". American Journal of Human Genetics. 97 (3): 483–92. doi:10.1016/j.ajhg.2015.08.001. PMC 4564990. PMID 26320891.
Warner, Lindsay L.; Olsen, David A.; Smith, Hugh M. (January 2018). "Clinical implications of de Barsy syndrome". Pediatric Anesthesia. 28 (1): 59–62. doi:10.1111/pan.13283. ISSN 1460-9592. PMID 29148179. S2CID 20004342.

ncbi.nlm.nih.gov

Morava E, Guillard M, Lefeber DJ, Wevers RA (September 2009). "Autosomal recessive cutis laxa syndrome revisited". European Journal of Human Genetics. 17 (9): 1099–110. doi:10.1038/ejhg.2009.22. PMC 2986595. PMID 19401719.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J (May 2010). "De Barsy syndrome and ATP6V0A2-CDG". European Journal of Human Genetics. 18 (5): 526, author reply 526. doi:10.1038/ejhg.2009.218. PMC 2987315. PMID 20010974.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, et al. (September 2015). "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa". American Journal of Human Genetics. 97 (3): 483–92. doi:10.1016/j.ajhg.2015.08.001. PMC 4564990. PMID 26320891.

orpha.net

INSERM US14. "Orphanet: De Barsy syndrome". www.orpha.net. Retrieved 24 October 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
"De Barsy syndrome". Orphanet. July 2010. Retrieved September 26, 2023.

rarediseases.org

Morava, Eva (September 22, 2015). "De Barsy Syndrome". NORD – National Organization for Rare Disorders.

semanticscholar.org

api.semanticscholar.org

Lin, Dar-Shong; Chang, Jui-Hsing; Liu, Hsuan-Liang; Wei, Chin-Hung; Yeung, Chun-Yan; Ho, Che-Sheng; Shu, Chyong-Hsin; Chiang, Ming-Fu; Chuang, Chih-Kuang; Huang, Yu-Wen; Wu, Tsu-Yen; Jian, Yuan-Ren; Huang, Zon-Darr; Lin, Shuan-Pei (December 2011). "Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome". American Journal of Medical Genetics. Part A. 155A (12): 3095–3099. doi:10.1002/ajmg.a.34326. ISSN 1552-4833. PMID 22052856. S2CID 5162012.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G (April 2008). "De Barsy syndrome: a review of the phenotype". Clinical Dysmorphology. 17 (2): 99–107. doi:10.1097/MCD.0b013e3282f4a964. PMID 18388779. S2CID 42619228.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID 19648921. S2CID 10221927.
Warner, Lindsay L.; Olsen, David A.; Smith, Hugh M. (January 2018). "Clinical implications of de Barsy syndrome". Pediatric Anesthesia. 28 (1): 59–62. doi:10.1111/pan.13283. ISSN 1460-9592. PMID 29148179. S2CID 20004342.

worldcat.org

search.worldcat.org

Lin, Dar-Shong; Chang, Jui-Hsing; Liu, Hsuan-Liang; Wei, Chin-Hung; Yeung, Chun-Yan; Ho, Che-Sheng; Shu, Chyong-Hsin; Chiang, Ming-Fu; Chuang, Chih-Kuang; Huang, Yu-Wen; Wu, Tsu-Yen; Jian, Yuan-Ren; Huang, Zon-Darr; Lin, Shuan-Pei (December 2011). "Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome". American Journal of Medical Genetics. Part A. 155A (12): 3095–3099. doi:10.1002/ajmg.a.34326. ISSN 1552-4833. PMID 22052856. S2CID 5162012.
Warner, Lindsay L.; Olsen, David A.; Smith, Hugh M. (January 2018). "Clinical implications of de Barsy syndrome". Pediatric Anesthesia. 28 (1): 59–62. doi:10.1111/pan.13283. ISSN 1460-9592. PMID 29148179. S2CID 20004342.