Severe congenital neutropenia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Severe congenital neutropenia" in English language version.

refsWebsite

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16nih.gov

4^th place

10doi.org

2^nd place

7omim.org

4,380^th place

4,305^th place

2semanticscholar.org

11^th place

8^th place

doi.org

Boztug, K; Appaswamy, G; Ashikov, A; Schäffer, AA; Salzer, U; Diestelhorst, J; Germeshausen, M; Brandes, G; Lee-Gossler, J; Noyan, F; Gatzke, AK; Minkov, M; Greil, J; Kratz, C; Petropoulou, T; Pellier, I; Bellanné-Chantelot, C; Rezaei, N; Mönkemöller, K; Irani-Hakimeh, N; Bakker, H; Gerardy-Schahn, R; Zeidler, C; Grimbacher, B; Welte, K; Klein, C (1 January 2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England Journal of Medicine. 360 (1): 32–43. doi:10.1056/nejmoa0805051. PMC 2778311. PMID 19118303.
Zeidler C, Welte K (2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. doi:10.1053/shem.2002.31913. PMID 11957189.
Stepensky P, Saada A, Cowan M, et al. (June 2013). "The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy". Blood. 121 (25): 5078–87. doi:10.1182/blood-2012-12-475566. PMID 23599270.
Christensen RD, Calhoun DA (2004). "Congenital neutropenia". Clin Perinatol. 31 (1): 29–38. doi:10.1016/j.clp.2004.03.011. PMID 15183654.
Kostmann R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria". Acta Paediatr. 45 (Suppl 105): 1–78. doi:10.1111/j.1651-2227.1956.tb06875.x. PMID 13326376. S2CID 71420679.
Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K.; Schwinzer, B.; Rezaei, N.; Bohn, G.; Melin, M.; Carlsson, G. R.; Fadeel, B.; Dahl, N.; Palmblad, J.; Henter, J. I.; Zeidler, C.; Grimbacher, B.; Welte, K. (Jan 2006). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nature Genetics. 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068. S2CID 22757727.
Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM (April 2015). "Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations". Cancer Medicine. 4 (4): 490–9. doi:10.1002/cam4.384. PMC 4402062. PMID 25619630.
Crispino JD, Horwitz MS (April 2017). "GATA factor mutations in hematologic disease". Blood. 129 (15): 2103–2110. doi:10.1182/blood-2016-09-687889. PMC 5391620. PMID 28179280.
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM (August 2017). "Heterogeneity of GATA2-related myeloid neoplasms". International Journal of Hematology. 106 (2): 175–182. doi:10.1007/s12185-017-2285-2. PMID 28643018.
Newburger, Peter E.; Dale, David C. (July 2013). "Evaluation and Management of Patients With Isolated Neutropenia". Seminars in Hematology. 50 (3): 198–206. doi:10.1053/j.seminhematol.2013.06.010. PMC 3748385. PMID 23953336.

nih.gov

pubmed.ncbi.nlm.nih.gov

Dale DC, Makaryan V (2018) [2002]. "ELANE-Related Neutropenia". GeneReviews. PMID 20301705. Retrieved 2019-08-12.
Boztug, K; Appaswamy, G; Ashikov, A; Schäffer, AA; Salzer, U; Diestelhorst, J; Germeshausen, M; Brandes, G; Lee-Gossler, J; Noyan, F; Gatzke, AK; Minkov, M; Greil, J; Kratz, C; Petropoulou, T; Pellier, I; Bellanné-Chantelot, C; Rezaei, N; Mönkemöller, K; Irani-Hakimeh, N; Bakker, H; Gerardy-Schahn, R; Zeidler, C; Grimbacher, B; Welte, K; Klein, C (1 January 2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England Journal of Medicine. 360 (1): 32–43. doi:10.1056/nejmoa0805051. PMC 2778311. PMID 19118303.
Zeidler C, Welte K (2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. doi:10.1053/shem.2002.31913. PMID 11957189.
Stepensky P, Saada A, Cowan M, et al. (June 2013). "The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy". Blood. 121 (25): 5078–87. doi:10.1182/blood-2012-12-475566. PMID 23599270.
Christensen RD, Calhoun DA (2004). "Congenital neutropenia". Clin Perinatol. 31 (1): 29–38. doi:10.1016/j.clp.2004.03.011. PMID 15183654.
Kostmann R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria". Acta Paediatr. 45 (Suppl 105): 1–78. doi:10.1111/j.1651-2227.1956.tb06875.x. PMID 13326376. S2CID 71420679.
Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K.; Schwinzer, B.; Rezaei, N.; Bohn, G.; Melin, M.; Carlsson, G. R.; Fadeel, B.; Dahl, N.; Palmblad, J.; Henter, J. I.; Zeidler, C.; Grimbacher, B.; Welte, K. (Jan 2006). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nature Genetics. 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068. S2CID 22757727.
Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM (April 2015). "Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations". Cancer Medicine. 4 (4): 490–9. doi:10.1002/cam4.384. PMC 4402062. PMID 25619630.
Crispino JD, Horwitz MS (April 2017). "GATA factor mutations in hematologic disease". Blood. 129 (15): 2103–2110. doi:10.1182/blood-2016-09-687889. PMC 5391620. PMID 28179280.
Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM (August 2017). "Heterogeneity of GATA2-related myeloid neoplasms". International Journal of Hematology. 106 (2): 175–182. doi:10.1007/s12185-017-2285-2. PMID 28643018.
Newburger, Peter E.; Dale, David C. (July 2013). "Evaluation and Management of Patients With Isolated Neutropenia". Seminars in Hematology. 50 (3): 198–206. doi:10.1053/j.seminhematol.2013.06.010. PMC 3748385. PMID 23953336.

ncbi.nlm.nih.gov

Dale DC, Makaryan V (2018) [2002]. "ELANE-Related Neutropenia". GeneReviews. PMID 20301705. Retrieved 2019-08-12.
Boztug, K; Appaswamy, G; Ashikov, A; Schäffer, AA; Salzer, U; Diestelhorst, J; Germeshausen, M; Brandes, G; Lee-Gossler, J; Noyan, F; Gatzke, AK; Minkov, M; Greil, J; Kratz, C; Petropoulou, T; Pellier, I; Bellanné-Chantelot, C; Rezaei, N; Mönkemöller, K; Irani-Hakimeh, N; Bakker, H; Gerardy-Schahn, R; Zeidler, C; Grimbacher, B; Welte, K; Klein, C (1 January 2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England Journal of Medicine. 360 (1): 32–43. doi:10.1056/nejmoa0805051. PMC 2778311. PMID 19118303.
Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP, Jackson AE, Holland SM, Patnaik MM (April 2015). "Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations". Cancer Medicine. 4 (4): 490–9. doi:10.1002/cam4.384. PMC 4402062. PMID 25619630.
Crispino JD, Horwitz MS (April 2017). "GATA factor mutations in hematologic disease". Blood. 129 (15): 2103–2110. doi:10.1182/blood-2016-09-687889. PMC 5391620. PMID 28179280.
Newburger, Peter E.; Dale, David C. (July 2013). "Evaluation and Management of Patients With Isolated Neutropenia". Seminars in Hematology. 50 (3): 198–206. doi:10.1053/j.seminhematol.2013.06.010. PMC 3748385. PMID 23953336.

omim.org

Elastase, neutrophil-expressed; ELANE. Online Mendelian Inheritance in Man. Johns Hopkins University. [1]
WAS gene; WAS. Online Mendelian Inheritance in Man. Johns Hopkins University. [2]
Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2. Online Mendelian Inheritance in Man. Johns Hopkins University. [3]
Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4. Online Mendelian Inheritance in Man. Johns Hopkins University. [4]
Neutropenia, Severe Congenital, 5, Autosomal Recessive; SCN5. Online Mendelian Inheritance in Man. Johns Hopkins University. [5]
Neutropenia, Severe Congenital, X-linked; SCNX. Online Mendelian Inheritance in Man. Johns Hopkins University. [6]
Online Mendelian Inheritance in Man (OMIM): Neutropenia, Severe congenital, 3, Autosomal recessive; SCN3 - 610738

semanticscholar.org

api.semanticscholar.org

Kostmann R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria". Acta Paediatr. 45 (Suppl 105): 1–78. doi:10.1111/j.1651-2227.1956.tb06875.x. PMID 13326376. S2CID 71420679.
Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K.; Schwinzer, B.; Rezaei, N.; Bohn, G.; Melin, M.; Carlsson, G. R.; Fadeel, B.; Dahl, N.; Palmblad, J.; Henter, J. I.; Zeidler, C.; Grimbacher, B.; Welte, K. (Jan 2006). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nature Genetics. 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068. S2CID 22757727.