Atelosteogenesis type I (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Atelosteogenesis type I" in English language version.

refsWebsite

Global rank English rank

11nih.gov

4^th place

9doi.org

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8worldcat.org

5^th place

doi.org

Sillence, D.; Worthington, S.; Dixon, J.; Osborn, R.; Kozlowski, K. (1997-05-13). "Atelosteogenesis syndromes: a review, with comments on their pathogenesis". Pediatric Radiology. 27 (5). Springer Science and Business Media LLC: 388–396. doi:10.1007/s002470050154. ISSN 0301-0449. PMID 9133349.
Temple, K; Hall, C A; Chitty, L; Baraitser, M (1990-03-01). "A case of atelosteogenesis". Journal of Medical Genetics. 27 (3). BMJ: 194–197. doi:10.1136/jmg.27.3.194. ISSN 1468-6244. PMC 1017004. PMID 2325095.
Wessels, Annasu; Wainwright, Helen C.; Beighton, Peter (2011). "Atelosteogenesis Type I: Autopsy Findings". Pediatric and Developmental Pathology. 14 (6). SAGE Publications: 496–500. doi:10.2350/11-01-0969-cr.1. ISSN 1093-5266. PMID 21985323.
Farrington-Rock, Claire; Firestein, Marc H.; Bicknell, Louise S.; Superti-Furga, Andrea; Bacino, Carlos A.; Cormier-Daire, Valerie; Le Merrer, Martine; Baumann, Clarisse; Roume, Joelle; Rump, Patrick; Verheij, Joke B.G.M.; Sweeney, Elizabeth; Rimoin, David L.; Lachman, Ralph S.; Robertson, Stephen P.; Cohn, Daniel H.; Krakow, Deborah (2006). "Mutations in two regions ofFLNBresult in atelosteogenesis I and III". Human Mutation. 27 (7). Hindawi Limited: 705–710. doi:10.1002/humu.20348. ISSN 1059-7794. PMID 16752402.
Li, Ben C.; Hogue, Jacob; Eilers, Meg; Mehrotra, Pavni; Hyland, James; Holm, Tara; Prosen, Tracy; Slavotinek, Anne M. (2013). "Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue". American Journal of Medical Genetics Part A. 161 (3): 619–625. doi:10.1002/ajmg.a.35792. ISSN 1552-4825. PMID 23401428.
Jeon, Ga Won; Lee, Mi-Na; Jung, Ji Mi; Hong, Seong Yeon; Kim, Young Nam; Sin, Jong Beom; Ki, Chang-Seok (2014-03-01). "Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing". Annals of Laboratory Medicine. 34 (2): 134–138. doi:10.3343/alm.2014.34.2.134. ISSN 2234-3806. PMC 3948826. PMID 24624349.
Ueno, Kazunori; Tanaka, Mamoru; Miyakoshi, Kei; Zhao, Chen; Shinmoto, Hiroshi; Nishimura, Gen; Yoshimura, Yasunori (2002-10-24). "Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation". Prenatal Diagnosis. 22 (12). Wiley: 1071–1075. doi:10.1002/pd.470. ISSN 0197-3851. PMID 12454961.
Nishimurae, Gen; Horiuchi, Takashi; Kim, Ok H.; Sasamoto, Yuka (1997-12-12). "Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". American Journal of Medical Genetics. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862.
Maroteaux, P.; Spranger, J.; Stanescu, V.; Le Marec, B.; Pfeiffer, R. A.; Beighton, P.; Mattei, J. F.; Opitz, John M. (1982). "Atelosteogenesis". American Journal of Medical Genetics. 13 (1). Wiley: 15–25. doi:10.1002/ajmg.1320130106. ISSN 0148-7299. PMID 7137218.

nih.gov

pubmed.ncbi.nlm.nih.gov

Sillence, D.; Worthington, S.; Dixon, J.; Osborn, R.; Kozlowski, K. (1997-05-13). "Atelosteogenesis syndromes: a review, with comments on their pathogenesis". Pediatric Radiology. 27 (5). Springer Science and Business Media LLC: 388–396. doi:10.1007/s002470050154. ISSN 0301-0449. PMID 9133349.
Temple, K; Hall, C A; Chitty, L; Baraitser, M (1990-03-01). "A case of atelosteogenesis". Journal of Medical Genetics. 27 (3). BMJ: 194–197. doi:10.1136/jmg.27.3.194. ISSN 1468-6244. PMC 1017004. PMID 2325095.
Wessels, Annasu; Wainwright, Helen C.; Beighton, Peter (2011). "Atelosteogenesis Type I: Autopsy Findings". Pediatric and Developmental Pathology. 14 (6). SAGE Publications: 496–500. doi:10.2350/11-01-0969-cr.1. ISSN 1093-5266. PMID 21985323.
Farrington-Rock, Claire; Firestein, Marc H.; Bicknell, Louise S.; Superti-Furga, Andrea; Bacino, Carlos A.; Cormier-Daire, Valerie; Le Merrer, Martine; Baumann, Clarisse; Roume, Joelle; Rump, Patrick; Verheij, Joke B.G.M.; Sweeney, Elizabeth; Rimoin, David L.; Lachman, Ralph S.; Robertson, Stephen P.; Cohn, Daniel H.; Krakow, Deborah (2006). "Mutations in two regions ofFLNBresult in atelosteogenesis I and III". Human Mutation. 27 (7). Hindawi Limited: 705–710. doi:10.1002/humu.20348. ISSN 1059-7794. PMID 16752402.
Li, Ben C.; Hogue, Jacob; Eilers, Meg; Mehrotra, Pavni; Hyland, James; Holm, Tara; Prosen, Tracy; Slavotinek, Anne M. (2013). "Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue". American Journal of Medical Genetics Part A. 161 (3): 619–625. doi:10.1002/ajmg.a.35792. ISSN 1552-4825. PMID 23401428.
Jeon, Ga Won; Lee, Mi-Na; Jung, Ji Mi; Hong, Seong Yeon; Kim, Young Nam; Sin, Jong Beom; Ki, Chang-Seok (2014-03-01). "Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing". Annals of Laboratory Medicine. 34 (2): 134–138. doi:10.3343/alm.2014.34.2.134. ISSN 2234-3806. PMC 3948826. PMID 24624349.
Ueno, Kazunori; Tanaka, Mamoru; Miyakoshi, Kei; Zhao, Chen; Shinmoto, Hiroshi; Nishimura, Gen; Yoshimura, Yasunori (2002-10-24). "Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation". Prenatal Diagnosis. 22 (12). Wiley: 1071–1075. doi:10.1002/pd.470. ISSN 0197-3851. PMID 12454961.
Nishimurae, Gen; Horiuchi, Takashi; Kim, Ok H.; Sasamoto, Yuka (1997-12-12). "Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". American Journal of Medical Genetics. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862.
Maroteaux, P.; Spranger, J.; Stanescu, V.; Le Marec, B.; Pfeiffer, R. A.; Beighton, P.; Mattei, J. F.; Opitz, John M. (1982). "Atelosteogenesis". American Journal of Medical Genetics. 13 (1). Wiley: 15–25. doi:10.1002/ajmg.1320130106. ISSN 0148-7299. PMID 7137218.

ncbi.nlm.nih.gov

Temple, K; Hall, C A; Chitty, L; Baraitser, M (1990-03-01). "A case of atelosteogenesis". Journal of Medical Genetics. 27 (3). BMJ: 194–197. doi:10.1136/jmg.27.3.194. ISSN 1468-6244. PMC 1017004. PMID 2325095.
Jeon, Ga Won; Lee, Mi-Na; Jung, Ji Mi; Hong, Seong Yeon; Kim, Young Nam; Sin, Jong Beom; Ki, Chang-Seok (2014-03-01). "Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing". Annals of Laboratory Medicine. 34 (2): 134–138. doi:10.3343/alm.2014.34.2.134. ISSN 2234-3806. PMC 3948826. PMID 24624349.

worldcat.org

search.worldcat.org

Sillence, D.; Worthington, S.; Dixon, J.; Osborn, R.; Kozlowski, K. (1997-05-13). "Atelosteogenesis syndromes: a review, with comments on their pathogenesis". Pediatric Radiology. 27 (5). Springer Science and Business Media LLC: 388–396. doi:10.1007/s002470050154. ISSN 0301-0449. PMID 9133349.
Temple, K; Hall, C A; Chitty, L; Baraitser, M (1990-03-01). "A case of atelosteogenesis". Journal of Medical Genetics. 27 (3). BMJ: 194–197. doi:10.1136/jmg.27.3.194. ISSN 1468-6244. PMC 1017004. PMID 2325095.
Wessels, Annasu; Wainwright, Helen C.; Beighton, Peter (2011). "Atelosteogenesis Type I: Autopsy Findings". Pediatric and Developmental Pathology. 14 (6). SAGE Publications: 496–500. doi:10.2350/11-01-0969-cr.1. ISSN 1093-5266. PMID 21985323.
Farrington-Rock, Claire; Firestein, Marc H.; Bicknell, Louise S.; Superti-Furga, Andrea; Bacino, Carlos A.; Cormier-Daire, Valerie; Le Merrer, Martine; Baumann, Clarisse; Roume, Joelle; Rump, Patrick; Verheij, Joke B.G.M.; Sweeney, Elizabeth; Rimoin, David L.; Lachman, Ralph S.; Robertson, Stephen P.; Cohn, Daniel H.; Krakow, Deborah (2006). "Mutations in two regions ofFLNBresult in atelosteogenesis I and III". Human Mutation. 27 (7). Hindawi Limited: 705–710. doi:10.1002/humu.20348. ISSN 1059-7794. PMID 16752402.
Li, Ben C.; Hogue, Jacob; Eilers, Meg; Mehrotra, Pavni; Hyland, James; Holm, Tara; Prosen, Tracy; Slavotinek, Anne M. (2013). "Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue". American Journal of Medical Genetics Part A. 161 (3): 619–625. doi:10.1002/ajmg.a.35792. ISSN 1552-4825. PMID 23401428.
Jeon, Ga Won; Lee, Mi-Na; Jung, Ji Mi; Hong, Seong Yeon; Kim, Young Nam; Sin, Jong Beom; Ki, Chang-Seok (2014-03-01). "Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing". Annals of Laboratory Medicine. 34 (2): 134–138. doi:10.3343/alm.2014.34.2.134. ISSN 2234-3806. PMC 3948826. PMID 24624349.
Ueno, Kazunori; Tanaka, Mamoru; Miyakoshi, Kei; Zhao, Chen; Shinmoto, Hiroshi; Nishimura, Gen; Yoshimura, Yasunori (2002-10-24). "Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation". Prenatal Diagnosis. 22 (12). Wiley: 1071–1075. doi:10.1002/pd.470. ISSN 0197-3851. PMID 12454961.
Maroteaux, P.; Spranger, J.; Stanescu, V.; Le Marec, B.; Pfeiffer, R. A.; Beighton, P.; Mattei, J. F.; Opitz, John M. (1982). "Atelosteogenesis". American Journal of Medical Genetics. 13 (1). Wiley: 15–25. doi:10.1002/ajmg.1320130106. ISSN 0148-7299. PMID 7137218.