Acheiropodia (English Wikipedia)

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

refsWebsite

Global rank English rank

37nih.gov

4^th place

27doi.org

2^nd place

13worldcat.org

5^th place

6nature.com

234^th place

397^th place

6harvard.edu

18^th place

17^th place

3semanticscholar.org

11^th place

8^th place

2wiley.com

222^nd place

297^th place

1uiowa.edu

3,018^th place

1,865^th place

1lww.com

2,769^th place

3,314^th place

1sciencedirect.com

149^th place

178^th place

doi.org

Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat (2012). "The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography". American Journal of Case Reports. 13: 106–108. doi:10.12659/ajcr.883025. ISSN 1941-5923. PMC 3615972. PMID 23569502.
Freire-Maia, Ademar; Opitz, John M. (1981). "Historical note: The extraordinary handless and footless families of Brazil – 50 years of acheiropodia". American Journal of Medical Genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. ISSN 0148-7299. PMID 7018242.
Temur, I; Ulker, K; Volkan, I; Karaca, M; Ersoz, M; Gul, A; Adiguzel, E (2012). "The ﬁrst case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23 rd week of a pregnancy: A very rare and unusual case far from the original geography". Am J Case Rep. 13: 106–108. doi:10.12659/AJCR.883025. PMC 3615972. PMID 23569502.
Ülker, K; Karasu, Y; Bozkurt, M; Gençdal, S; Bozkurt, D. K.; Şahin, L (2015). "The second case of Horn Kolb Syndrome in the same woman in Turkey, diagnosed prenatally at 16 weeks of pregnancy". Proceedings in Obstetrics and Gynecology. 5 (1): 1–6. doi:10.17077/2154-4751.1282.
Fraser, G. R. (1970). "The handless and footless families of Brazil". Lancet I. 295 (7657): 1171. doi:10.1016/S0140-6736(70)91237-7. PMID 4192115.
Ormazabal, M; Vaccari, N; Szulepa, R; Bidondo, M. P.; Barbero, P; Groisman, B (2015). "Aqueiropodia: primer reporte de caso en Argentina [Acheiropodia: first case report in Argentina]". Archivos Argentinos de Pediatria. 113 (5): e299–e303. doi:10.5546/aap.2015.e299. PMID 26294167.
Kruger, LM; Kumar, A (1994). "Acheiropody: a report of two cases". J Bone Joint Surg. 76A (10): 1557–1560. doi:10.2106/00004623-199410000-00017. PMID 7929505.
Ianakiev, P.; van Baren MJ, null; Daly, M. J.; Toledo, S. P.; Cavalcanti, M. G.; Neto, J. C.; Silveira, E. L.; Freire-Maia, A.; Heutink, P.; Kilpatrick, M. W.; Tsipouras, P. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". American Journal of Human Genetics. 68 (1): 38–45. doi:10.1086/316955. ISSN 0002-9297. PMC 1234933. PMID 11090342.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Tickle, C; Barker, H (2013). "The Sonic hedgehog gradient in the developing limb". WIREs Developmental Biology. 12 (1): 275–290. doi:10.1002/wdev.70. PMID 24009037.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Tickle, C; Barker, H (2013). "The Sonic hedgehog gradient in the developing limb". WIREs Developmental Biology. 12 (1): 275–290. doi:10.1002/wdev.70. PMID 24009037.
Grimaldi, Angela; Masiero, D.; Richieri-Costa, A.; Freire-Maia, A.; Opitz, J. M. (1983). "Variable expressivity of the acheiropodia gene". American Journal of Medical Genetics. 16 (4): 631–634. doi:10.1002/ajmg.1320160420. ISSN 0148-7299. PMID 6660253.
Ülker, Kahraman; Karasu, Yetkin; Bozkurt, Murat; Gençdal, Servet; Bozkurt, Duygu Kara; Şahin, Levent (2015). "The second case of Horn Kolb Syndrome in the same woman in Turkey, diagnosed prenatally at 16 weeks of pregnancy". Proceedings in Obstetrics and Gynecology. 5 (1): 1–6. doi:10.17077/2154-4751.1282. ISSN 2154-4751.
Sharony, Reuven; Browne, Charlie; Lachman, Ralph S.; Rimoin, David L. (1993-09-01). "Prenatal diagnosis of the skeletal dysplasias". American Journal of Obstetrics and Gynecology. 169 (3): 668–675. doi:10.1016/0002-9378(93)90641-U. ISSN 0002-9378. PMID 8372878.
Rajala, Katri; Kasanen, Ellamaija; Toiviainen-Salo, Sanna; Valta, Helena; Mäkitie, Outi; Stefanovic, Vedran; Tanner, Laura (2022). "Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort". Prenatal Diagnosis. 42 (12): 1525–1537. doi:10.1002/pd.6186. ISSN 0197-3851. PMC 9796183. PMID 35611473.
Brambati, Bruno; Tului, Lucia (2005). "Chorionic villus sampling and amniocentesis". Current Opinion in Obstetrics and Gynecology. 17 (2): 197–201. doi:10.1097/01.gco.0000162191.22091.e9. ISSN 1040-872X. PMID 15758614. S2CID 25539327.
Mano, Hiroshi; Fujiwara, Sayaka; Takamura, Kazuyuki; Kitoh, Hiroshi; Takayama, Shinichiro; Ogata, Tsutomu; Haga, Nobuhiko (2021-07-01). "Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan". Journal of Orthopaedic Science. 26 (4): 650–654. doi:10.1016/j.jos.2020.05.008. ISSN 0949-2658. PMID 32600906. S2CID 220268893.
Yigiter, K.; Ulger, O.; Sener, G.; Akdogan, S.; Erbahçeci, F.; Bayar, K. (2005). "Demography and function of children with limb loss". Prosthetics and Orthotics International. 29 (2): 131–138. doi:10.1080/03093640500199703. ISSN 0309-3646. PMID 16281722. S2CID 42037061.
Kruger, LM; Kumar, A (1994). "Acheiropody: a report of two cases". J Bone Joint Surg. 76A (10): 1557–1560. doi:10.2106/00004623-199410000-00017. PMID 7929505.
Lowe, Kevin G.; Boyce, Joanne M. (2004). "Rehabilitation of a child with meningococcal septicemia and quadrilateral limb loss: a case report". Archives of Physical Medicine and Rehabilitation. 85 (8): 1354–1357. doi:10.1016/j.apmr.2003.09.030. ISSN 0003-9993. PMID 15295765.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.

dx.doi.org

Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat (2012). "The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography". American Journal of Case Reports. 13: 106–108. doi:10.12659/ajcr.883025. ISSN 1941-5923. PMC 3615972. PMID 23569502.
Sharony, Reuven; Browne, Charlie; Lachman, Ralph S.; Rimoin, David L. (1993-09-01). "Prenatal diagnosis of the skeletal dysplasias". American Journal of Obstetrics and Gynecology. 169 (3): 668–675. doi:10.1016/0002-9378(93)90641-U. ISSN 0002-9378. PMID 8372878.

harvard.edu

ui.adsabs.harvard.edu

Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.

lww.com

journals.lww.com

Brambati, Bruno; Tului, Lucia (2005). "Chorionic villus sampling and amniocentesis". Current Opinion in Obstetrics and Gynecology. 17 (2): 197–201. doi:10.1097/01.gco.0000162191.22091.e9. ISSN 1040-872X. PMID 15758614. S2CID 25539327.

nature.com

Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.

nih.gov

pubmed.ncbi.nlm.nih.gov

Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat (2012). "The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography". American Journal of Case Reports. 13: 106–108. doi:10.12659/ajcr.883025. ISSN 1941-5923. PMC 3615972. PMID 23569502.
Freire-Maia, A.; Freire-Maia, N.; Morton, N. E.; Azevêdo, E. S.; Quelce-Salgado, A. (1975). "Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis". American Journal of Human Genetics. 27 (4): 521–527. ISSN 0002-9297. PMC 1762812. PMID 1155460.
Freire-Maia, Ademar; Opitz, John M. (1981). "Historical note: The extraordinary handless and footless families of Brazil – 50 years of acheiropodia". American Journal of Medical Genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. ISSN 0148-7299. PMID 7018242.
Temur, I; Ulker, K; Volkan, I; Karaca, M; Ersoz, M; Gul, A; Adiguzel, E (2012). "The ﬁrst case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23 rd week of a pregnancy: A very rare and unusual case far from the original geography". Am J Case Rep. 13: 106–108. doi:10.12659/AJCR.883025. PMC 3615972. PMID 23569502.
Fraser, G. R. (1970). "The handless and footless families of Brazil". Lancet I. 295 (7657): 1171. doi:10.1016/S0140-6736(70)91237-7. PMID 4192115.
Ormazabal, M; Vaccari, N; Szulepa, R; Bidondo, M. P.; Barbero, P; Groisman, B (2015). "Aqueiropodia: primer reporte de caso en Argentina [Acheiropodia: first case report in Argentina]". Archivos Argentinos de Pediatria. 113 (5): e299–e303. doi:10.5546/aap.2015.e299. PMID 26294167.
Kruger, LM; Kumar, A (1994). "Acheiropody: a report of two cases". J Bone Joint Surg. 76A (10): 1557–1560. doi:10.2106/00004623-199410000-00017. PMID 7929505.
Ianakiev, P.; van Baren MJ, null; Daly, M. J.; Toledo, S. P.; Cavalcanti, M. G.; Neto, J. C.; Silveira, E. L.; Freire-Maia, A.; Heutink, P.; Kilpatrick, M. W.; Tsipouras, P. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". American Journal of Human Genetics. 68 (1): 38–45. doi:10.1086/316955. ISSN 0002-9297. PMC 1234933. PMID 11090342.
Freire-Maia, A.; Li, W. H.; Maruyama, T. (1975). "Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics". American Journal of Human Genetics. 27 (5): 665–675. ISSN 0002-9297. PMC 1762833. PMID 1163539.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Tickle, C; Barker, H (2013). "The Sonic hedgehog gradient in the developing limb". WIREs Developmental Biology. 12 (1): 275–290. doi:10.1002/wdev.70. PMID 24009037.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Tickle, C; Barker, H (2013). "The Sonic hedgehog gradient in the developing limb". WIREs Developmental Biology. 12 (1): 275–290. doi:10.1002/wdev.70. PMID 24009037.
Grimaldi, Angela; Masiero, D.; Richieri-Costa, A.; Freire-Maia, A.; Opitz, J. M. (1983). "Variable expressivity of the acheiropodia gene". American Journal of Medical Genetics. 16 (4): 631–634. doi:10.1002/ajmg.1320160420. ISSN 0148-7299. PMID 6660253.
Sharony, Reuven; Browne, Charlie; Lachman, Ralph S.; Rimoin, David L. (1993-09-01). "Prenatal diagnosis of the skeletal dysplasias". American Journal of Obstetrics and Gynecology. 169 (3): 668–675. doi:10.1016/0002-9378(93)90641-U. ISSN 0002-9378. PMID 8372878.
Rajala, Katri; Kasanen, Ellamaija; Toiviainen-Salo, Sanna; Valta, Helena; Mäkitie, Outi; Stefanovic, Vedran; Tanner, Laura (2022). "Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort". Prenatal Diagnosis. 42 (12): 1525–1537. doi:10.1002/pd.6186. ISSN 0197-3851. PMC 9796183. PMID 35611473.
Brambati, Bruno; Tului, Lucia (2005). "Chorionic villus sampling and amniocentesis". Current Opinion in Obstetrics and Gynecology. 17 (2): 197–201. doi:10.1097/01.gco.0000162191.22091.e9. ISSN 1040-872X. PMID 15758614. S2CID 25539327.
Mano, Hiroshi; Fujiwara, Sayaka; Takamura, Kazuyuki; Kitoh, Hiroshi; Takayama, Shinichiro; Ogata, Tsutomu; Haga, Nobuhiko (2021-07-01). "Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan". Journal of Orthopaedic Science. 26 (4): 650–654. doi:10.1016/j.jos.2020.05.008. ISSN 0949-2658. PMID 32600906. S2CID 220268893.
Yigiter, K.; Ulger, O.; Sener, G.; Akdogan, S.; Erbahçeci, F.; Bayar, K. (2005). "Demography and function of children with limb loss". Prosthetics and Orthotics International. 29 (2): 131–138. doi:10.1080/03093640500199703. ISSN 0309-3646. PMID 16281722. S2CID 42037061.
Kruger, LM; Kumar, A (1994). "Acheiropody: a report of two cases". J Bone Joint Surg. 76A (10): 1557–1560. doi:10.2106/00004623-199410000-00017. PMID 7929505.
Lowe, Kevin G.; Boyce, Joanne M. (2004). "Rehabilitation of a child with meningococcal septicemia and quadrilateral limb loss: a case report". Archives of Physical Medicine and Rehabilitation. 85 (8): 1354–1357. doi:10.1016/j.apmr.2003.09.030. ISSN 0003-9993. PMID 15295765.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.

ncbi.nlm.nih.gov

Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat (2012). "The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography". American Journal of Case Reports. 13: 106–108. doi:10.12659/ajcr.883025. ISSN 1941-5923. PMC 3615972. PMID 23569502.
Freire-Maia, A.; Freire-Maia, N.; Morton, N. E.; Azevêdo, E. S.; Quelce-Salgado, A. (1975). "Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis". American Journal of Human Genetics. 27 (4): 521–527. ISSN 0002-9297. PMC 1762812. PMID 1155460.
Temur, I; Ulker, K; Volkan, I; Karaca, M; Ersoz, M; Gul, A; Adiguzel, E (2012). "The ﬁrst case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23 rd week of a pregnancy: A very rare and unusual case far from the original geography". Am J Case Rep. 13: 106–108. doi:10.12659/AJCR.883025. PMC 3615972. PMID 23569502.
Ianakiev, P.; van Baren MJ, null; Daly, M. J.; Toledo, S. P.; Cavalcanti, M. G.; Neto, J. C.; Silveira, E. L.; Freire-Maia, A.; Heutink, P.; Kilpatrick, M. W.; Tsipouras, P. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". American Journal of Human Genetics. 68 (1): 38–45. doi:10.1086/316955. ISSN 0002-9297. PMC 1234933. PMID 11090342.
Freire-Maia, A.; Li, W. H.; Maruyama, T. (1975). "Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics". American Journal of Human Genetics. 27 (5): 665–675. ISSN 0002-9297. PMC 1762833. PMID 1163539.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.
Rajala, Katri; Kasanen, Ellamaija; Toiviainen-Salo, Sanna; Valta, Helena; Mäkitie, Outi; Stefanovic, Vedran; Tanner, Laura (2022). "Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort". Prenatal Diagnosis. 42 (12): 1525–1537. doi:10.1002/pd.6186. ISSN 0197-3851. PMC 9796183. PMID 35611473.
Ushiki, A; Zhang, Y; Xiong, C; Zhao`, J; Georgakopoulo, I (2021). "Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia". Nature Communications. 12 (1): 2282. Bibcode:2021NatCo..12.2282U. doi:10.1038/s41467-021-22470-z. PMC 8052326. PMID 33863876.

sciencedirect.com

Mano, Hiroshi; Fujiwara, Sayaka; Takamura, Kazuyuki; Kitoh, Hiroshi; Takayama, Shinichiro; Ogata, Tsutomu; Haga, Nobuhiko (2021-07-01). "Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan". Journal of Orthopaedic Science. 26 (4): 650–654. doi:10.1016/j.jos.2020.05.008. ISSN 0949-2658. PMID 32600906. S2CID 220268893.

semanticscholar.org

api.semanticscholar.org

Brambati, Bruno; Tului, Lucia (2005). "Chorionic villus sampling and amniocentesis". Current Opinion in Obstetrics and Gynecology. 17 (2): 197–201. doi:10.1097/01.gco.0000162191.22091.e9. ISSN 1040-872X. PMID 15758614. S2CID 25539327.
Mano, Hiroshi; Fujiwara, Sayaka; Takamura, Kazuyuki; Kitoh, Hiroshi; Takayama, Shinichiro; Ogata, Tsutomu; Haga, Nobuhiko (2021-07-01). "Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan". Journal of Orthopaedic Science. 26 (4): 650–654. doi:10.1016/j.jos.2020.05.008. ISSN 0949-2658. PMID 32600906. S2CID 220268893.
Yigiter, K.; Ulger, O.; Sener, G.; Akdogan, S.; Erbahçeci, F.; Bayar, K. (2005). "Demography and function of children with limb loss". Prosthetics and Orthotics International. 29 (2): 131–138. doi:10.1080/03093640500199703. ISSN 0309-3646. PMID 16281722. S2CID 42037061.

uiowa.edu

pubs.lib.uiowa.edu

Ülker, Kahraman; Karasu, Yetkin; Bozkurt, Murat; Gençdal, Servet; Bozkurt, Duygu Kara; Şahin, Levent (2015). "The second case of Horn Kolb Syndrome in the same woman in Turkey, diagnosed prenatally at 16 weeks of pregnancy". Proceedings in Obstetrics and Gynecology. 5 (1): 1–6. doi:10.17077/2154-4751.1282. ISSN 2154-4751.

wiley.com

onlinelibrary.wiley.com

Freire-Maia, Ademar; Opitz, John M. (1981). "Historical note: The extraordinary handless and footless families of Brazil – 50 years of acheiropodia". American Journal of Medical Genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. ISSN 0148-7299. PMID 7018242.
Grimaldi, Angela; Masiero, D.; Richieri-Costa, A.; Freire-Maia, A.; Opitz, J. M. (1983). "Variable expressivity of the acheiropodia gene". American Journal of Medical Genetics. 16 (4): 631–634. doi:10.1002/ajmg.1320160420. ISSN 0148-7299. PMID 6660253.

worldcat.org

search.worldcat.org

Temur, Ismail; Ulker, Kahraman; Volkan, Islim; Karaca, Mehmet; Ersoz, Mustafa; Gul, Abdulaziz; Adiguzel, Esat (2012). "The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography". American Journal of Case Reports. 13: 106–108. doi:10.12659/ajcr.883025. ISSN 1941-5923. PMC 3615972. PMID 23569502.
Freire-Maia, A.; Freire-Maia, N.; Morton, N. E.; Azevêdo, E. S.; Quelce-Salgado, A. (1975). "Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis". American Journal of Human Genetics. 27 (4): 521–527. ISSN 0002-9297. PMC 1762812. PMID 1155460.
Freire-Maia, Ademar; Opitz, John M. (1981). "Historical note: The extraordinary handless and footless families of Brazil – 50 years of acheiropodia". American Journal of Medical Genetics. 9 (1): 31–41. doi:10.1002/ajmg.1320090108. ISSN 0148-7299. PMID 7018242.
Ianakiev, P.; van Baren MJ, null; Daly, M. J.; Toledo, S. P.; Cavalcanti, M. G.; Neto, J. C.; Silveira, E. L.; Freire-Maia, A.; Heutink, P.; Kilpatrick, M. W.; Tsipouras, P. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". American Journal of Human Genetics. 68 (1): 38–45. doi:10.1086/316955. ISSN 0002-9297. PMC 1234933. PMID 11090342.
Freire-Maia, A.; Li, W. H.; Maruyama, T. (1975). "Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics". American Journal of Human Genetics. 27 (5): 665–675. ISSN 0002-9297. PMC 1762833. PMID 1163539.
Grimaldi, Angela; Masiero, D.; Richieri-Costa, A.; Freire-Maia, A.; Opitz, J. M. (1983). "Variable expressivity of the acheiropodia gene". American Journal of Medical Genetics. 16 (4): 631–634. doi:10.1002/ajmg.1320160420. ISSN 0148-7299. PMID 6660253.
Ülker, Kahraman; Karasu, Yetkin; Bozkurt, Murat; Gençdal, Servet; Bozkurt, Duygu Kara; Şahin, Levent (2015). "The second case of Horn Kolb Syndrome in the same woman in Turkey, diagnosed prenatally at 16 weeks of pregnancy". Proceedings in Obstetrics and Gynecology. 5 (1): 1–6. doi:10.17077/2154-4751.1282. ISSN 2154-4751.
Sharony, Reuven; Browne, Charlie; Lachman, Ralph S.; Rimoin, David L. (1993-09-01). "Prenatal diagnosis of the skeletal dysplasias". American Journal of Obstetrics and Gynecology. 169 (3): 668–675. doi:10.1016/0002-9378(93)90641-U. ISSN 0002-9378. PMID 8372878.
Rajala, Katri; Kasanen, Ellamaija; Toiviainen-Salo, Sanna; Valta, Helena; Mäkitie, Outi; Stefanovic, Vedran; Tanner, Laura (2022). "Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort". Prenatal Diagnosis. 42 (12): 1525–1537. doi:10.1002/pd.6186. ISSN 0197-3851. PMC 9796183. PMID 35611473.
Brambati, Bruno; Tului, Lucia (2005). "Chorionic villus sampling and amniocentesis". Current Opinion in Obstetrics and Gynecology. 17 (2): 197–201. doi:10.1097/01.gco.0000162191.22091.e9. ISSN 1040-872X. PMID 15758614. S2CID 25539327.
Mano, Hiroshi; Fujiwara, Sayaka; Takamura, Kazuyuki; Kitoh, Hiroshi; Takayama, Shinichiro; Ogata, Tsutomu; Haga, Nobuhiko (2021-07-01). "Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan". Journal of Orthopaedic Science. 26 (4): 650–654. doi:10.1016/j.jos.2020.05.008. ISSN 0949-2658. PMID 32600906. S2CID 220268893.
Yigiter, K.; Ulger, O.; Sener, G.; Akdogan, S.; Erbahçeci, F.; Bayar, K. (2005). "Demography and function of children with limb loss". Prosthetics and Orthotics International. 29 (2): 131–138. doi:10.1080/03093640500199703. ISSN 0309-3646. PMID 16281722. S2CID 42037061.
Lowe, Kevin G.; Boyce, Joanne M. (2004). "Rehabilitation of a child with meningococcal septicemia and quadrilateral limb loss: a case report". Archives of Physical Medicine and Rehabilitation. 85 (8): 1354–1357. doi:10.1016/j.apmr.2003.09.030. ISSN 0003-9993. PMID 15295765.