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A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
Clin Genet. 2009 Jul;76(1):108-12. doi: 10.1111/j.1399-0004.2009.01188.x. Epub 2009 Jun 9.
Clin Genet. 2009.
PMID: 19519795
Free article.
No abstract available.
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J.
Cotarelo RP, et al.
Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19.
Clin Genet. 2008.
PMID: 18177472
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Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome.
Prados B, Peña A, Cotarelo RP, Valero MC, Cruces J.
Prados B, et al. Among authors: cotarelo rp.
Am J Pathol. 2007 May;170(5):1659-68. doi: 10.2353/ajpath.2007.061264.
Am J Pathol. 2007.
PMID: 17456771
Free PMC article.
Item in Clipboard
Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
Raducu M, Cotarelo RP, Simón R, Camacho A, Rubio-Fernández M, Hernández-Laín A, Cruces J.
Raducu M, et al. Among authors: cotarelo rp.
J Child Neurol. 2014 Feb;29(2):289-94. doi: 10.1177/0883073813509119. Epub 2013 Nov 25.
J Child Neurol. 2014.
PMID: 24282183
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Successful implantation and live birth of a healthy boy after triple biopsy and double vitrification of oocyte-embryo-blastocyst.
Greco E, Biricik A, Cotarelo RP, Iammarone E, Rubino P, Tesarik J, Fiorentino F, Minasi MG.
Greco E, et al. Among authors: cotarelo rp.
Springerplus. 2015 Jan 14;4:22. doi: 10.1186/s40064-015-0788-y. eCollection 2015.
Springerplus. 2015.
PMID: 25625041
Free PMC article.
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Trophectoderm biopsy performed by a double laser zona drilling: first safety evidence.
Rubino P, Cotarelo RP, Alteri A, Rega E, Viganò P, Giannini P.
Rubino P, et al. Among authors: cotarelo rp.
Eur J Obstet Gynecol Reprod Biol. 2014 Oct;181:344-5. doi: 10.1016/j.ejogrb.2014.08.019. Epub 2014 Aug 27.
Eur J Obstet Gynecol Reprod Biol. 2014.
PMID: 25199461
No abstract available.
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