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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: sultan g. Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293843 Free PMC article.
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: sultan g. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
In vivo corneal confocal microscopy in marfan syndrome.
Iordanidou V, Sultan G, Boileau C, Raphael M, Baudouin C; Marfan Study Group. Iordanidou V, et al. Among authors: sultan g. Cornea. 2007 Aug;26(7):787-92. doi: 10.1097/ICO.0b013e31806c7729. Cornea. 2007. PMID: 17667610
Percutaneous Nephrolithotomy in Anomalous Kidney.
Mahar NA, Qureshi HH, Mustafa G, Memon MM, Kalwar SR, Sultan G. Mahar NA, et al. Among authors: sultan g. J Coll Physicians Surg Pak. 2023 Dec;33(12):1414-1417. doi: 10.29271/jcpsp.2023.12.1414. J Coll Physicians Surg Pak. 2023. PMID: 38062599
48 results