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Page 1
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajić N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF. Morimoto M, et al. Among authors: kirmani s. Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70. Orphanet J Rare Dis. 2012. PMID: 22998683 Free PMC article.
Dental abnormalities in Schimke immuno-osseous dysplasia.
Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF. Morimoto M, et al. Among authors: kirmani s. J Dent Res. 2012 Jul;91(7 Suppl):29S-37S. doi: 10.1177/0022034512450299. J Dent Res. 2012. PMID: 22699664 Free PMC article.
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases.
Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD, Leslie KO, Colby TV, Cockcroft DW, Churg AM, Yi ES. Dvorak LA, et al. Among authors: kirmani s. Hum Pathol. 2015 Jan;46(1):147-52. doi: 10.1016/j.humpath.2014.10.003. Epub 2014 Oct 14. Hum Pathol. 2015. PMID: 25455995
Fragile X syndrome due to a missense mutation.
Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST. Myrick LK, et al. Among authors: kirmani s. Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22. Eur J Hum Genet. 2014. PMID: 24448548 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Bone structure at the distal radius during adolescent growth.
Kirmani S, Christen D, van Lenthe GH, Fischer PR, Bouxsein ML, McCready LK, Melton LJ 3rd, Riggs BL, Amin S, Müller R, Khosla S. Kirmani S, et al. J Bone Miner Res. 2009 Jun;24(6):1033-42. doi: 10.1359/jbmr.081255. J Bone Miner Res. 2009. PMID: 19113916 Free PMC article.
Vitamin A deficiency in an infant with PAGOD syndrome.
Gavrilova R, Babovic N, Lteif A, Eidem B, Kirmani S, Olson T, Babovic-Vuksanovic D. Gavrilova R, et al. Among authors: kirmani s. Am J Med Genet A. 2009 Oct;149A(10):2241-7. doi: 10.1002/ajmg.a.32998. Am J Med Genet A. 2009. PMID: 19760653
177 results