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Autosomal dominant inheritance of left ventricular outflow tract obstruction.
Am J Med Genet A. 2005 Apr 15;134A(2):171-9. doi: 10.1002/ajmg.a.30601.
Am J Med Genet A. 2005.
PMID: 15712195
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?
Guazzi G, Palmeri S, Malandrini A, Ciacci G, Di Perri R, Mancini G, Messina C, Salvadori C.
Guazzi G, et al.
Am J Med Genet. 1994 Mar 1;50(1):79-83. doi: 10.1002/ajmg.1320500117.
Am J Med Genet. 1994.
PMID: 8160757
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Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D.
Robertson SP, et al.
Am J Med Genet A. 2006 Aug 15;140(16):1726-36. doi: 10.1002/ajmg.a.31322.
Am J Med Genet A. 2006.
PMID: 16835913
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Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N.
Hanks S, et al.
Am J Hum Genet. 2003 Oct;73(4):791-800. doi: 10.1086/378418. Epub 2003 Aug 21.
Am J Hum Genet. 2003.
PMID: 14508707
Free PMC article.
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The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM.
Rahman N, et al.
Am J Hum Genet. 2002 Oct;71(4):975-80. doi: 10.1086/342776. Epub 2002 Sep 4.
Am J Hum Genet. 2002.
PMID: 12214284
Free PMC article.
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Spherophakia associated with molybdenum cofactor deficiency.
Parini R, Briscioli V, Caruso U, Dorche C, Fortuna R, Minniti G, Selicorni A, Vismara E, Mancini G.
Parini R, et al.
Am J Med Genet. 1997 Dec 19;73(3):272-5. doi: 10.1002/(sici)1096-8628(19971219)73:3<272::aid-ajmg8>3.0.co;2-u.
Am J Med Genet. 1997.
PMID: 9415683
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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH.
Sobacchi C, et al.
Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15.
Nat Genet. 2007.
PMID: 17632511
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