Superti-Furga A - Search Results

1

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.

Speckmann C, Pannicke U, Wiech E, Schwarz K, Fisch P, Friedrich W, Niehues T, Gilmour K, Buiting K, Schlesier M, Eibel H, Rohr J, Superti-Furga A, Gross-Wieltsch U, Ehl S. Speckmann C, et al. Blood. 2008 Nov 15;112(10):4090-7. doi: 10.1182/blood-2008-04-153361. Epub 2008 Aug 26. Blood. 2008. PMID: 18728247 Free article.

2

Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.

Ehl S, Uhl M, Berner R, Bonafé L, Superti-Furga A, Kirchhoff A. Ehl S, et al. Rheumatol Int. 2004 Jan;24(1):53-6. doi: 10.1007/s00296-003-0341-0. Epub 2003 Jun 18. Rheumatol Int. 2004. PMID: 12819927

3

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.

Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Unger S, et al. Nat Genet. 2008 Mar;40(3):287-9. doi: 10.1038/ng.86. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297069

4

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

Horn J, Schlesier M, Warnatz K, Prasse A, Superti-Furga A, Peter HH, Salzer U. Horn J, et al. Hum Immunol. 2010 Sep;71(9):916-9. doi: 10.1016/j.humimm.2010.06.002. Epub 2010 Jun 9. Hum Immunol. 2010. PMID: 20538026

5

Drug dosing error with drops: severe clinical course of codeine intoxication in twins.

Hermanns-Clausen M, Weinmann W, Auwärter V, Ferreirós N, Trittler R, Müller C, Pahl A, Superti-Furga A, Hentschel R. Hermanns-Clausen M, et al. Eur J Pediatr. 2009 Jul;168(7):819-24. doi: 10.1007/s00431-008-0842-7. Epub 2008 Oct 21. Eur J Pediatr. 2009. PMID: 18936971

6

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.

Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Mari F, et al. Eur J Hum Genet. 2009 Sep;17(9):1141-7. doi: 10.1038/ejhg.2009.27. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277063 Free PMC article.

7

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Sass JO, et al. Am J Hum Genet. 2006 Mar;78(3):401-9. doi: 10.1086/500563. Epub 2006 Jan 18. Am J Hum Genet. 2006. PMID: 16465618 Free PMC article.

8

Nosology and classification of genetic skeletal disorders: 2006 revision.

Superti-Furga A, Unger S. Superti-Furga A, et al. Am J Med Genet A. 2007 Jan 1;143A(1):1-18. doi: 10.1002/ajmg.a.31483. Am J Med Genet A. 2007. PMID: 17120245

9

Filamin A mutation is one cause of FG syndrome.

Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ. Unger S, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1876-9. doi: 10.1002/ajmg.a.31751. Am J Med Genet A. 2007. PMID: 17632775

10

Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.

Walter KN, Kienzle FB, Frankenschmidt A, Hiort O, Wudy SA, van der Werf-Grohmann N, Superti-Furga A, Schwab KO. Walter KN, et al. Horm Res Paediatr. 2010;74(1):67-71. doi: 10.1159/000313372. Epub 2010 Apr 16. Horm Res Paediatr. 2010. PMID: 20395661

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