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Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A. Garavelli L, et al. Among authors: zabel b. Am J Med Genet A. 2011 Feb;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271649 No abstract available.
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, Zabel B, Superti-Furga A. Vissers LE, et al. Among authors: zabel b. Am J Hum Genet. 2011 May 13;88(5):608-15. doi: 10.1016/j.ajhg.2011.04.002. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549340 Free PMC article.
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. Among authors: zabel b. 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
Nosology and classification of genetic skeletal disorders: 2010 revision.
Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Warman ML, et al. Among authors: zabel b. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438135 Free PMC article. Review.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Among authors: zabel b. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: zabel b. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
TRPV4-associated skeletal dysplasias.
Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S. Nishimura G, et al. Among authors: zabel b. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791502 Review.
Clinical and radiographic delineation of odontochondrodysplasia.
Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A. Unger S, et al. Among authors: zabel b. Am J Med Genet A. 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. Am J Med Genet A. 2008. PMID: 18241073 Free article.
299 results