Schwabe G - Search Results

1

Genetic analysis of adults heterozygous for ALPL mutations.

Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: schwabe g. J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13. J Bone Miner Metab. 2018. PMID: 29236161

2

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. Schwabe GC, et al. Hum Mutat. 2008 Feb;29(2):289-98. doi: 10.1002/humu.20656. Hum Mutat. 2008. PMID: 18022865

3

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L. Reuter MS, et al. Among authors: schwabe gc. Eur J Med Genet. 2013 Dec;56(12):669-73. doi: 10.1016/j.ejmg.2013.10.002. Epub 2013 Oct 17. Eur J Med Genet. 2013. PMID: 24140640

4

Genetics of congenital hand anomalies.

Schwabe GC, Mundlos S. Schwabe GC, et al. Handchir Mikrochir Plast Chir. 2004 Apr-Jun;36(2-3):85-97. doi: 10.1055/s-2004-817884. Handchir Mikrochir Plast Chir. 2004. PMID: 15162306 Review.

5

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, Mundlos S. Schwabe GC, et al. Am J Med Genet A. 2004 Feb 1;124A(4):356-63. doi: 10.1002/ajmg.a.20349. Am J Med Genet A. 2004. PMID: 14735582

6

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S. Schwabe GC, et al. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986040 Free PMC article.

7

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.

Albrecht AN, Schwabe GC, Stricker S, Böddrich A, Wanker EE, Mundlos S. Albrecht AN, et al. Mech Dev. 2002 Mar;112(1-2):53-67. doi: 10.1016/s0925-4773(01)00639-6. Mech Dev. 2002. PMID: 11850178 Free article.

8

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.

Schwabe GC, Trepczik B, Süring K, Brieske N, Tucker AS, Sharpe PT, Minami Y, Mundlos S. Schwabe GC, et al. Dev Dyn. 2004 Feb;229(2):400-10. doi: 10.1002/dvdy.10466. Dev Dyn. 2004. PMID: 14745966 Free article.

9

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.

Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S. Niedermaier M, et al. Among authors: schwabe gc. J Clin Invest. 2005 Apr;115(4):900-9. doi: 10.1172/JCI23675. J Clin Invest. 2005. PMID: 15841179 Free PMC article.

10

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Kjaer KW, et al. Among authors: schwabe gc. J Med Genet. 2005 Apr;42(4):292-8. doi: 10.1136/jmg.2004.027821. J Med Genet. 2005. PMID: 15805154 Free PMC article.

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