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Page 1
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331. Am J Med Genet A. 2006. PMID: 16838329
Brachy-syndactyly caused by loss of Sfrp2 function.
Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Morello R, et al. Among authors: hermanns p. J Cell Physiol. 2008 Oct;217(1):127-37. doi: 10.1002/jcp.21483. J Cell Physiol. 2008. PMID: 18446812 Free PMC article.
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Mendoza-Londono R, et al. Among authors: hermanns p. Am J Hum Genet. 2005 Jul;77(1):161-8. doi: 10.1086/431654. Epub 2005 May 27. Am J Hum Genet. 2005. PMID: 15924278 Free PMC article.
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. Williams MS, et al. Among authors: hermanns p. Am J Med Genet A. 2005 Sep 15;138(1):35-40. doi: 10.1002/ajmg.a.30902. Am J Med Genet A. 2005. PMID: 16097009
Expression profiling of human fetal growth plate cartilage by EST sequencing.
Tagariello A, Schlaubitz S, Hankeln T, Mohrmann G, Stelzer C, Schweizer A, Hermanns P, Lee B, Schmidt ER, Winterpacht A, Zabel B. Tagariello A, et al. Among authors: hermanns p. Matrix Biol. 2005 Dec;24(8):530-8. doi: 10.1016/j.matbio.2005.08.002. Epub 2005 Sep 19. Matrix Biol. 2005. PMID: 16176871
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. Hermanns P, et al. Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Am J Hum Genet. 2008. PMID: 18513679 Free PMC article.
54 results