Warman ML - Search Results

1

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Sirko-Osadsa DA, et al. Among authors: warman ml. J Pediatr. 1998 Feb;132(2):368-71. doi: 10.1016/s0022-3476(98)70466-4. J Pediatr. 1998. PMID: 9506662

2

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: warman ml. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549

3

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.

Falk MJ, Heeger S, Lynch KA, DeCaro KR, Bohach D, Gibson KS, Warman ML. Falk MJ, et al. Among authors: warman ml. Pediatrics. 2003 Mar;111(3):573-8. doi: 10.1542/peds.111.3.573. Pediatrics. 2003. PMID: 12612238 Clinical Trial.

4

Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling.

Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML. Ai M, et al. Among authors: warman ml. Mol Cell Biol. 2005 Jun;25(12):4946-55. doi: 10.1128/MCB.25.12.4946-4955.2005. Mol Cell Biol. 2005. PMID: 15923613 Free PMC article.

5

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding.

Marcelino J, Sciortino CM, Romero MF, Ulatowski LM, Ballock RT, Economides AN, Eimon PM, Harland RM, Warman ML. Marcelino J, et al. Among authors: warman ml. Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11353-8. doi: 10.1073/pnas.201367598. Epub 2001 Sep 18. Proc Natl Acad Sci U S A. 2001. PMID: 11562478 Free PMC article.

6

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Luks VL, et al. Among authors: warman ml. J Pediatr. 2015 Apr;166(4):1048-54.e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. J Pediatr. 2015. PMID: 25681199 Free PMC article.

7

Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13.

Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Neilson DE, et al. Among authors: warman ml. Ann Neurol. 2004 Feb;55(2):291-4. doi: 10.1002/ana.10849. Ann Neurol. 2004. PMID: 14755735

8

Cohen syndrome in the Ohio Amish.

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Falk MJ, et al. Among authors: warman ml. Am J Med Genet A. 2004 Jul 1;128A(1):23-8. doi: 10.1002/ajmg.a.30033. Am J Med Genet A. 2004. PMID: 15211651

9

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.

Okajima K, Warman ML, Byrne LC, Kerr DS. Okajima K, et al. Among authors: warman ml. Mol Genet Metab. 2006 Feb;87(2):162-8. doi: 10.1016/j.ymgme.2005.09.023. Epub 2006 Jan 18. Mol Genet Metab. 2006. PMID: 16412675

10

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.

Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD. Rhee DK, et al. Among authors: warman ml. J Clin Invest. 2005 Mar;115(3):622-31. doi: 10.1172/JCI22263. J Clin Invest. 2005. PMID: 15719068 Free PMC article.

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