Reinker K - Search Results

1

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Ehtesham N, et al. Among authors: reinker k. Am J Hum Genet. 2002 Oct;71(4):947-51. doi: 10.1086/342669. Epub 2002 Aug 2. Am J Hum Genet. 2002. PMID: 12161821 Free PMC article.

2

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. Cohn DH, et al. Among authors: reinker k. Am J Hum Genet. 2003 Feb;72(2):419-28. doi: 10.1086/346176. Epub 2002 Dec 16. Am J Hum Genet. 2003. PMID: 12491225 Free PMC article.

3

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: reinker k. Am J Hum Genet. 1998 Jul;63(1):120-4. doi: 10.1086/301921. Am J Hum Genet. 1998. PMID: 9634519 Free PMC article.

4

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.

Rimoin DL, Rasmussen IM, Briggs MD, Roughley PJ, Gruber HE, Warman ML, Olsen BR, Hsia YE, Yuen J, Reinker K, et al. Rimoin DL, et al. Among authors: reinker k. Hum Genet. 1994 Mar;93(3):236-42. doi: 10.1007/BF00212015. Hum Genet. 1994. PMID: 7907311

5

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.

Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH. Briggs MD, et al. Among authors: reinker k. Genomics. 1993 Dec;18(3):656-60. doi: 10.1016/s0888-7543(05)80369-6. Genomics. 1993. PMID: 8307576

6

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

Burns C, Powell BR, Hsia YE, Reinker K. Burns C, et al. Among authors: reinker k. J Pediatr Orthop. 2003 Jan-Feb;23(1):88-93. J Pediatr Orthop. 2003. PMID: 12499951 Review.

7

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Gong Y, et al. Among authors: reinker k. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821. Nat Genet. 1999. PMID: 10080184

8

Orthopaedic manifestations of Marinesco-Sjögren syndrome.

Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B, Wilcox WR. Reinker K, et al. J Pediatr Orthop. 2002 May-Jun;22(3):399-403. J Pediatr Orthop. 2002. PMID: 11961464

9

Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.

Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD. Sebold C, et al. Among authors: reinker k. Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597. Am J Med Genet A. 2010. PMID: 20803640

10

Unilateral duplication of the great toe with anterolateral tibial bowing.

Weaver KM, Henry GW, Reinker KA. Weaver KM, et al. Among authors: reinker ka. J Pediatr Orthop. 1996 Jan-Feb;16(1):73-7. doi: 10.1097/00004694-199601000-00015. J Pediatr Orthop. 1996. PMID: 8747359

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