Cohn DH - Search Results

1

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. Melkoniemi M, et al. Among authors: cohn dh. Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950. Eur J Hum Genet. 2003. PMID: 12673280

2

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA. Warman ML, et al. Among authors: cohn dh. Nat Genet. 1993 Sep;5(1):79-82. doi: 10.1038/ng0993-79. Nat Genet. 1993. PMID: 8220429

3

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: cohn dh. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821. Nat Genet. 1999. PMID: 10080184

4

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Colige A, et al. Among authors: cohn dh. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504. Am J Hum Genet. 1999. PMID: 10417273 Free PMC article.

5

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Körkkö J, et al. Among authors: cohn dh. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10797431

6

Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: cohn dh. Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507. Eur J Hum Genet. 2000. PMID: 10951528

7

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Unger S, et al. Among authors: cohn dh. Am J Med Genet. 2001 Nov 22;104(2):140-6. doi: 10.1002/ajmg.10062. Am J Med Genet. 2001. PMID: 11746045

8

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. 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.

9

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias.

Krakow D, Sebald ET, Pogue R, Rimoin LP, King L, Cohn DH. Krakow D, et al. Among authors: cohn dh. Mol Genet Metab. 2003 May;79(1):34-42. doi: 10.1016/s1096-7192(03)00064-7. Mol Genet Metab. 2003. PMID: 12765844

10

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Lachman RS, Krakow D, Cohn DH, Rimoin DL. Lachman RS, et al. Among authors: cohn dh. Pediatr Radiol. 2005 Feb;35(2):116-23. doi: 10.1007/s00247-004-1323-4. Epub 2004 Oct 21. Pediatr Radiol. 2005. PMID: 15503005 Review.

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