Cohn DH - Search Results

1

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.

Bosakova M, Abraham SP, Nita A, Hruba E, Buchtova M, Taylor SP, Duran I, Martin J, Svozilova K, Barta T, Varecha M, Balek L, Kohoutek J, Radaszkiewicz T, Pusapati GV, Bryja V, Rush ET, Thiffault I, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Rohatgi R, Cohn DH, Krakow D, Krejci P. Bosakova M, et al. Among authors: cohn dh. EMBO Mol Med. 2020 Nov 6;12(11):e11739. doi: 10.15252/emmm.201911739. Epub 2020 Oct 14. EMBO Mol Med. 2020. PMID: 33200460 Free PMC article.

2

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.

Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. Faiyaz ul Haque M, et al. Among authors: cohn dh. Nat Genet. 1998 Oct;20(2):157-62. doi: 10.1038/2458. Nat Genet. 1998. PMID: 9771708

3

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

4

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

5

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.

6

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

7

Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library.

Sebald E, Krueger R, King LM, Cohn DH, Krakow D. Sebald E, et al. Among authors: cohn dh. Gene. 2003 Jun 5;311:147-51. doi: 10.1016/s0378-1119(03)00584-5. Gene. 2003. PMID: 12853149

8

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: cohn dh. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055

9

A transcriptional profile of human fetal cartilage.

Pogue R, Sebald E, King L, Kronstadt E, Krakow D, Cohn DH. Pogue R, et al. Among authors: cohn dh. Matrix Biol. 2004 Aug;23(5):299-307. doi: 10.1016/j.matbio.2004.07.003. Matrix Biol. 2004. PMID: 15464362

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

166 results

Search Page