Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1994 | 1 |
2005 | 1 |
2013 | 1 |
2015 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Dyggve-Melchior-Clausen syndrome, X-linked"
Page 1
Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
Orthop Traumatol Surg Res. 2013 Oct;99(6):745-8. doi: 10.1016/j.otsr.2013.04.006. Epub 2013 Sep 12.
Orthop Traumatol Surg Res. 2013.
PMID: 24035654
Free article.
Review.
Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bilateral hip degeneration and dislocation. ...
Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bi …
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M.
Varshney K, et al.
J Med Genet. 2023 Feb;60(2):204-211. doi: 10.1136/jmedgenet-2021-108098. Epub 2022 Apr 27.
J Med Genet. 2023.
PMID: 35477554
Item in Clipboard
Single-strand conformation polymorphism analysis of human decorin, biglycan and fibromodulin cDNAs.
Sztrolovics R, Rimoin DL, Rodriguez E, Roughley RJ.
Sztrolovics R, et al.
Matrix Biol. 1994 Aug;14(4):307-12. doi: 10.1016/0945-053x(94)90196-1.
Matrix Biol. 1994.
PMID: 7827753
Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrom …
Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of conn …
Item in Clipboard
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.
Toru HS, Nur BG, Sanhal CY, Mihci E, Mendilcioğlu İ, Yilmaz E, Yilmaz GT, Ozbudak IH, Karaali K, Alper OM, Karaveli FŞ.
Toru HS, et al.
Fetal Pediatr Pathol. 2015;34(5):287-306. doi: 10.3109/15513815.2015.1068414. Epub 2015 Aug 20.
Fetal Pediatr Pathol. 2015.
PMID: 26376227
SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior- …
SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4 …
Item in Clipboard
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V.
Geneviève D, et al.
Eur J Hum Genet. 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339.
Eur J Hum Genet. 2005.
PMID: 15726110
Free article.
Among them, several conditions also include a mental retardation (MR) syndrome, namely Wolcott-Rallison syndrome, Dyggve-Melchior-Clausen syndrome (DMC) and lysosomal storage disorders. ...
Among them, several conditions also include a mental retardation (MR) syndrome, namely Wolcott-Rallison syndrome, Dyggve-Melchior …
Item in Clipboard
Cite
Cite