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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 2
1971 3
1972 2
1973 1
1975 2
1976 7
1978 1
1979 3
1982 1
1983 2
1984 1
1985 1
1986 2
1988 2
1992 1
1999 2
2000 1
2002 1
2003 1
2004 1
2006 1
2007 3
2010 1
2011 3
2012 2
2014 2
2015 2
2016 2
2017 3
2018 2
2019 2
2020 2
2021 4
2022 2
2023 2
2024 0

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64 results

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Page 1
Hajdu-Cheney syndrome: a review.
Canalis E, Zanotti S. Canalis E, et al. Orphanet J Rare Dis. 2014 Dec 10;9:200. doi: 10.1186/s13023-014-0200-y. Orphanet J Rare Dis. 2014. PMID: 25491639 Free PMC article. Review.
Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascular defects and polycystic kidneys. ...There is limited informati …
Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specif …
Pycnodysostosis at otorhinolaryngology.
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M. Baglam T, et al. Int J Pediatr Otorhinolaryngol. 2017 Apr;95:91-96. doi: 10.1016/j.ijporl.2017.02.009. Epub 2017 Feb 11. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28576543
Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhino …
Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, man …
A critical review of the epidemiologic literature on health effects of occupational exposure to vinyl chloride.
McLaughlin JK, Lipworth L. McLaughlin JK, et al. J Epidemiol Biostat. 1999;4(4):253-75. J Epidemiol Biostat. 1999. PMID: 10764240 Review.
We have attempted to critically review and summarise the collective epidemiologic evidence concerning the association of occupational vinyl-chloride exposure with human health outcomes, including cancer, liver cirrhosis, cardiovascular disease, nonmalignant respiratory disease an …
We have attempted to critically review and summarise the collective epidemiologic evidence concerning the association of occupational vinyl- …
Acroosteolysis presenting with brachyonychia following exposure to cold.
El-Komy MH, Baran R. El-Komy MH, et al. J Eur Acad Dermatol Venereol. 2015 Nov;29(11):2252-4. doi: 10.1111/jdv.12826. Epub 2014 Nov 10. J Eur Acad Dermatol Venereol. 2015. PMID: 25385354
BACKGROUND: A vast number of conditions ranging from simple trauma to hereditary and collagen vascular disease had been described in association with acroosteolysis. OBJECTIVE: To demonstrate that severe cold exposure not mounting to frostbite may be associated with acr …
BACKGROUND: A vast number of conditions ranging from simple trauma to hereditary and collagen vascular disease had been described in associa …
Acquired acroosteolysis and acronecrosis.
Destouet JM, Murphy WA. Destouet JM, et al. Arthritis Rheum. 1983 Sep;26(9):1150-4. doi: 10.1002/art.1780260914. Arthritis Rheum. 1983. PMID: 6615566 No abstract available.
Clinical and genetic evaluation of Danish patients with pycnodysostosis.
Doherty MA, Langdahl BL, Vogel I, Haagerup A. Doherty MA, et al. Eur J Med Genet. 2021 Feb;64(2):104135. doi: 10.1016/j.ejmg.2021.104135. Epub 2021 Jan 9. Eur J Med Genet. 2021. PMID: 33429075 Free article.
BACKGROUND: Pycnodysostosis is a rare autosomal recessive osteosclerotic skeletal dysplasia caused by variants in the cathepsin K gene (CTSK). Clinical features include short stature, bone fragility, characteristic facial features and acro-osteolysis of the distal phalange …
BACKGROUND: Pycnodysostosis is a rare autosomal recessive osteosclerotic skeletal dysplasia caused by variants in the cathepsin K gene (CTSK …
64 results