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

Year Number of Results
1966 1
1972 1
1983 1
1990 1
1991 1
1995 1
1996 1
1999 1
2000 1
2001 2
2005 2
2007 2
2008 2
2010 2
2011 1
2012 1
2013 2
2014 1
2015 3
2016 1
2017 4
2018 3
2019 2
2020 1
2021 1
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2023 2
2024 0

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39 results

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Page 1
[Arthrogryposis multiplex congenita].
Linnet KM, Balslev T, Møller-Madsen B. Linnet KM, et al. Ugeskr Laeger. 2015 Aug 10;177(33):V12140712. Ugeskr Laeger. 2015. PMID: 26320355 Free article. Review. Danish.
Arthrogryposis multiplex congenita (AMC) is a sign rather than a diagnosis. It implies contractures in multiple body areas and occurs in 1:3,000-5,000 live births. Primary aetiologies include neuropathic, myopathic, metabolic, end plate and vascular di
Arthrogryposis multiplex congenita (AMC) is a sign rather than a diagnosis. It implies contractures in multiple body ar
The Hand in Distal Arthrogryposis.
Alzahrani MA, Farr S. Alzahrani MA, et al. J Hand Surg Am. 2022 May;47(5):460-469. doi: 10.1016/j.jhsa.2021.10.027. Epub 2022 Feb 10. J Hand Surg Am. 2022. PMID: 35151520 Review.
Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and is defined as arthrogryposis that affects hands and feet; it is mostly inherited in an autosomal-dominant fashion. This review discusses up-to-date background informat …
Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and is defined as arthrogryposis
Arthrogryposis multiplex congenita.
Mennen U, van Heest A, Ezaki MB, Tonkin M, Gericke G. Mennen U, et al. J Hand Surg Br. 2005 Oct;30(5):468-74. doi: 10.1016/j.jhsb.2005.06.004. J Hand Surg Br. 2005. PMID: 16061316 Review.
Since much confusion exists regarding arthrogryposis multiplex congenita (AMC), the President of the IFSSH commissioned the AMC Committee to compile a report on the various aspects of this condition. ...
Since much confusion exists regarding arthrogryposis multiplex congenita (AMC), the President of the IFSSH commissioned …
Amyoplasia revisited.
Hall JG, Aldinger KA, Tanaka KI. Hall JG, et al. Am J Med Genet A. 2014 Mar;164A(3):700-30. doi: 10.1002/ajmg.a.36395. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459070 Review.
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnosis at this time. ...Among 560 affected individuals, subtypes were identified: four-limb symmetric involvement (331/560 = 55.9%), severe invo …
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnos …
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O. Suzumura H, et al. Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. Adv Exp Med Biol. 2010. PMID: 20687508 Review.
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphis …
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenit …
Arthrogryposis multiplex congenita.
Blattner RJ. Blattner RJ. J Pediatr. 1966 May;68(5):823-5. doi: 10.1016/s0022-3476(66)80464-x. J Pediatr. 1966. PMID: 5325963 Review. No abstract available.
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.
Banushi B, Simpson F. Banushi B, et al. Cells. 2022 Nov 21;11(22):3702. doi: 10.3390/cells11223702. Cells. 2022. PMID: 36429129 Free PMC article. Review.
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Hermansky-Pudlak syndromes, Griscelli syndrome and the Arthrogryposis, Renal dysfunction and Cholestasis syndrome. Each of these disorde …
The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Her …
Congenital myopathies.
Sewry CA, Jimenez-Mallebrera C, Muntoni F. Sewry CA, et al. Curr Opin Neurol. 2008 Oct;21(5):569-75. doi: 10.1097/WCO.0b013e32830f93c7. Curr Opin Neurol. 2008. PMID: 18769251 Review.
The complexity of the classification of these conditions is highlighted by the realization that defects in the same gene can result in diverse phenotypes, including disorders traditionally classified as congenital myopathies with structural abnormalities, adult-onset disorders, c …
The complexity of the classification of these conditions is highlighted by the realization that defects in the same gene can result in diver …
Sorting machineries: how platelet-dense granules differ from α-granules.
Chen Y, Yuan Y, Li W. Chen Y, et al. Biosci Rep. 2018 Sep 7;38(5):BSR20180458. doi: 10.1042/BSR20180458. Print 2018 Oct 31. Biosci Rep. 2018. PMID: 30104399 Free PMC article. Review.
Inherited platelet disorders are associated with deficiency of DGs and AGs, leading to bleeding diathesis in patients with Hermansky-Pudlak syndrome (HPS), gray platelet syndrome (GPS), and arthrogryposis, renal dysfunction, and cholestasis syndrome (ARC). Here, we reviewe …
Inherited platelet disorders are associated with deficiency of DGs and AGs, leading to bleeding diathesis in patients with Hermansky-Pudlak …
39 results