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

Year Number of Results
1976 2
1978 1
1982 1
1983 1
1984 2
1985 4
1986 1
1988 1
1990 2
1991 1
1992 1
1993 1
1994 2
1995 1
1996 5
1997 10
1998 5
1999 1
2000 4
2001 4
2002 2
2003 2
2004 1
2005 6
2006 2
2007 1
2008 1
2009 4
2010 2
2011 4
2013 5
2014 4
2015 5
2016 3
2017 3
2018 7
2019 6
2020 9
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2022 6
2023 3
2024 1

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124 results

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Page 1
Arthrogryposis Multiplex Congenita.
Langston S, Chu A. Langston S, et al. Pediatr Ann. 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01. Pediatr Ann. 2020. PMID: 32674167 Review.
Those infants with syndromic causes of arthrogryposis are more likely to have poor outcomes; therefore, determining the underlying etiology for AMC is important as this can influence counseling regarding individual prognosis as well as future pregnancies. [Pediatr Ann. 202 …
Those infants with syndromic causes of arthrogryposis are more likely to have poor outcomes; therefore, determining the underlying etiology …
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D,… See abstract for full author list ➔ Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for dis …
In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range …
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.
This report discusses all the facets of AMC, including definition, terminology, dermographics, aetiology, classification, clinical features, management, prognosis and further studies. Manipulation of the deformities starting soon after birth improves the range of motion, w …
This report discusses all the facets of AMC, including definition, terminology, dermographics, aetiology, classification, clinical features, …
Arthrogryposis multiplex congenita.
Gordon N. Gordon N. Brain Dev. 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0. Brain Dev. 1998. PMID: 9840670 Review.
The importance of trying to define a cause is especially the need to give reliable genetic advice to the parents and also to establish a prognosis. The diagnosis will often be made by the associated symptoms and signs, and sometimes by tests such as electromyography and mu …
The importance of trying to define a cause is especially the need to give reliable genetic advice to the parents and also to establish a …
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.
Filges I, Tercanli S, Hall JG. Filges I, et al. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):327-336. doi: 10.1002/ajmg.c.31723. Epub 2019 Jul 18. Am J Med Genet C Semin Med Genet. 2019. PMID: 31318155 Review.
This can be apparent at any point, from early to late pregnancy, may range from mild to severe involvement, with or without associated other structural anomalies. Possible etiologies and their prognosis need to be interpreted with respect to developmental timing. The etiol …
This can be apparent at any point, from early to late pregnancy, may range from mild to severe involvement, with or without associated other …
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
Niles KM, Blaser S, Shannon P, Chitayat D. Niles KM, et al. Prenat Diagn. 2019 Aug;39(9):720-731. doi: 10.1002/pd.5505. Epub 2019 Jul 16. Prenat Diagn. 2019. PMID: 31218730 Review.
Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its prognosis and inheritance, which is critical for the obstetrical care providers and families to optimize the pregnancy management and address …
Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its progn …
Arthrogryposis multiplex congenita.
O'Flaherty P. O'Flaherty P. Neonatal Netw. 2001 Jun;20(4):13-20. doi: 10.1891/0730-0832.20.4.13. Neonatal Netw. 2001. PMID: 12143898 Review.
Arthrogryposis multiplex congenita. Review with comment.
Hageman G, Willemse J. Hageman G, et al. Neuropediatrics. 1983 Feb;14(1):6-11. doi: 10.1055/s-2008-1059546. Neuropediatrics. 1983. PMID: 6339980 Review.
Perinatal complications of AMC are common due to malpresentation provoked by the rigid fixated joints. The incidence, heredity, therapy and prognosis are briefly reviewed. Special attention is drawn to CNS aspects: cerebral disorders causing AMC and cerebral complications …
Perinatal complications of AMC are common due to malpresentation provoked by the rigid fixated joints. The incidence, heredity, therapy and …
Growth-Friendly Spine Surgery in Arthrogryposis Multiplex Congenita.
Verhofste BP, Emans JB, Miller PE, Birch CM, Thompson GH, Samdani AF, Sanchez Perez-Grueso FJ, McClung AM, Glotzbecker MP; on behalf of the Pediatric Spine Study Group. Verhofste BP, et al. J Bone Joint Surg Am. 2021 Apr 21;103(8):715-726. doi: 10.2106/JBJS.20.00600. J Bone Joint Surg Am. 2021. PMID: 33475309
Microlissencephaly.
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M. Sztriha L, et al. Pediatr Neurol. 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. Pediatr Neurol. 1998. PMID: 9588537 Review.
124 results