These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
125 related articles for article (PubMed ID: 21572057)
1. A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia. Liewluck T; Sacharow SJ; Fan Y; Lopez-Alberola R J Child Neurol; 2011 Aug; 26(8):1005-8. PubMed ID: 21572057 [TBL] [Abstract][Full Text] [Related]
2. Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. Hall JG; Reed SD; McGillivray BC; Herrmann J; Partington MW; Schinzel A; Shapiro J; Weaver DD Am J Med Genet; 1983 Aug; 15(4):591-9. PubMed ID: 6684397 [TBL] [Abstract][Full Text] [Related]
3. Neurogenic arthrogryposis multiplex congenita and velopharyngeal incompetence associated with chromosome 22q11.2 deletion. Castro-Gago M; Iglesias-Meleiro JM; Blanco-Barca MO; Grande-Seijo M; Barros-Angueira F; Eirís-Puñal J J Child Neurol; 2005 Jan; 20(1):76-8. PubMed ID: 15791927 [TBL] [Abstract][Full Text] [Related]
4. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. Hall JG; Reed SD; Driscoll EP Am J Med Genet; 1983 Aug; 15(4):571-90. PubMed ID: 6614047 [TBL] [Abstract][Full Text] [Related]
5. Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. Tabet AC; Aboura A; Gérard M; Pilorge M; Dupont C; Gadisseux JF; Hervy N; Pipiras E; Delahaye A; Kanafani S; Verloes A; Benzacken B; Betancur C Am J Med Genet A; 2010 Jul; 152A(7):1781-8. PubMed ID: 20583184 [TBL] [Abstract][Full Text] [Related]
6. De novo microduplication at 22q11.21 in a patient with VACTERL association. Schramm C; Draaken M; Bartels E; Boemers TM; Aretz S; Brockschmidt FF; Nöthen MM; Ludwig M; Reutter H Eur J Med Genet; 2011; 54(1):9-13. PubMed ID: 20849991 [TBL] [Abstract][Full Text] [Related]
7. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018 [TBL] [Abstract][Full Text] [Related]
8. [Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis]. Petru R; Verrips A; van Ravenswaaij CM Ned Tijdschr Geneeskd; 2002 Oct; 146(40):1883-6. PubMed ID: 12395596 [TBL] [Abstract][Full Text] [Related]
9. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. Ramelli GP; Silacci C; Ferrarini A; Cattaneo C; Visconti P; Pescia G Dev Med Child Neurol; 2008 Dec; 50(12):953-5. PubMed ID: 19046189 [TBL] [Abstract][Full Text] [Related]
10. Amyoplasia revisited. Hall JG; Aldinger KA; Tanaka KI Am J Med Genet A; 2014 Mar; 164A(3):700-30. PubMed ID: 24459070 [TBL] [Abstract][Full Text] [Related]
11. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication. Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777 [TBL] [Abstract][Full Text] [Related]
12. Genetics and Classifications. Hall JG; Kimber E; van Bosse HJP J Pediatr Orthop; 2017; 37 Suppl 1():S4-S8. PubMed ID: 28594686 [TBL] [Abstract][Full Text] [Related]
13. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation. Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651 [TBL] [Abstract][Full Text] [Related]
15. Microduplication 22q11.2: a new chromosomal syndrome. Portnoï MF Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783 [TBL] [Abstract][Full Text] [Related]
16. 22q11.2 Microduplication with thyroid hemiagenesis. Kim HJ; Jo HS; Yoo EG; Chung IH; Kim SW; Lee KH; Chang YH Horm Res Paediatr; 2013; 79(4):243-9. PubMed ID: 23364243 [TBL] [Abstract][Full Text] [Related]
17. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth. Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824 [TBL] [Abstract][Full Text] [Related]
18. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment. Pebrel-Richard C; Kemeny S; Gouas L; Eymard-Pierre E; Blanc N; Francannet C; Tchirkov A; Goumy C; Vago P Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526 [TBL] [Abstract][Full Text] [Related]
19. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. Chang J; Zhao L; Chen C; Peng Y; Xia Y; Tang G; Bai T; Zhang Y; Ma R; Guo R; Mei L; Liang D; Cao Q; Wu L Gene; 2015 Sep; 569(1):46-50. PubMed ID: 26099517 [TBL] [Abstract][Full Text] [Related]
20. Arthrogryposis multiplex congenita: report of a case of amyoplasia. Yang MT; Chen CH; Mak SC; Wu KH; Chi CS Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1993; 34(2):132-6. PubMed ID: 8372669 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]