220 related articles for article (PubMed ID: 35052370)
41. A recessive form of congenital contractures and torticollis associated with malignant hyperthermia.
Froster-Iskenius UG; Waterson JR; Hall JG
J Med Genet; 1988 Feb; 25(2):104-12. PubMed ID: 3346884
[TBL] [Abstract][Full Text] [Related]
42. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.
Chung BH; Bradley T; Grosse-Wortmann L; Blaser S; Dirks P; Hinek A; Chitayat D
Am J Med Genet A; 2014 Feb; 164A(2):461-6. PubMed ID: 24194458
[TBL] [Abstract][Full Text] [Related]
43. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
Krakowiak PA; Bohnsack JF; Carey JC; Bamshad M
Am J Med Genet; 1998 Feb; 76(1):93-8. PubMed ID: 9508073
[TBL] [Abstract][Full Text] [Related]
44. Limb pterygium syndromes: a review and report of eleven patients.
Hall JG; Reed SD; Rosenbaum KN; Gershanik J; Chen H; Wilson KM
Am J Med Genet; 1982 Aug; 12(4):377-409. PubMed ID: 7124793
[TBL] [Abstract][Full Text] [Related]
45. [Multiple pterygium syndrome].
Anichini C; Tomaccini D; Scarinci R; Vivarelli R
Pediatr Med Chir; 1986; 8(6):881-4. PubMed ID: 3601719
[TBL] [Abstract][Full Text] [Related]
46. 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]
47. Neuromotor synapses in Escobar syndrome.
Robinson KG; Viereck MJ; Margiotta MV; Gripp KW; Abdul-Rahman OA; Akins RE
Am J Med Genet A; 2013 Dec; 161A(12):3042-8. PubMed ID: 24038971
[TBL] [Abstract][Full Text] [Related]
48. Lethal multiple pterygium syndrome.
Mohtisham FS; Sallam A; Shawli A
BMJ Case Rep; 2019 May; 12(5):. PubMed ID: 31068350
[TBL] [Abstract][Full Text] [Related]
49. A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Xu Y; Kang QL; Zhang ZL
Neuromuscul Disord; 2018 May; 28(5):456-462. PubMed ID: 29625835
[TBL] [Abstract][Full Text] [Related]
50. A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
Stevenson DA; Swoboda KJ; Sanders RK; Bamshad M
Am J Med Genet A; 2006 Dec; 140(24):2797-801. PubMed ID: 17103435
[TBL] [Abstract][Full Text] [Related]
51. Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.
Rajab A; Hoffmann K; Ganesh A; Sethu AU; Mundlos S
Am J Med Genet A; 2005 Apr; 134A(2):151-7. PubMed ID: 15704180
[TBL] [Abstract][Full Text] [Related]
52. PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T; Takano K; Inaba Y; Morikawa M; Motobayashi M; Kawamura R; Wakui K; Nishi E; Hirabayashi SI; Fukushima Y; Kato H; Takahashi J; Kosho T
Am J Med Genet A; 2019 Jun; 179(6):948-957. PubMed ID: 30941898
[TBL] [Abstract][Full Text] [Related]
53. Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
He QB; Wu CH; Sun DL; Yuan JY; Hu HY; Yang K; Chen WQ; Yan YS; Yin GY; Zhang J; Li YZ
Mol Genet Genomic Med; 2024 Mar; 12(3):e2401. PubMed ID: 38444278
[TBL] [Abstract][Full Text] [Related]
54. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.
Zapata-Aldana E; Al-Mobarak SB; Karp N; Campbell C
Am J Med Genet A; 2019 Jun; 179(6):1034-1041. PubMed ID: 30938034
[TBL] [Abstract][Full Text] [Related]
55. Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
Gowda M; Mohan S; Ramesh D; Chinta N
Clin Dysmorphol; 2021 Apr; 30(2):100-103. PubMed ID: 33491998
[TBL] [Abstract][Full Text] [Related]
56. Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
Kariminejad A; Ghaderi-Sohi S; Hossein-Nejad Nedai H; Varasteh V; Moslemi AR; Tajsharghi H
BMC Musculoskelet Disord; 2016 Mar; 17():109. PubMed ID: 26932181
[TBL] [Abstract][Full Text] [Related]
57. A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita.
Hansen-Jaumard D; Elfassy C; Montpetit K; Ghalimah B; Hamdy R; Dahan-Oliel N
J Pediatr Rehabil Med; 2020; 13(3):263-271. PubMed ID: 33104047
[TBL] [Abstract][Full Text] [Related]
58. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
Jiang M; Zhao X; Han W; Bian C; Li X; Wang G; Ao Y; Li Y; Yi D; Zhe Y; Lo WH; Zhang X; Li J
Hum Genet; 2006 Sep; 120(2):238-42. PubMed ID: 16802141
[TBL] [Abstract][Full Text] [Related]
59. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X; Jiang M; Han W; Zhao N; Liu W; Sui Y; Lu Y; Li J
Gene; 2013 Sep; 527(2):630-5. PubMed ID: 23850728
[TBL] [Abstract][Full Text] [Related]
60. Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ; Below JE; Shively KM; Beck AE; Gildersleeve HI; Pinner J; Gogola GR; Hecht JT; Grange DK; Harris DJ; Earl DL; Jagadeesh S; Mehta SG; Robertson SP; Swanson JM; Faustman EM; Mefford HC; Shendure J; Nickerson DA; Bamshad MJ;
Am J Hum Genet; 2013 Jan; 92(1):150-6. PubMed ID: 23261301
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]