BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 11.