BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 22314436)

  • 21. Direct functional consequences of ZRS enhancer mutation combine with secondary long range SHH signalling effects to cause preaxial polydactyly.
    Johnson EJ; Neely DM; Dunn IC; Davey MG
    Dev Biol; 2014 Aug; 392(2):209-20. PubMed ID: 24907417
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Five-fingered hand associated with partial or complete tibial absence and pre-axial polydactyly. A kindred of 15 affected individuals in five generations.
    Lamb DW; Wynne-Davies R; Whitmore JM
    J Bone Joint Surg Br; 1983 Jan; 65(1):60-3. PubMed ID: 6822603
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A hereditable combination of congenital anomalies.
    Agarwal RP; Jain D; Ramesh Babu CS; Garg RK
    J Bone Joint Surg Br; 1996 May; 78(3):492-4. PubMed ID: 8636194
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
    Dai L; Guo H; Meng H; Zhang K; Hu H; Yao H; Bai Y
    Eur J Pediatr; 2013 Nov; 172(11):1467-73. PubMed ID: 23793141
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events.
    Al-Qattan MM
    Ann Plast Surg; 2013 Jul; 71(1):118-24. PubMed ID: 23364674
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.
    VanderMeer JE; Afzal M; Alyas S; Haque S; Ahituv N; Malik S
    Am J Med Genet A; 2012 Aug; 158A(8):2031-5. PubMed ID: 22786669
    [TBL] [Abstract][Full Text] [Related]  

  • 27. An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.
    Wang B; Diao Y; Liu Q; An H; Ma R; Jiang G; Lai N; Li Z; Zhu X; Zhao L; Guo Q; Zhang Z; Sun R; Li X
    Sci Rep; 2016 Dec; 6():38500. PubMed ID: 27922091
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.
    Farooq M; Troelsen JT; Boyd M; Eiberg H; Hansen L; Hussain MS; Rehman Su; Azhar A; Ali A; Bakhtiar SM; Tommerup N; Baig SM; Kjaer KW
    Eur J Hum Genet; 2010 Jun; 18(6):733-6. PubMed ID: 20068592
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
    Girisha KM; Bidchol AM; Kamath PS; Shah KH; Mortier GR; Mundlos S; Shah H
    Am J Med Genet A; 2014 Apr; 164A(4):898-906. PubMed ID: 24478176
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
    Potuijt JWP; Baas M; Sukenik-Halevy R; Douben H; Nguyen P; Venter DJ; Gallagher R; Swagemakers SM; Hovius SER; van Nieuwenhoven CA; Galjaard RH; van der Spek PJ; Ahituv N; de Klein A
    Genet Med; 2018 Nov; 20(11):1405-1413. PubMed ID: 29543231
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal Thumb.
    Wu PF; Guo S; Fan XF; Fan LL; Jin JY; Tang JY; Xiang R
    Cytogenet Genome Res; 2016; 149(3):171-175. PubMed ID: 27592358
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Unclassified tibial hemimelia.
    Senthil V; Kottamttavide IV; Shah H
    BMJ Case Rep; 2016 Jun; 2016():. PubMed ID: 27277586
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Systematic radiographic evaluation of tibial hemimelia with orthopedic implications.
    Kaplan-List K; Klionsky NB; Sanders JO; Katz ME
    Pediatr Radiol; 2017 Apr; 47(4):473-483. PubMed ID: 28050636
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Tibial hemimelia-split hand/foot syndrome with rare anomalies.
    Managoli SS; Chaturvedi P
    Indian Pediatr; 2005 Feb; 42(2):190-1. PubMed ID: 15767725
    [No Abstract]   [Full Text] [Related]  

  • 35. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
    Shafeghati Y; Kahrizi K; Najmabadi H; Kuss AW; Ropers HH; Tzschach A
    Eur J Pediatr; 2010 Dec; 169(12):1535-9. PubMed ID: 20661588
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
    Klopocki E; Kähler C; Foulds N; Shah H; Joseph B; Vogel H; Lüttgen S; Bald R; Besoke R; Held K; Mundlos S; Kurth I
    Eur J Hum Genet; 2012 Jun; 20(6):705-8. PubMed ID: 22258522
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.
    Albuisson J; Isidor B; Giraud M; Pichon O; Marsaud T; David A; Le Caignec C; Bezieau S
    Clin Genet; 2011 Apr; 79(4):371-7. PubMed ID: 20569257
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
    VanderMeer JE; Lozano R; Sun M; Xue Y; Daentl D; Jabs EW; Wilcox WR; Ahituv N
    Hum Mutat; 2014 Aug; 35(8):945-8. PubMed ID: 24777739
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
    Vargas FR; Roessler E; Gaudenz K; Belloni E; Whitehead AS; Kirke PN; Mills JL; Hooper G; Stevenson RE; Cordeiro I; Correia P; Felix T; Gereige R; Cunningham ML; Canún S; Antonarakis SE; Strachan T; Tsui LC; Scherer SW; Muenke M
    Hum Genet; 1998 Apr; 102(4):387-92. PubMed ID: 9600232
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
    Potuijt JWP; Hoogeboom J; de Graaff E; van Nieuwenhoven CA; Galjaard RJH
    J Med Genet; 2020 Oct; 57(10):660-663. PubMed ID: 32179704
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.