BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 17569090)

  • 1. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.
    Babbs C; Heller R; Everman DB; Crocker M; Twigg SR; Schwartz CE; Giele H; Wilkie AO
    Hum Genet; 2007 Sep; 122(2):191-9. PubMed ID: 17569090
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.
    David D; Marques B; Ferreira C; Vieira P; Corona-Rivera A; Ferreira JC; van Bokhoven H
    Eur J Hum Genet; 2009 Aug; 17(8):1024-33. PubMed ID: 19223936
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
    Paththinige CS; Sirisena ND; Escande F; Manouvrier S; Petit F; Dissanayake VHW
    BMC Med Genet; 2019 Jun; 20(1):108. PubMed ID: 31200655
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pathogenesis of split-hand/split-foot malformation.
    Duijf PH; van Bokhoven H; Brunner HG
    Hum Mol Genet; 2003 Apr; 12 Spec No 1():R51-60. PubMed ID: 12668597
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
    Klopocki E; Lohan S; Doelken SC; Stricker S; Ockeloen CW; Soares Thiele de Aguiar R; Lezirovitz K; Mingroni Netto RC; Jamsheer A; Shah H; Kurth I; Habenicht R; Warman M; Devriendt K; Kordass U; Hempel M; Rajab A; Mäkitie O; Naveed M; Radhakrishna U; Antonarakis SE; Horn D; Mundlos S
    J Med Genet; 2012 Feb; 49(2):119-25. PubMed ID: 22147889
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
    Ignatius J; Knuutila S; Scherer SW; Trask B; Kere J
    J Med Genet; 1996 Jun; 33(6):507-10. PubMed ID: 8782053
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
    Nagata E; Kano H; Kato F; Yamaguchi R; Nakashima S; Takayama S; Kosaki R; Tonoki H; Mizuno S; Watanabe S; Yoshiura K; Kosho T; Hasegawa T; Kimizuka M; Suzuki A; Shimizu K; Ohashi H; Haga N; Numabe H; Horii E; Nagai T; Yoshihashi H; Nishimura G; Toda T; Takada S; Yokoyama S; Asahara H; Sano S; Fukami M; Ikegawa S; Ogata T
    Orphanet J Rare Dis; 2014 Oct; 9():125. PubMed ID: 25351291
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
    Crackower MA; Scherer SW; Rommens JM; Hui CC; Poorkaj P; Soder S; Cobben JM; Hudgins L; Evans JP; Tsui LC
    Hum Mol Genet; 1996 May; 5(5):571-9. PubMed ID: 8733122
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
    Scherer SW; Poorkaj P; Massa H; Soder S; Allen T; Nunes M; Geshuri D; Wong E; Belloni E; Little S
    Hum Mol Genet; 1994 Aug; 3(8):1345-54. PubMed ID: 7987313
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
    Shen Y; Si N; Liu Z; Liu F; Meng X; Zhang Y; Zhang X
    Orphanet J Rare Dis; 2018 Jul; 13(1):106. PubMed ID: 29970136
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
    Elliott AM; Evans JA
    Am J Med Genet A; 2006 Jul; 140(13):1419-27. PubMed ID: 16688749
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.
    Naveed M; Nath SK; Gaines M; Al-Ali MT; Al-Khaja N; Hutchings D; Golla J; Deutsch S; Bottani A; Antonarakis SE; Ratnamala U; Radhakrishna U
    Am J Hum Genet; 2007 Jan; 80(1):105-11. PubMed ID: 17160898
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.
    Marinoni JC; Boyd E; Sherman S; Schwartz C
    Hum Mol Genet; 1994 Aug; 3(8):1355-7. PubMed ID: 7987314
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.
    Lezirovitz K; Maestrelli SR; Cotrim NH; Otto PA; Pearson PL; Mingroni-Netto RC
    Hum Genet; 2008 Jul; 123(6):625-31. PubMed ID: 18493797
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
    Vervoort VS; Viljoen D; Smart R; Suthers G; DuPont BR; Abbott A; Schwartz CE
    J Med Genet; 2002 Dec; 39(12):893-9. PubMed ID: 12471201
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
    Peng Y; Yang S; Xi H; Hu J; Jia Z; Pang J; Liu J; Yu W; Tang C; Wang H
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1604. PubMed ID: 33471964
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Split-hand/foot malformation - molecular cause and implications in genetic counseling.
    Sowińska-Seidler A; Socha M; Jamsheer A
    J Appl Genet; 2014 Feb; 55(1):105-15. PubMed ID: 24163146
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
    Al Kaissi A; Ganger R; Rötzer KM; Klaushofer K; Grill F
    Am J Med Genet A; 2014 Sep; 164A(9):2338-43. PubMed ID: 24838992
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.
    Dimitrov BI; de Ravel T; Van Driessche J; de Die-Smulders C; Toutain A; Vermeesch JR; Fryns JP; Devriendt K; Debeer P
    J Med Genet; 2010 Feb; 47(2):103-11. PubMed ID: 19584065
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.
    Genuardi M; Pomponi MG; Sammito V; Bellussi A; Zollino M; Neri G
    Am J Med Genet; 1993 Nov; 47(6):823-31. PubMed ID: 8279479
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.