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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 24710560)

  • 21. 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]  

  • 22. A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
    Liu M; Zhang X; Liu H; Shen Y
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1392. PubMed ID: 32583964
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.
    Gu Z; Ji B; Wan C; He G; Zhang J; Zhang M; Feng G; He L; Gao L
    Mol Vis; 2010 Feb; 16():154-60. PubMed ID: 20142846
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A new mutation in the gene ROR2 causes brachydactyly type B1.
    Huang D; Jiang S; Zhang Y; Liu X; Zhang J; He R
    Gene; 2014 Aug; 547(1):106-10. PubMed ID: 24954533
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype.
    Si N; Meng X; Zhao Z; Xia W; Zhang X
    J Transl Med; 2019 Apr; 17(1):138. PubMed ID: 31036090
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
    Ozaki N; Okuda H; Kobayashi H; Harada KH; Inoue S; Youssefian S; Koizumi A
    BMC Med Genomics; 2021 Jul; 14(1):190. PubMed ID: 34315464
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
    Yıldırım Y; Ouriachi T; Woehlbier U; Ouahioune W; Balkan M; Malik S; Tolun A
    Eur J Hum Genet; 2018 Jun; 26(6):876-885. PubMed ID: 29581481
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
    Fukushi D; Yamada K; Nomura N; Naiki M; Kimura R; Yamada Y; Kumagai T; Yamaguchi K; Miyake Y; Wakamatsu N
    Am J Med Genet A; 2014 Apr; 164A(4):924-33. PubMed ID: 24478188
    [TBL] [Abstract][Full Text] [Related]  

  • 30. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
    Genovesi ML; Guadagnolo D; Marchionni E; Giovannetti A; Traversa A; Panzironi N; Bernardo S; Palumbo P; Petrizzelli F; Carella M; Mazza T; Pizzuti A; Caputo V
    Bone; 2021 Mar; 144():115803. PubMed ID: 33333243
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
    Sahoo T; Theisen A; Sanchez-Lara PA; Marble M; Schweitzer DN; Torchia BS; Lamb AN; Bejjani BA; Shaffer LG; Lacassie Y
    Am J Med Genet A; 2011 Jul; 155A(7):1646-53. PubMed ID: 21671386
    [TBL] [Abstract][Full Text] [Related]  

  • 32. An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.
    Gu Z; Zhao P; He G; Wan C; Ma G; Yu L; Zhang J; Feng G; He L; Gao L
    Mol Vis; 2011; 17():3200-7. PubMed ID: 22194646
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.
    Dai L; Deng Y; Li N; Xie L; Mao M; Zhu J
    BMC Med Genet; 2013 Apr; 14():45. PubMed ID: 23596994
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel variant of IHH in a Chinese family with brachydactyly type 1.
    Yang Q; Wang J; Tian X; Shen F; Lan J; Zhang Q; Fan X; Yi S; Li M; Shen Y
    BMC Med Genet; 2020 Mar; 21(1):60. PubMed ID: 32209048
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
    Wang K; Wang B; Wang J; Zhou S; Yun B; Suo P; Cheng J; Ma X; Zhu S
    Mol Vis; 2009 Dec; 15():2813-20. PubMed ID: 20019893
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.
    Wang B; Wang KJ; Zhu SQ; Wang J; Ma X
    Ophthalmic Genet; 2012 Sep; 33(3):134-8. PubMed ID: 22216983
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.
    Zhang M; Lu L; Wei B; Zhang Y; Li X; Shi Y; Ge W; Sun M
    Am J Med Genet A; 2020 Oct; 182(10):2432-2436. PubMed ID: 32789964
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification and validation of a regulatory mutation upstream of the BMP2 gene associated with carcass length in pigs.
    Li J; Peng S; Zhong L; Zhou L; Yan G; Xiao S; Ma J; Huang L
    Genet Sel Evol; 2021 Dec; 53(1):94. PubMed ID: 34906088
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Brachydactyly type C due to a nonsense mutation in the GDF5 gene].
    Travieso-Suárez L; Pereda A; Pozo-Román J; Pérez de Nanclares G; Argente J
    An Pediatr (Engl Ed); 2018 Feb; 88(2):107-109. PubMed ID: 28391997
    [No Abstract]   [Full Text] [Related]  

  • 40. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.
    Liu M; Wang X; Cai Z; Tang Z; Cao K; Liang B; Ren X; Liu JY; Wang QK
    J Hum Genet; 2006; 51(8):727-731. PubMed ID: 16871364
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.