BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 34953066)

  • 1. A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
    Shen F; Yang Y; Li P; Zheng Y; Luo Z; Fu Y; Zhu G; Mei H; Chen S; Zhu Y
    Mol Genet Genomic Med; 2022 Jan; 10(1):e1850. PubMed ID: 34953066
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
    Yang Y; Zheng Y; Li W; Li L; Tu M; Zhao L; Mei H; Zhu G; Zhu Y
    Genet Med; 2019 Nov; 21(11):2577-2585. PubMed ID: 31138930
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homozygous
    Luyckx I; Walton IS; Boeckx N; Van Schil K; Pang C; De Praeter M; Lord H; Watson CM; Bonthron DT; Van Laer L; Wilkie AOM; Loeys B
    J Med Genet; 2024 Mar; 61(4):363-368. PubMed ID: 38290823
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants.
    Shen F; Yang Y; Zheng Y; Li P; Luo Z; Fu Y; Zhu G; Mei H; Chen S; Zhu Y
    Genet Med; 2022 May; 24(5):1139-1147. PubMed ID: 35219593
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
    Calpena E; Cuellar A; Bala K; Swagemakers SMA; Koelling N; McGowan SJ; Phipps JM; Balasubramanian M; Cunningham ML; Douzgou S; Lattanzi W; Morton JEV; Shears D; Weber A; Wilson LC; Lord H; Lester T; Johnson D; Wall SA; Twigg SRF; Mathijssen IMJ; Boardman-Pretty F; ; Boyadjiev SA; Wilkie AOM
    Genet Med; 2020 Sep; 22(9):1498-1506. PubMed ID: 32499606
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
    Kloth K; Bierhals T; Johannsen J; Harms FL; Juusola J; Johnson MC; Grange DK; Kutsche K
    Hum Genet; 2019 Jun; 138(6):625-634. PubMed ID: 30963242
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital Proximal Radioulnar Synostosis in an Elite Athlete-Case Report.
    Chandoga I; Petrovič R; Varga I; Šteňo B; Šteňová E
    Medicina (Kaunas); 2023 Mar; 59(3):. PubMed ID: 36984532
    [No Abstract]   [Full Text] [Related]  

  • 8. ZMAT2, a newly-identified potential disease-causing gene in congenital radioulnar synostosis, modulates BMP signaling.
    Suzuki T; Nakano M; Komatsu M; Takahashi J; Kato H; Nakamura Y
    Bone; 2020 Jul; 136():115349. PubMed ID: 32247068
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal dominant and sporadic radio-ulnar synostosis.
    Rizzo R; Pavone V; Corsello G; Sorge G; Neri G; Opitz JM
    Am J Med Genet; 1997 Jan; 68(2):127-34. PubMed ID: 9028445
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5.
    Debeer P; De Smet L; Fryns JP
    Genet Couns; 2004; 15(1):67-71. PubMed ID: 15083702
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Radioulnar synostosis and XYY syndrome.
    Franceschini P; Licata D; Guala A; Di Cara G; Franceschini D
    Clin Dysmorphol; 2000 Jan; 9(1):77. PubMed ID: 10649807
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Unilateral radio-ulnar synostosis and idic-Y chromosome.
    De Smet L; Fryns JP
    Genet Couns; 2008; 19(4):425-7. PubMed ID: 19239087
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.
    Walne A; Tummala H; Ellison A; Cardoso S; Sidhu J; Sciuccati G; Vulliamy T; Dokal I
    Haematologica; 2018 Jul; 103(7):e284-e287. PubMed ID: 29519864
    [No Abstract]   [Full Text] [Related]  

  • 14. SMAD6-deficiency in human genetic disorders.
    Luyckx I; Verstraeten A; Goumans MJ; Loeys B
    NPJ Genom Med; 2022 Nov; 7(1):68. PubMed ID: 36414630
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
    Niihori T; Ouchi-Uchiyama M; Sasahara Y; Kaneko T; Hashii Y; Irie M; Sato A; Saito-Nanjo Y; Funayama R; Nagashima T; Inoue S; Nakayama K; Ozono K; Kure S; Matsubara Y; Imaizumi M; Aoki Y
    Am J Hum Genet; 2015 Dec; 97(6):848-54. PubMed ID: 26581901
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Radioulnar synostosis as characteristic feature of chromosome aberrations (author's transl)].
    Küsswetter W; Heisel A
    Z Orthop Ihre Grenzgeb; 1981 Feb; 119(1):10-3. PubMed ID: 7281903
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis.
    Nakasone M; Nakasone S; Kinjo M; Murase T; Kanaya F
    J Hand Surg Eur Vol; 2018 Sep; 43(7):739-743. PubMed ID: 29402171
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two locus inheritance of non-syndromic midline craniosynostosis via rare
    Timberlake AT; Choi J; Zaidi S; Lu Q; Nelson-Williams C; Brooks ED; Bilguvar K; Tikhonova I; Mane S; Yang JF; Sawh-Martinez R; Persing S; Zellner EG; Loring E; Chuang C; Galm A; Hashim PW; Steinbacher DM; DiLuna ML; Duncan CC; Pelphrey KA; Zhao H; Persing JA; Lifton RP
    Elife; 2016 Sep; 5():. PubMed ID: 27606499
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Idiopathic distal radioulnar synostosis.
    Shoham Y; Gurfinkel R; Sagi A
    J Plast Surg Hand Surg; 2014 Feb; 48(1):89-90. PubMed ID: 23789710
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome.
    Syed AA; Quinton R
    Fertil Steril; 2008 Aug; 90(2):425-6. PubMed ID: 18177653
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.