BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 36052765)

  • 1. Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.
    Li HW; Ma BX; Kong YM; Zheng H; Zhang XY
    Mol Genet Genomic Med; 2022 Nov; 10(11):e2039. PubMed ID: 36052765
    [TBL] [Abstract][Full Text] [Related]  

  • 2. EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
    Younger G; Vetrini F; Weaver DD; Lynnes TC; Treat K; Pratt VM; Torres-Martinez W
    Am J Med Genet A; 2020 Nov; 182(11):2501-2507. PubMed ID: 32869452
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
    Pacio-Miguez M; Parrón-Pajares M; Gordon CT; Santos-Simarro F; Rodríguez Jiménez C; Mena R; Rueda Arenas I; F Montaño VE; Fernández M; Solís M; Del Pozo Á; Amiel J; García-Miñaur S; Palomares-Bralo M
    Am J Med Genet A; 2022 Sep; 188(9):2819-2824. PubMed ID: 35779070
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further phenotypic features and two novel
    Li S; Zhong Y; Yang Y; He S; He W
    Mol Med Rep; 2021 Jul; 24(1):. PubMed ID: 33955509
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
    Bownass L; Abbs S; Armstrong R; Baujat G; Behzadi G; Berentsen RD; Burren C; Calder A; Cormier-Daire V; Newbury-Ecob R; Foulds N; Juliusson PB; Kant SG; Lefroy H; Mehta SG; Merckoll E; Michot C; Monsell F; Offiah AC; Richards A; Rosendahl K; Rustad CF; Shears D; Tveten K; Wellesley D; Wordsworth P; ; Smithson S
    Am J Med Genet A; 2019 Sep; 179(9):1884-1894. PubMed ID: 31313512
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
    Liu M; Li H; Ren S; Ding C
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2335. PubMed ID: 38284453
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
    Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
    Zhou T; Yang X; Chen Z; Zhou Y; Cao X; Zhao C; Zhao J
    J Clin Lab Anal; 2021 Apr; 35(4):e23728. PubMed ID: 33590889
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
    Burrage LC; Reynolds JJ; Baratang NV; Phillips JB; Wegner J; McFarquhar A; Higgs MR; Christiansen AE; Lanza DG; Seavitt JR; Jain M; Li X; Parry DA; Raman V; Chitayat D; Chinn IK; Bertuch AA; Karaviti L; Schlesinger AE; Earl D; Bamshad M; Savarirayan R; Doddapaneni H; Muzny D; Jhangiani SN; Eng CM; Gibbs RA; Bi W; Emrick L; Rosenfeld JA; Postlethwait J; Westerfield M; Dickinson ME; Beaudet AL; Ranza E; Huber C; Cormier-Daire V; Shen W; Mao R; Heaney JD; Orange JS; ; ; Bertola D; Yamamoto GL; Baratela WAR; Butler MG; Ali A; Adeli M; Cohn DH; Krakow D; Jackson AP; Lees M; Offiah AC; Carlston CM; Carey JC; Stewart GS; Bacino CA; Campeau PM; Lee B
    Am J Hum Genet; 2019 Mar; 104(3):422-438. PubMed ID: 30773277
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.
    Luo ZJ; Li H; Yang L; Kang B; Cai T
    Bone; 2022 Oct; 163():116508. PubMed ID: 35907616
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
    Zhao Q; Xu B; Xiang Q; Tan Y; Xie H; Gao Q; Wen L; Wang H; Yang M; Liu S
    Mol Genet Genomic Med; 2023 Mar; 11(3):e2124. PubMed ID: 36538006
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
    Velasco HM; Ullah E; Martin AM; Hufnagel RB; Prada CE
    Am J Med Genet A; 2020 Oct; 182(10):2214-2221. PubMed ID: 32783359
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
    Royer-Bertrand B; Castillo-Taucher S; Moreno-Salinas R; Cho TJ; Chae JH; Choi M; Kim OH; Dikoglu E; Campos-Xavier B; Girardi E; Superti-Furga G; Bonafé L; Rivolta C; Unger S; Superti-Furga A
    Sci Rep; 2015 Nov; 5():17154. PubMed ID: 26598328
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
    Shao J; Zhao S; Yan Z; Wang L; Zhang Y; Lin M; Yu C; Wang S; Niu Y; Li X; Qiu G; Zhang J; ; Wu Z; Wu N
    BMC Med Genet; 2020 May; 21(1):115. PubMed ID: 32460719
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
    Faden M; AlZahrani F; Mendoza-Londono R; Dupuis L; Hartley T; Kannu P; Raiman JA; Howard A; Qin W; Tetreault M; Xi JQ; Al-Thamer I; ; Maas RL; Boycott K; Alkuraya FS
    Am J Hum Genet; 2015 Oct; 97(4):608-15. PubMed ID: 26365341
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.
    Otaify GA; Al Baluki W; Al-Rashdi S; Al-Maawali A
    Eur J Med Genet; 2022 Dec; 65(12):104640. PubMed ID: 36243336
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
    Ali BR; Silhavy JL; Akawi NA; Gleeson JG; Al-Gazali L
    Orphanet J Rare Dis; 2012 May; 7():27. PubMed ID: 22587682
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J; Yang YD; He Y; Liu WJ; Zhen L; Pan M; Yang X; Zhang VW; Liao C; Li DZ
    Prenat Diagn; 2020 Apr; 40(5):577-584. PubMed ID: 31994750
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
    Yang Q; Qin Z; Zhang Q; Yi S; Yi S; Luo J
    BMC Med Genomics; 2022 Mar; 15(1):67. PubMed ID: 35321723
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel compound heterozygous variant in
    Wang L; Li J; Wu G; Kong X
    J Int Med Res; 2021 Apr; 49(4):3000605211010644. PubMed ID: 33900868
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.