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 *

125 related articles for article (PubMed ID: 36157999)

  • 21. The phenotypic spectrum of Xia-Gibbs syndrome.
    Jiang Y; Wangler MF; McGuire AL; Lupski JR; Posey JE; Khayat MM; Murdock DR; Sanchez-Pulido L; Ponting CP; Xia F; Hunter JV; Meng Q; Murugan M; Gibbs RA
    Am J Med Genet A; 2018 Jun; 176(6):1315-1326. PubMed ID: 29696776
    [TBL] [Abstract][Full Text] [Related]  

  • 22. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
    Yang H; Douglas G; Monaghan KG; Retterer K; Cho MT; Escobar LF; Tucker ME; Stoler J; Rodan LH; Stein D; Marks W; Enns GM; Platt J; Cox R; Wheeler PG; Crain C; Calhoun A; Tryon R; Richard G; Vitazka P; Chung WK
    Cold Spring Harb Mol Case Stud; 2015 Oct; 1(1):a000562. PubMed ID: 27148574
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
    Mubungu G; Makay P; Boujemla B; Yanda S; Posey JE; Lupski JR; Bours V; Lukusa P; Devriendt K; Lumaka A
    Am J Med Genet A; 2021 Mar; 185(3):990-994. PubMed ID: 33372375
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
    Murdock DR; Jiang Y; Wangler M; Khayat MM; Sabo A; Juusola J; McWalter K; Schatz KS; Gunay-Aygun M; Gibbs RA
    Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 30622101
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.
    Gumus E
    Eur J Med Genet; 2020 Jan; 63(1):103637. PubMed ID: 30858058
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
    Carvalho LML; Branco EV; Sarafian RD; Kobayashi GS; de Araújo FT; Santos Souza L; Moreira DP; Hsia GSP; Bertollo EMG; Buck CB; da Costa SS; Fialho DM; de Vasconcelos FTGR; Brito LA; de Souza Fraga Machado LE; Ramos IC; Pereira LDV; Koiffmann CP; E Passos-Bueno MRDS; Oliveira Mendes TA; Krepischi ACV; Rosenberg C
    Gene; 2023 Jun; 871():147424. PubMed ID: 37054903
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management.
    Goyal C; Naqvi W; Sahu A
    Cureus; 2020 Aug; 12(8):e9622. PubMed ID: 32923223
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
    Zardadi S; Rayat S; Doabsari MH; Alishiri A; Keramatipour M; Shahri ZJ; Morovvati S
    BMC Pediatr; 2021 Feb; 21(1):70. PubMed ID: 33557787
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Two novel mutations in the
    Yang H; Lin SZ; Guan SH; Wang WQ; Li JY; Yang GD; Zhang SL
    World J Clin Cases; 2022 Oct; 10(30):11016-11022. PubMed ID: 36338198
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
    Minor A; Shinawi M; Hogue JS; Vineyard M; Hamlin DR; Tan C; Donato K; Wysinger L; Botes S; Das S; Del Gaudio D
    Gene; 2014 Mar; 537(2):279-84. PubMed ID: 24378232
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
    Duan HL; Peng J; Pang N; Chen SM; Xiong J; Guang SQ; Yin F
    Zhonghua Er Ke Za Zhi; 2019 May; 57(5):368-372. PubMed ID: 31060130
    [No Abstract]   [Full Text] [Related]  

  • 32.
    Zhu YY; Sun GL; Yang ZL
    World J Clin Cases; 2021 Jul; 9(21):6081-6090. PubMed ID: 34368330
    [TBL] [Abstract][Full Text] [Related]  

  • 33. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
    Quintero-Rivera F; Xi QJ; Keppler-Noreuil KM; Lee JH; Higgins AW; Anchan RM; Roberts AE; Seong IS; Fan X; Lage K; Lu LY; Tao J; Hu X; Berezney R; Gelb BD; Kamp A; Moskowitz IP; Lacro RV; Lu W; Morton CC; Gusella JF; Maas RL
    Hum Mol Genet; 2015 Apr; 24(8):2375-89. PubMed ID: 25574029
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
    Yi Z; Song Z; Li F; Yang C; Xue J; Li L; Zhang M; Zhang Y
    Int J Dev Neurosci; 2022 May; 82(3):271-276. PubMed ID: 35080253
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel
    Guo HX; Li BW; Hu M; Si SY; Feng K
    World J Clin Cases; 2021 Nov; 9(33):10257-10264. PubMed ID: 34904097
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
    Montgomery ND; Turcott CM; Tepperberg JH; McDonald MT; Aylsworth AS
    Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Latex-Free Anesthesia for Craniosynostosis Surgery Associated With Xia-Gibbs Syndrome: A Case Report.
    Nascimento MS; de Paula SG; Lago Alves TC; Noronha BG; Medeiros H
    Cureus; 2023 Oct; 15(10):e46544. PubMed ID: 37927632
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.
    Du Z; Luo G; Wang K; Bing Z; Pan S
    BMC Pediatr; 2021 Jun; 21(1):291. PubMed ID: 34182956
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.
    Zrhidri A; Jaouad IC; Lyahyai J; Raymond L; Egéa G; Taoudi M; El Mouatassim S; Sefiani A
    Gene; 2017 Sep; 628():190-193. PubMed ID: 28694206
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
    Seifert W; Meinecke P; Krüger G; Rossier E; Heinritz W; Wüsthof A; Horn D
    BMC Med Genet; 2014 Nov; 15():127. PubMed ID: 25433523
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.