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 *

138 related articles for article (PubMed ID: 36113698)

  • 1. Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review.
    Mahmud H; Gustainis D; Jackson-Cook C; Couser N
    J AAPOS; 2023 Jun; 27(3):179-182. PubMed ID: 36113698
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
    Tenorio-Castano J; Gómez ÁS; Coronado M; Rodríguez-Martín P; Parra A; Pascual P; Cazalla M; Gallego N; Arias P; Morales AV; Nevado J; Lapunzina P
    Clin Genet; 2023 Dec; 104(6):637-647. PubMed ID: 37702321
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ophthalmic features of Lamb-Shaffer syndrome: a case series.
    Glidai Y; Aung MH; Edmond J; Lawrence L; Vicente GV; Kodsi SR
    J AAPOS; 2024 Jun; 28(3):103919. PubMed ID: 38631482
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.
    Zhu GQ; Dong P; Li DY; Hu CC; Li HP; Lu P; Pan XX; He LL; Xu X; Xu Q
    BMC Med Genomics; 2023 Feb; 16(1):22. PubMed ID: 36759900
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
    Fukushi D; Yamada K; Suzuki K; Inaba M; Nomura N; Suzuki Y; Katoh K; Mizuno S; Wakamatsu N
    Gene; 2018 May; 655():65-70. PubMed ID: 29477873
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
    Zawerton A; Mignot C; Sigafoos A; Blackburn PR; Haseeb A; McWalter K; Ichikawa S; Nava C; Keren B; Charles P; Marey I; Tabet AC; Levy J; Perrin L; Hartmann A; Lesca G; Schluth-Bolard C; Monin P; Dupuis-Girod S; Guillen Sacoto MJ; Schnur RE; Zhu Z; Poisson A; El Chehadeh S; Alembik Y; Bruel AL; Lehalle D; Nambot S; Moutton S; Odent S; Jaillard S; Dubourg C; Hilhorst-Hofstee Y; Barbaro-Dieber T; Ortega L; Bhoj EJ; Masser-Frye D; Bird LM; Lindstrom K; Ramsey KM; Narayanan V; Fassi E; Willing M; Cole T; Salter CG; Akilapa R; Vandersteen A; Canham N; Rump P; Gerkes EH; Klein Wassink-Ruiter JS; Bijlsma E; Hoffer MJV; Vargas M; Wojcik A; Cherik F; Francannet C; Rosenfeld JA; Machol K; Scott DA; Bacino CA; Wang X; Clark GD; Bertoli M; Zwolinski S; Thomas RH; Akay E; Chang RC; Bressi R; Sanchez Russo R; Srour M; Russell L; Goyette AE; Dupuis L; Mendoza-Londono R; Karimov C; Joseph M; Nizon M; Cogné B; Kuechler A; Piton A; ; Klee EW; Lefebvre V; Clark KJ; Depienne C
    Genet Med; 2020 Mar; 22(3):524-537. PubMed ID: 31578471
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
    Edgerley K; Bryson L; Hanington L; Irving R; Joss S; Lampe A; Maystadt I; Osio D; Richardson R; Split M; Sansbury FH; Scurr I; Stewart H; McNeil A; Low K
    Am J Med Genet A; 2023 May; 191(5):1447-1458. PubMed ID: 36861937
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
    Shankar SP; Fallurin R; Watson T; Shankar PR; Young TL; Orel-Bixler D; Rauen KA
    Ophthalmic Genet; 2022 Feb; 43(1):48-57. PubMed ID: 34612139
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A SOX5 gene variant as a possible contributor to short stature.
    Gkirgkinoudis A; Tatsi C; DeWard SJ; Friedman B; Faucz FR; Stratakis CA
    Endocrinol Diabetes Metab Case Rep; 2020 Dec; 2020():. PubMed ID: 33434147
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ocular Phenotype Associated with
    Méjécase C; Way CM; Owen N; Moosajee M
    Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33562844
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ocular manifestations in Wolf-Hirschhorn syndrome.
    Dickmann A; Parrilla R; Salerni A; Savino G; Vasta I; Zollino M; Petroni S; Zampino G
    J AAPOS; 2009 Jun; 13(3):264-7. PubMed ID: 19541266
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family].
    Cao J; Li J; Zhang Y; Niu H; Zhou Y; Li Z; Sun B; Li Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug; 38(8):765-767. PubMed ID: 34365620
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.
    Sahni DR; Wallace M; Kanhere M; Al Saif H; Couser N
    Case Rep Ophthalmol Med; 2018; 2018():5969157. PubMed ID: 30050712
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ocular status of boys with fragile X syndrome: a prospective study.
    Hatton DD; Buckley E; Lachiewicz A; Roberts J
    J AAPOS; 1998 Oct; 2(5):298-302. PubMed ID: 10646752
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Distinct ocular expression in infants and children with Down syndrome in Cairo, Egypt: myopia and heart disease.
    Afifi HH; Abdel Azeem AA; El-Bassyouni HT; Gheith ME; Rizk A; Bateman JB
    JAMA Ophthalmol; 2013 Aug; 131(8):1057-66. PubMed ID: 23764677
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ophthalmic manifestations of Smith-Magenis syndrome.
    Chen RM; Lupski JR; Greenberg F; Lewis RA
    Ophthalmology; 1996 Jul; 103(7):1084-91. PubMed ID: 8684798
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ocular findings in pediatric turner syndrome.
    Huang J; Basith SST; Patel S; Goetsch Weisman A; Brickman W; Mets MB; Mets-Halgrimson R
    Ophthalmic Genet; 2022 Aug; 43(4):450-453. PubMed ID: 35382690
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
    Swarr DT; Bloom D; Lewis RA; Elenberg E; Friedman EM; Glotzbach C; Wissman SD; Shaffer LG; Potocki L
    Am J Med Genet A; 2010 Mar; 152A(3):565-72. PubMed ID: 20140962
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
    Nesbitt A; Bhoj EJ; McDonald Gibson K; Yu Z; Denenberg E; Sarmady M; Tischler T; Cao K; Dubbs H; Zackai EH; Santani A
    Am J Med Genet A; 2015 Nov; 167A(11):2548-54. PubMed ID: 26111154
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Optometric findings in the fragile X syndrome.
    Maino DM; Wesson M; Schlange D; Cibis G; Maino JH
    Optom Vis Sci; 1991 Aug; 68(8):634-40. PubMed ID: 1923341
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.