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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

147 related items for PubMed ID: 38790165

  • 1. Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
    Santaniello C, Faversani A, Corsaro L, Melloni G, Motta S, Mandorino E, Sacco D, Stioui S, Ferrara F, Barteselli D, De Vita D, Manuelli D, Costantino L.
    Genes (Basel); 2024 Apr 24; 15(5):. PubMed ID: 38790165
    [Abstract] [Full Text] [Related]

  • 2. Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
    Isrie M, Wuyts W, Van Esch H, Devriendt K.
    Am J Med Genet A; 2014 Jun 24; 164A(6):1576-9. PubMed ID: 24668619
    [Abstract] [Full Text] [Related]

  • 3. A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
    Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM.
    Ophthalmic Genet; 2020 Aug 24; 41(4):377-380. PubMed ID: 32498638
    [Abstract] [Full Text] [Related]

  • 4. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
    Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.
    Am J Hum Genet; 2011 May 13; 88(5):574-85. PubMed ID: 21565291
    [Abstract] [Full Text] [Related]

  • 5. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
    Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W.
    Am J Hum Genet; 2015 Sep 03; 97(3):475-82. PubMed ID: 26299364
    [Abstract] [Full Text] [Related]

  • 6. Mutations in NOTCH1 cause Adams-Oliver syndrome.
    Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS.
    Am J Hum Genet; 2014 Sep 04; 95(3):275-84. PubMed ID: 25132448
    [Abstract] [Full Text] [Related]

  • 7. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
    Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.
    Hum Mutat; 2018 Sep 04; 39(9):1246-1261. PubMed ID: 29924900
    [Abstract] [Full Text] [Related]

  • 8. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
    Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G.
    Am J Med Genet A; 2020 Jan 04; 182(1):29-37. PubMed ID: 31654484
    [Abstract] [Full Text] [Related]

  • 9. A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.
    Yu X, Wang RR, Han SR, Bai X, Habulieti X, Sun Y, Sun LW, Zhang H, Khan A, Zhang X.
    Chin Med J (Engl); 2019 Jul 20; 132(14):1755-1757. PubMed ID: 31261205
    [No Abstract] [Full Text] [Related]

  • 10. Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
    Hassed S, Li S, Mulvihill J, Aston C, Palmer S.
    Am J Med Genet A; 2017 Mar 20; 173(3):790-800. PubMed ID: 28160419
    [Abstract] [Full Text] [Related]

  • 11. Adams-Oliver syndrome.
    Kutlubay Z, Pehlivan Ö.
    Int J Dermatol; 2014 Mar 20; 53(3):352-4. PubMed ID: 24320818
    [No Abstract] [Full Text] [Related]

  • 12. Severe phenotype in two half-sibs with Adams Oliver syndrome.
    Sevilla-Montoya R, Ríos-Flores B, Moreno-Verduzco E, Domínguez-Castro M, Rivera-Pedroza CI, Aguinaga-Ríos DM.
    Arch Argent Pediatr; 2014 Jun 20; 112(3):e108-12. PubMed ID: 24862819
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
    Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS.
    Am J Hum Genet; 2011 Aug 12; 89(2):328-33. PubMed ID: 21820096
    [Abstract] [Full Text] [Related]

  • 15. Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.
    Lukas ML, Harald G, Sanz J, Trippel M, Sabina G, Jochen R.
    Am J Med Genet A; 2022 Nov 12; 188(11):3318-3323. PubMed ID: 36059114
    [Abstract] [Full Text] [Related]

  • 16. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
    Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.
    Circ Cardiovasc Genet; 2015 Aug 12; 8(4):572-581. PubMed ID: 25963545
    [Abstract] [Full Text] [Related]

  • 17. [Adams-Oliver syndrome].
    Bayou F, Boussofara L, Bennani ZL, Ghariani N, Saïdi W, Belajouza C, Denguezli M, Nouira R.
    Ann Dermatol Venereol; 2011 Oct 12; 138(10):712-4. PubMed ID: 21978514
    [No Abstract] [Full Text] [Related]

  • 18. Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
    Wang Z, Wang X, Guiyu Lou, Litao Qin, Shasha Bian, Tang X, Hongjie Zhu, Shengran Wang, Bingtao Hao, Shixiu Liao.
    Gene; 2019 Jun 05; 700():65-69. PubMed ID: 30898718
    [Abstract] [Full Text] [Related]

  • 19. Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome.
    Huang S, Yang L, Zhao L, Xu R, Wu Y.
    DNA Cell Biol; 2020 May 05; 39(5):783-789. PubMed ID: 32129674
    [Abstract] [Full Text] [Related]

  • 20. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
    Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS.
    Eur J Hum Genet; 2014 Mar 05; 22(3):374-8. PubMed ID: 23860037
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.