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 *

89 related articles for article (PubMed ID: 32612438)

  • 1. Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay.
    Turan B; Akinci MA; Esin IS; Dursun OB
    Eurasian J Med; 2020 Jun; 52(2):229-230. PubMed ID: 32612438
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
    Shieh JT; Aradhya S; Novelli A; Manning MA; Cherry AM; Brumblay J; Salpietro CD; Bernardini L; Dallapiccola B; Hoyme HE
    Am J Med Genet A; 2006 Jun; 140(12):1267-73. PubMed ID: 16691576
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review.
    Bas A; Sarac F; Derelioglu S
    J Clin Pediatr Dent; 2023 May; 47(3):103-108. PubMed ID: 37143428
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
    Allanson J; Smith A; Hare H; Albrecht B; Bijlsma E; Dallapiccola B; Donti E; Fitzpatrick D; Isidor B; Lachlan K; Le Caignec C; Prontera P; Raas-Rothschild A; Rogaia D; van Bon B; Aradhya S; Crocker SF; Jarinova O; McGowan-Jordan J; Boycott K; Bulman D; Fagerberg CR
    Am J Med Genet A; 2012 Sep; 158A(9):2091-9. PubMed ID: 22821852
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
    Mitrakos A; Kekou K; Tilemis FN; Svingou M; Papadimas G; Sofocleous C; Traeger-Synodinos J; Tzetis M
    Am J Med Genet A; 2024 Dec; 194(12):e63826. PubMed ID: 39037278
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings.
    Mazziotti S; D'Angelo T; Ascenti G; Blandino A
    J Oral Maxillofac Surg; 2014 Aug; 72(8):1579-84. PubMed ID: 24815794
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nablus syndrome: Easy to diagnose yet difficult to solve.
    Allanson J; Smith A; Forzano F; Lin AE; Raas-Rothschild A; Howley HE; Boycott KM
    Am J Med Genet C Semin Med Genet; 2018 Dec; 178(4):447-457. PubMed ID: 30580486
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.
    Sachdev M; Rastogi A; Singh A; Kumar K; Kapoor S; Bansal Y; Goel S
    Ophthalmic Genet; 2013; 34(1-2):65-8. PubMed ID: 22697357
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
    Jain S; Yang P; Farrell SA
    Eur J Med Genet; 2010; 53(2):108-10. PubMed ID: 20074678
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of the ocular findings in the nablus masklike facial syndrome.
    Lance S; Wong G; Young D
    J AAPOS; 2016 Oct; 20(5):457-459. PubMed ID: 27647115
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.
    Raas-Rothschild A; Dijkhuizen T; Sikkema-Raddatz B; Werner M; Dagan J; Abeliovich D; Lerer I
    Eur J Med Genet; 2009; 52(2-3):140-4. PubMed ID: 19328248
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Chromosome 1p31.1 Deletion Syndrome: Limited Expression.
    Biswal S; Parida P; Dubbudu A; Sharawat IK; Panda PK
    Ann Indian Acad Neurol; 2021; 24(1):78-80. PubMed ID: 33911383
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.
    Õunap K; Pajusalu S; Zilina O; Reimand T; Žordania R
    Clin Case Rep; 2016 Aug; 4(8):824-30. PubMed ID: 27525095
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.
    Yuan H; Meng Z; Zhang L; Luo X; Liu L; Chen M; Li X; Zhao W; Liang L
    Mol Cytogenet; 2016; 9():2. PubMed ID: 26759605
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.
    Clayton-Smith J; Krajewska-Walasek M; Fryer A; Donnai D
    Clin Dysmorphol; 1994 Apr; 3(2):115-20. PubMed ID: 8055130
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
    Tuğ E; Ergün MA; Perçin EF
    Turk J Pediatr; 2018; 60(1):94-98. PubMed ID: 30102487
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.
    Seo GH; Kim JH; Cho JH; Kim GH; Seo EJ; Lee BH; Choi JH; Yoo HW
    Korean J Pediatr; 2016 Jan; 59(1):16-23. PubMed ID: 26893599
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance.
    Partington M; Anderson D
    Am J Med Genet; 1994 Jan; 49(2):247-50. PubMed ID: 7509568
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dental findings in Kabuki make-up syndrome: a case report.
    Rocha CT; Peixoto IT; Fernandes PM; Torres CP; de Queiroz AM
    Spec Care Dentist; 2008; 28(2):53-7. PubMed ID: 18402617
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.