BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 29957742)

  • 1. A case of Nablus mask-like facial syndrome with autism spectrum disorders.
    Akaltun İ; Kara T
    Psychiatr Genet; 2018 Aug; 28(4):75. PubMed ID: 29957742
    [No Abstract]   [Full Text] [Related]  

  • 2. Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
    Overhoff J; Rabideau MM; Bird LM; Schweitzer DN; Haynes K; Schultz RA; Shaffer LG; Rosenfeld JA; Ellison JW
    Am J Med Genet A; 2014 Jan; 164A(1):259-63. PubMed ID: 24259484
    [No Abstract]   [Full Text] [Related]  

  • 3. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
    Debost-Legrand A; Eymard-Pierre E; Pebrel-Richard C; Gouas L; Goumy C; Giollant M; Ayed W; Tchirkov A; Francannet C; Vago P
    Am J Med Genet A; 2013 Jan; 161A(1):162-5. PubMed ID: 23239647
    [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. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
    Jamuar SS; Duzkale H; Duzkale N; Zhang C; High FA; Kaban L; Bhattacharya S; Crandall B; Kantarci S; Stoler JM; Lin AE
    Am J Med Genet A; 2015 Jun; 167(6):1400-5. PubMed ID: 25846266
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. [Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].
    Briegel W; Cohen M
    Z Kinder Jugendpsychiatr Psychother; 2004 May; 32(2):107-15. PubMed ID: 15181786
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
    de Carvalho DR; Rossi NF; Schellini S; Moretti-Ferreira D; Richieri-Costa A
    Am J Med Genet A; 2008 Aug; 146A(16):2134-7. PubMed ID: 18627062
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
    Papolos DF; Faedda GL; Veit S; Goldberg R; Morrow B; Kucherlapati R; Shprintzen RJ
    Am J Psychiatry; 1996 Dec; 153(12):1541-7. PubMed ID: 8942449
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Velo-cardio-facial syndrome: a distinctive behavioral phenotype.
    Shprintzen RJ
    Ment Retard Dev Disabil Res Rev; 2000; 6(2):142-7. PubMed ID: 10899808
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.
    Güneş S; Ekinci Ö; Ekinci N; Toros F
    J Autism Dev Disord; 2017 Feb; 47(2):520-521. PubMed ID: 27878741
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Children with 4q-syndrome: the parents' perspective.
    Strehle EM; Middlemiss PM
    Genet Couns; 2007; 18(2):189-99. PubMed ID: 17710871
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
    Wulfsberg EA
    Am J Med Genet; 1996 Aug; 64(3):523-4. PubMed ID: 8862634
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.
    Saraiva JM; Matoso E; Marques I
    J Med Genet; 1998 Apr; 35(4):347-8. PubMed ID: 9598739
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
    Yatsenko SA; Cheung SW; Scott DA; Nowaczyk MJ; Tarnopolsky M; Naidu S; Bibat G; Patel A; Leroy JG; Scaglia F; Stankiewicz P; Lupski JR
    J Med Genet; 2005 Apr; 42(4):328-35. PubMed ID: 15805160
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 5.