BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 26754677)

  • 1. Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
    Ronzoni L; Tagliaferri F; Tucci A; Baccarin M; Esposito S; Milani D
    Am J Med Genet A; 2016 May; 170A(5):1257-61. PubMed ID: 26754677
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
    Michelson M; Ben-Sasson A; Vinkler C; Leshinsky-Silver E; Netzer I; Frumkin A; Kivity S; Lerman-Sagie T; Lev D
    Am J Med Genet A; 2012 Jun; 158A(6):1395-9. PubMed ID: 22585544
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.
    Paulraj P; Palumbos JC; Openshaw A; Carey JC; Toydemir RM
    Cytogenet Genome Res; 2018; 156(4):191-196. PubMed ID: 30439704
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
    Nagamani SC; Erez A; Eng C; Ou Z; Chinault C; Workman L; Coldwell J; Stankiewicz P; Patel A; Lupski JR; Cheung SW
    Eur J Hum Genet; 2009 May; 17(5):573-81. PubMed ID: 19034313
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.
    Lu G; Peng Q; Wu L; Zhang J; Ma L
    BMC Med Genomics; 2021 Nov; 14(1):270. PubMed ID: 34775996
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 6q25.1-q25.3 Microdeletion in a Chinese Girl.
    Zhong ML; Song YM; Zou CC
    J Clin Res Pediatr Endocrinol; 2021 Feb; 13(1):109-113. PubMed ID: 32380822
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.
    Pascolini G; Valiante M; Bottillo I; Laino L; Fleischer N; Ferraris A; Grammatico P
    Eur J Med Genet; 2020 Mar; 63(3):103739. PubMed ID: 31421289
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
    Halgren C; Kjaergaard S; Bak M; Hansen C; El-Schich Z; Anderson CM; Henriksen KF; Hjalgrim H; Kirchhoff M; Bijlsma EK; Nielsen M; den Hollander NS; Ruivenkamp CA; Isidor B; Le Caignec C; Zannolli R; Mucciolo M; Renieri A; Mari F; Anderlid BM; Andrieux J; Dieux A; Tommerup N; Bache I
    Clin Genet; 2012 Sep; 82(3):248-55. PubMed ID: 21801163
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.
    Malli T; Duba HC; Erdel M; Marschon R; Kranewitter W; Deutschbauer S; Kralik J; Diel E; Güenther B; Mueller D; Webersinke G
    Am J Med Genet A; 2014 Dec; 164A(12):3126-31. PubMed ID: 25250687
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
    Ehmke N; Karge S; Buchmann J; Korinth D; Horn D; Reis O; Häßler F
    Am J Med Genet A; 2017 May; 173(5):1251-1256. PubMed ID: 28345786
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V; Erger F; Herkenrath P; Seland S; Jackels M; Wiater A; Heller R; Beck BB; Netzer C
    Am J Med Genet A; 2017 Aug; 173(8):2132-2138. PubMed ID: 28574232
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature.
    Vignoli A; Scornavacca GF; Peron A; La Briola F; Canevini MP
    Am J Med Genet A; 2013 Aug; 161A(8):2009-15. PubMed ID: 23794236
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.
    Shukla A; Hebbar M; Harms FL; Kadavigere R; Girisha KM; Kutsche K
    Am J Med Genet A; 2016 Nov; 170(11):2998-3003. PubMed ID: 27191798
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.
    Peter B; Lancaster H; Vose C; Fares A; Schrauwen I; Huentelman M
    Am J Med Genet A; 2017 Oct; 173(10):2659-2669. PubMed ID: 28767196
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z; Jeng LJ; Slavotinek A; Yu J
    BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
    Ballif BC; Rosenfeld JA; Traylor R; Theisen A; Bader PI; Ladda RL; Sell SL; Steinraths M; Surti U; McGuire M; Williams S; Farrell SA; Filiano J; Schnur RE; Coffey LB; Tervo RC; Stroud T; Marble M; Netzloff M; Hanson K; Aylsworth AS; Bamforth JS; Babu D; Niyazov DM; Ravnan JB; Schultz RA; Lamb AN; Torchia BS; Bejjani BA; Shaffer LG
    Hum Genet; 2012 Jan; 131(1):145-56. PubMed ID: 21800092
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
    Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
    Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
    Becker K; Di Donato N; Holder-Espinasse M; Andrieux J; Cuisset JM; Vallée L; Plessis G; Jean N; Delobel B; Thuresson AC; Annerén G; Ravn K; Tümer Z; Tinschert S; Schrock E; Jønch AE; Hackmann K
    Eur J Med Genet; 2012; 55(8-9):490-7. PubMed ID: 22561202
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
    Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
    Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.