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 *

175 related articles for article (PubMed ID: 22002944)

  • 21. [Genetic diagnosis of a child with aortic stenosis and thumb aplasia].
    Wu D; Hou Q; Li T; Wang X; Huo X; Gao Y; Zhang M; Ding X; Yang Y; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):531-534. PubMed ID: 30098250
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
    Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
    Piccione M; Piro E; Serraino F; Cavani S; Ciccone R; Malacarne M; Pierluigi M; Vitaloni M; Zuffardi O; Corsello G
    Eur J Med Genet; 2012 Apr; 55(4):238-44. PubMed ID: 22406401
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
    Shimojima K; Okamoto N; Yamamoto T
    Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Narrowing the deleted region associated with the 15q21 syndrome.
    Pramparo T; Mattina T; Gimelli S; Liehr T; Zuffardi O
    Eur J Med Genet; 2005; 48(3):346-52. PubMed ID: 16179230
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.
    Ho BS; McCready E; Nowaczyk MJ
    Clin Dysmorphol; 2016 Jul; 25(3):128-32. PubMed ID: 27057655
    [No Abstract]   [Full Text] [Related]  

  • 27. Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.
    Shojaei A; Behjati F; Derakhshandeh-Peykar P; Razzaghy-Azar M; Otukesh H; Kariminejad R; Dowlati MA; Rashidi-Nezhad A; Tavakkoly-Bazzaz J
    Gene; 2013 Mar; 517(1):137-45. PubMed ID: 23201896
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
    Kuechler A; Buysse K; Clayton-Smith J; Le Caignec C; David A; Engels H; Kohlhase J; Mari F; Mortier G; Renieri A; Wieczorek D
    Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A case with de novo interstitial deletion of chromosome 7q21.1-q22.
    Manguoğlu E; Berker-Karaüzüm S; Baumer A; Mihçi E; Taçoy S; Lüleci G; Schinzel A
    Genet Couns; 2005; 16(2):155-9. PubMed ID: 16080295
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
    Gerundino F; Marseglia G; Pescucci C; Pelo E; Benelli M; Giachini C; Federighi B; Antonelli C; Torricelli F
    Eur J Med Genet; 2014; 57(11-12):649-53. PubMed ID: 25451714
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.
    Ko WT; Lam WF; Lo FM; Chan WK; Lam TS
    Am J Med Genet A; 2003 Jul; 120A(3):413-7. PubMed ID: 12838565
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A patient with five chromosomal rearrangements and a 2q31.1 microdeletion.
    Wang T; Mao J; Liu MJ; Choy KW; Li HB; Cram DS; Li H; Chen Y
    Clin Chim Acta; 2014 Mar; 430():129-33. PubMed ID: 24412318
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
    Pillai NR; Marafi D; Monteiro SA; Parnes M; Chandy BM; Patel A; Bacino CA; Breman AM; Burrage LC
    Eur J Med Genet; 2019 Jun; 62(6):103531. PubMed ID: 30142436
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Interstitial deletion of 3p22.2-p24.2: the first reported case.
    Liu HX; Oei PT; Mitchell EA; McGaughran JM
    J Med Genet; 2001 May; 38(5):349-51. PubMed ID: 11403048
    [No Abstract]   [Full Text] [Related]  

  • 35. Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.
    Milani D; Sabatini C; Manzoni FM; Ajmone PF; Rigamonti C; Malacarne M; Pierluigi M; Cavani S; Costantino MA
    Congenit Anom (Kyoto); 2015 May; 55(2):107-11. PubMed ID: 25174267
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
    Nakane T; Kousuke N; Sonoko H; Yuko K; Sato H; Kubota T; Sugita K
    Pediatr Int; 2013 Jun; 55(3):376-81. PubMed ID: 23782370
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Investigation of 4q-deletion in two unrelated patients using array CGH.
    Kaalund SS; Møller RS; Tészás A; Miranda M; Kosztolanyi G; Ullmann R; Tommerup N; Tümer Z
    Am J Med Genet A; 2008 Sep; 146A(18):2431-4. PubMed ID: 18688872
    [No Abstract]   [Full Text] [Related]  

  • 38. Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
    Jang W; Kim Y; Han E; Park J; Chae H; Kwon A; Choi H; Kim J; Son JO; Lee SJ; Hong BY; Jang DH; Han JY; Lee JH; Kim SY; Lee IG; Sung IK; Moon Y; Kim M; Park JH
    Ann Lab Med; 2019 May; 39(3):299-310. PubMed ID: 30623622
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.
    Macedoni-Lukšič M; Krgović D; Zagradišnik B; Kokalj-Vokač N
    Gene; 2013 Jul; 524(2):386-9. PubMed ID: 23612248
    [No Abstract]   [Full Text] [Related]  

  • 40. [Identifying rare genomic disorders with array comparative genomic hybridization in Hungary].
    Duga B; Czakó M; Hadzsiev K; Komlósi K; Sümegi K; Kisfali P; Kosztolányi G; Melegh B
    Orv Hetil; 2014 Mar; 155(9):358-61. PubMed ID: 24566700
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.