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 *

242 related articles for article (PubMed ID: 29061174)

  • 21. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
    Pavone P; Ruggieri M; Lombardo I; Sudi J; Biancheri R; Castellano-Chiodo D; Rossi A; Incorpora G; Nowak NJ; Christian SL; Pavone L; Dobyns WB
    Eur J Pediatr; 2010 Apr; 169(4):475-81. PubMed ID: 19838731
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Neurological expression of an inherited translocation of chromosomal 1 and 7.
    AlMajhad NA; AlHashem AM; Bouhjar IA; Tabarki BM
    Neurosciences (Riyadh); 2017 Jan; 22(1):62-64. PubMed ID: 28064333
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
    Pelgrims E; Lynch SA; Hannes L; Hoffer MJV; Melotte C; Van Haeringen A; Swillen A; Breckpot J
    Am J Med Genet A; 2023 Jul; 191(7):1889-1899. PubMed ID: 37129290
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
    Shieh JT; Hudgins L; Cherry AM; Shen Z; Hoyme HE
    Am J Med Genet A; 2006 Jan; 140(2):170-3. PubMed ID: 16353235
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A Very Rare Partial Trisomy Syndrome:
    Türkyılmaz A; Yaralı O
    Balkan J Med Genet; 2020 Jun; 23(1):103-108. PubMed ID: 32953418
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness.
    Mahjoubi F; Nasiri F; Razazian F
    Genet Couns; 2012; 23(3):397-404. PubMed ID: 23072189
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.
    Fan LL; Sheng Y; Wang CY; Li YL; Liu JS
    Front Genet; 2021; 12():761003. PubMed ID: 34925452
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
    Shimojima K; Ondo Y; Matsufuji M; Sano N; Tsuru H; Oyoshi T; Higa N; Tokimura H; Arita K; Yamamoto T
    Eur J Med Genet; 2016 Nov; 59(11):559-563. PubMed ID: 27751966
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A familial 7q36.3 duplication associated with agenesis of the corpus callosum.
    Wong K; Moldrich R; Hunter M; Edwards M; Finlay D; O'Donnell S; MacDougall T; Bain N; Kamien B
    Am J Med Genet A; 2015 Sep; 167A(9):2201-8. PubMed ID: 25944787
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.
    Ounap K; Ilus T; Laidre P; Uibo O; Tammur P; Bartsch O
    Am J Med Genet A; 2005 Sep; 137A(3):323-7. PubMed ID: 16094674
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Strong variable clinical presentation in 3 patients with 7q terminal deletion.
    Frints SG; Schrander-Stumpel CT; Schoenmakers EF; Engelen JJ; Reekers AB; Van den Neucker AM; Smeets E; Devlieger H; Fryns JP
    Genet Couns; 1998; 9(1):5-14. PubMed ID: 9555580
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW; Schaaf CP; Fang P; Roeder E; Kimonis VE; Church JA; Patel A; Cheung SW
    BMC Med Genet; 2015 Mar; 16():12. PubMed ID: 25927380
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
    Karavitakis E; Kitsiou-Tzeli S; Xaidara A; Kosma K; Makrythanasis P; Apazidou E; Kanavakis E; Tzetis M
    Am J Med Genet A; 2014 Mar; 164A(3):666-70. PubMed ID: 24375959
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.
    Chui JV; Weisfeld-Adams JD; Tepperberg J; Mehta L
    Am J Med Genet A; 2011 Oct; 155A(10):2508-11. PubMed ID: 21998864
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.
    Zenger-Hain JL; Roberson J; Van Dyke DL; Weiss L
    Am J Med Genet; 1993 Jun; 46(4):438-40. PubMed ID: 7689299
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
    Rosenfeld JA; Drautz JM; Clericuzio CL; Cushing T; Raskin S; Martin J; Tervo RC; Pitarque JA; Nowak DM; Karolak JA; Lamb AN; Schultz RA; Ballif BC; Bejjani BA; Gajecka M; Shaffer LG
    Am J Med Genet A; 2011 Aug; 155A(8):1906-16. PubMed ID: 21744490
    [TBL] [Abstract][Full Text] [Related]  

  • 38. De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.
    Curotti G; Benkhalifa M; Raybaud C; Picard F; Bellec V; Qumsiyeh MB
    Genet Couns; 1999; 10(3):259-64. PubMed ID: 10546097
    [TBL] [Abstract][Full Text] [Related]  

  • 39. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
    Møller RS; Jensen LR; Maas SM; Filmus J; Capurro M; Hansen C; Marcelis CL; Ravn K; Andrieux J; Mathieu M; Kirchhoff M; Rødningen OK; de Leeuw N; Yntema HG; Froyen G; Vandewalle J; Ballon K; Klopocki E; Joss S; Tolmie J; Knegt AC; Lund AM; Hjalgrim H; Kuss AW; Tommerup N; Ullmann R; de Brouwer AP; Strømme P; Kjaergaard S; Tümer Z; Kleefstra T
    Hum Genet; 2014 May; 133(5):625-38. PubMed ID: 24326587
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.
    Silipigni R; Cattaneo E; Baccarin M; Fumagalli M; Bedeschi MF
    Eur J Med Genet; 2016 Jan; 59(1):39-42. PubMed ID: 26700408
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.