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Journal Abstract Search

589 related items for PubMed ID: 25230004

  • 21. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
    Wu D, Wang H, Zhang H, Hou Q, Qin L, Wang T, Xiao H, Liao S, Wang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057
    [Abstract] [Full Text] [Related]

  • 22. Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.
    Travan L, Naviglio S, De Cunto A, Pellegrin A, Pecile V, Spinelli AM, Cappellani S, Faletra F.
    Am J Med Genet A; 2017 Jul; 173(7):1970-1974. PubMed ID: 28411391
    [Abstract] [Full Text] [Related]

  • 23. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.
    Gene; 2013 Mar 01; 516(1):158-61. PubMed ID: 23266801
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  • 27. 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 01; 155A(8):1857-64. PubMed ID: 21739578
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  • 28. A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.
    Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.
    Eur J Med Genet; 2012 Oct 01; 55(10):564-7. PubMed ID: 22750323
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  • 29. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
    Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.
    Eur J Med Genet; 2012 Apr 01; 55(4):274-7. PubMed ID: 22450339
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  • 30. Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
    Au PYB, Huang L, Broley S, Gallagher L, Creede E, Lahey D, Ordorica S, Mina K, Boycott KM, Baynam G, Dyment DA.
    Eur J Med Genet; 2017 Jul 01; 60(7):359-364. PubMed ID: 28377321
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  • 31. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.
    J Med Genet; 2010 Jun 01; 47(6):377-84. PubMed ID: 20522426
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  • 32. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.
    BMC Med Genet; 2015 Aug 22; 16():68. PubMed ID: 26293599
    [Abstract] [Full Text] [Related]

  • 33. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.
    Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y.
    Gene; 2013 Mar 10; 516(2):301-6. PubMed ID: 23296059
    [Abstract] [Full Text] [Related]

  • 34. 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 Mar 10; 57(11-12):649-53. PubMed ID: 25451714
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  • 35. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
    Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.
    Eur J Med Genet; 2012 Jun 10; 55(6-7):437-40. PubMed ID: 22534424
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  • 36. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.
    Eur J Paediatr Neurol; 2013 Nov 10; 17(6):589-99. PubMed ID: 23711909
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  • 37. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
    Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D.
    Eur J Med Genet; 2014 Sep 10; 57(9):513-9. PubMed ID: 24911659
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  • 38. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
    de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG.
    Eur J Hum Genet; 2014 Jun 10; 22(6):844-6. PubMed ID: 24193349
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  • 39. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
    la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z.
    Am J Med Genet A; 2013 Jun 10; 161A(6):1447-52. PubMed ID: 23633410
    [Abstract] [Full Text] [Related]

  • 40. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
    Aleksiūnienė B, Preiksaitiene E, Morkūnienė A, Ambrozaitytė L, Utkus A.
    Cytogenet Genome Res; 2018 Jun 10; 154(1):6-11. PubMed ID: 29421787
    [Abstract] [Full Text] [Related]

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