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 *

158 related articles for article (PubMed ID: 24259484)

  • 61. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
    Fryns JP; Strømme P; van den Berghe H
    Clin Genet; 1993 Sep; 44(3):149-51. PubMed ID: 8275574
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Cerebral white matter abnormalities in 6p25 deletion syndrome.
    van der Knaap MS; Kriek M; Overweg-Plandsoen WC; Hansson KB; Madan K; Starreveld JS; Schotman-Schram P; Barkhof F; Lesnik Oberstein SA
    AJNR Am J Neuroradiol; 2006 Mar; 27(3):586-8. PubMed ID: 16551997
    [TBL] [Abstract][Full Text] [Related]  

  • 63. [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]  

  • 64. Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.
    Williams PG; Hersh JH; Yen FF; Barch MJ; Kleinert HE; Kunz J; Kalff-Suske M
    Clin Genet; 1997 Dec; 52(6):436-41. PubMed ID: 9520255
    [TBL] [Abstract][Full Text] [Related]  

  • 65. A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome.
    Strenge S; Kujat A; Zelante L; Froster UG
    Am J Med Genet A; 2006 Dec; 140(24):2838-9. PubMed ID: 17103454
    [No Abstract]   [Full Text] [Related]  

  • 66. Bilateral optic disk swelling in the 4q34 deletion syndrome.
    Connell P; Brosnahan D; Dunlop A; Reardon W
    J AAPOS; 2007 Oct; 11(5):516-8. PubMed ID: 17933677
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
    Niida Y; Mitani Y; Kuroda M; Yokoi A; Nakagawa H; Kato A
    Congenit Anom (Kyoto); 2017 May; 57(3):86-88. PubMed ID: 27696664
    [TBL] [Abstract][Full Text] [Related]  

  • 68. 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]  

  • 69. Association of atrial-ventricular septal defect, blepharophimosis, anal and radial defects in sibs: a new syndrome?
    Houlston RS; Ironton R; Temple IK
    Genet Couns; 1994; 5(1):93-6. PubMed ID: 8031543
    [No Abstract]   [Full Text] [Related]  

  • 70. Vertical transmission of the Ohdo blepharophimosis syndrome.
    Mhanni AA; Dawson AJ; Chudley AE
    Am J Med Genet; 1998 May; 77(2):144-8. PubMed ID: 9605288
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.
    Senses DA; Silan F; Uzun H; Alagöz D; Zafer C; Kocabay K; Karaüzüm SB; Cetin Z
    Genet Couns; 2007; 18(2):163-70. PubMed ID: 17710868
    [TBL] [Abstract][Full Text] [Related]  

  • 72. 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]  

  • 73. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.
    Guion-Almeida ML; Richieri-Costa A; Jehee FS; Passos-Bueno MR; Zechi-Ceide RM
    Am J Med Genet A; 2012 Jul; 158A(7):1676-9. PubMed ID: 22628242
    [TBL] [Abstract][Full Text] [Related]  

  • 74. 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]  

  • 75. Joubert syndrome associated with patent ductus arteriosus in a newborn infant.
    Peker E; Kirimi E; Sal E; Ceylan A; Ustyol L; Caksen H
    Genet Couns; 2009; 20(3):289-92. PubMed ID: 19852437
    [No Abstract]   [Full Text] [Related]  

  • 76. 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; 161A(6):1447-52. PubMed ID: 23633410
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Pai syndrome: report of seven South American patients.
    Guion-Almeida ML; Mellado C; Beltrán C; Richieri-Costa A
    Am J Med Genet A; 2007 Dec; 143A(24):3273-9. PubMed ID: 17907143
    [TBL] [Abstract][Full Text] [Related]  

  • 78. [A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area].
    Santiago J; Muszlak M; Goulois E; Ranaivoarivony V; Hébert JC; Lacombe D; Verloes A
    Arch Pediatr; 2010 May; 17(5):588-93. PubMed ID: 20138485
    [TBL] [Abstract][Full Text] [Related]  

  • 79. KBG syndrome: 16q24.3 microdeletion in an Indian patient.
    Srivastava P; Gambhir PS; Phadke SR
    Clin Dysmorphol; 2017 Jul; 26(3):161-166. PubMed ID: 28099180
    [No Abstract]   [Full Text] [Related]  

  • 80. A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development.
    Accorsi P; Giordano L; Uliana V; Forzano F; Pinelli L; Olioso G; Zenker M; Di Maria E; Faravelli F
    Clin Dysmorphol; 2012 Apr; 21(2):74-76. PubMed ID: 22192933
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.