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Journal Abstract Search

157 related items for PubMed ID: 16906570

  • 1. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.
    Kannu P, Oei P, Slater HR, Khammy O, Aftimos S.
    Am J Med Genet A; 2006 Sep 15; 140(18):1955-9. PubMed ID: 16906570
    [Abstract] [Full Text] [Related]

  • 2. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
    Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC.
    Am J Med Genet A; 2005 Feb 01; 132A(4):381-5. PubMed ID: 15654696
    [Abstract] [Full Text] [Related]

  • 3. The 6p25 deletion syndrome: An update on a rare neurocristopathy.
    de Vos IJ, Stegmann AP, Webers CA, Stumpel CT.
    Ophthalmic Genet; 2017 Feb 01; 38(2):101-107. PubMed ID: 27070436
    [Abstract] [Full Text] [Related]

  • 4. Dysmyelination of the cerebral white matter with microdeletion at 6p25.
    Kapoor S, Mukherjee SB, Shroff D, Arora R.
    Indian Pediatr; 2011 Sep 01; 48(9):727-9. PubMed ID: 21992905
    [Abstract] [Full Text] [Related]

  • 5. Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?
    Antich J, Iriondo M, Lizarraga I, Manzanares R, Cusi V.
    Genet Couns; 1993 Sep 01; 4(3):207-11. PubMed ID: 8267929
    [Abstract] [Full Text] [Related]

  • 6. Schizophrenia in an adult with 6p25 deletion syndrome.
    Caluseriu O, Mirza G, Ragoussis J, Chow EW, MacCrimmon D, Bassett AS.
    Am J Med Genet A; 2006 Jun 01; 140(11):1208-13. PubMed ID: 16642507
    [Abstract] [Full Text] [Related]

  • 7. Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous.
    Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H.
    Am J Med Genet A; 2006 Mar 01; 140(5):503-8. PubMed ID: 16470791
    [Abstract] [Full Text] [Related]

  • 8. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.
    Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.
    Am J Med Genet A; 2011 Dec 01; 155A(12):2925-32. PubMed ID: 22009788
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
    Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA.
    BMC Med Genet; 2004 Jun 25; 5():17. PubMed ID: 15219231
    [Abstract] [Full Text] [Related]

  • 10. Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.
    Damar Ç, Boyunağa Ö, Derinkuyu BE, Battaloğlu N, Ezgü FS.
    Skeletal Radiol; 2014 Nov 25; 43(11):1651-4. PubMed ID: 25037730
    [Abstract] [Full Text] [Related]

  • 11. 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 25; 58(1):93-98. PubMed ID: 27629806
    [Abstract] [Full Text] [Related]

  • 12. [Dysplasia spondylometa-epiphysaria congenita and dysplasia spondyloepiphysaria congenita with brachymetacarpia and -tarsia. Contribution to the differential diagnosis of dysplasia spondyloepiphysaria congenita].
    Kozlowski K, Filipiak-Miastkowska I, Narebska E, Nowicki S, Chylinska H.
    Fortschr Geb Rontgenstr Nuklearmed; 1971 Jun 25; 114(6):824-32. PubMed ID: 4996359
    [No Abstract] [Full Text] [Related]

  • 13. Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
    Corona-Rivera JR, Corona-Rivera A, Zepeda-Romero LC, Rios-Flores IM, Rivera-Vargas J, Orozco-Vela M, Santana-Bejarano UF, Torres-Anguiano E, Pinto-Cardoso M, David D, Bobadilla-Morales L.
    Congenit Anom (Kyoto); 2019 Sep 25; 59(5):174-178. PubMed ID: 30225942
    [Abstract] [Full Text] [Related]

  • 14. KBG syndrome: 16q24.3 microdeletion in an Indian patient.
    Srivastava P, Gambhir PS, Phadke SR.
    Clin Dysmorphol; 2017 Jul 25; 26(3):161-166. PubMed ID: 28099180
    [No Abstract] [Full Text] [Related]

  • 15. Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.
    Titheradge H, Togneri F, McMullan D, Brueton L, Lim D, Williams D.
    Am J Med Genet A; 2014 Jul 25; 164A(7):1695-701. PubMed ID: 24715413
    [Abstract] [Full Text] [Related]

  • 16. Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.
    Lowry RB, Wood BJ.
    Clin Genet; 1975 Oct 25; 8(4):269-74. PubMed ID: 1183069
    [Abstract] [Full Text] [Related]

  • 17. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures.
    Mennel EA, John SD.
    Pediatr Radiol; 2003 Jan 25; 33(1):11-4. PubMed ID: 12497229
    [Abstract] [Full Text] [Related]

  • 18. 6p25 microdeletion: white matter abnormalities in an adult patient.
    Vernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R.
    Am J Med Genet A; 2013 Jul 25; 161A(7):1686-9. PubMed ID: 23686687
    [Abstract] [Full Text] [Related]

  • 19. Patterson-Lowry rhizomelic dysplasia: report of two new patients.
    Franceschini P, Licata D, Guala A, Ingrosso G, Di Cara G, Franceschini D.
    Am J Med Genet A; 2004 May 15; 127A(1):86-92. PubMed ID: 15103724
    [Abstract] [Full Text] [Related]

  • 20. Dysplasia epiphysealis multiplex.
    Mansoor IA.
    Clin Orthop Relat Res; 1970 May 15; 72():287-92. PubMed ID: 5459799
    [No Abstract] [Full Text] [Related]

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