Gleeson JG - Search Results

1

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mirzaa GM, et al. Among authors: gleeson jg. Hum Genet. 2014 Aug;133(8):1023-39. doi: 10.1007/s00439-014-1443-3. Epub 2014 Apr 20. Hum Genet. 2014. PMID: 24748105 Free PMC article.

2

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Among authors: gleeson jg. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958

3

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. Pilz DT, et al. Among authors: gleeson jg. Hum Mol Genet. 1998 Dec;7(13):2029-37. doi: 10.1093/hmg/7.13.2029. Hum Mol Genet. 1998. PMID: 9817918

4

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Gleeson JG, et al. Am J Hum Genet. 2000 Sep;67(3):574-81. doi: 10.1086/303043. Epub 2000 Jul 27. Am J Hum Genet. 2000. PMID: 10915612 Free PMC article.

5

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM Jr, Maria BL, Barkovich AJ, Dobyns WB. Gleeson JG, et al. Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117. doi: 10.1002/ajmg.a.20437. Am J Med Genet A. 2004. PMID: 14981712

6

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. Parisi MA, et al. Among authors: gleeson jg. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Am J Hum Genet. 2004. PMID: 15138899 Free PMC article.

7

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Zaki M, et al. Among authors: gleeson jg. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667. Am J Med Genet A. 2007. PMID: 17431900

8

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Among authors: gleeson jg. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.

9

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Radmanesh F, et al. Among authors: gleeson jg. Am J Hum Genet. 2013 Mar 7;92(3):468-74. doi: 10.1016/j.ajhg.2013.02.005. Am J Hum Genet. 2013. PMID: 23472759 Free PMC article.

10

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Paciorkowski AR, et al. Among authors: gleeson jg. Am J Med Genet A. 2013 Jul;161A(7):1523-30. doi: 10.1002/ajmg.a.35969. Epub 2013 May 23. Am J Med Genet A. 2013. PMID: 23704059 Free PMC article.

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