Gleeson JG - Search Results

1

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Am J Hum Genet. 2018 Aug 2;103(2):296-304. doi: 10.1016/j.ajhg.2018.06.011. Epub 2018 Jul 19. Am J Hum Genet. 2018. PMID: 30032983 Free PMC article.

2

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.

3

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. Keeler LC, et al. Among authors: gleeson jg. Am J Hum Genet. 2003 Sep;73(3):656-62. doi: 10.1086/378206. Epub 2003 Aug 13. Am J Hum Genet. 2003. PMID: 12917796 Free PMC article.

4

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. Dixon-Salazar T, et al. Among authors: gleeson jg. Am J Hum Genet. 2004 Dec;75(6):979-87. doi: 10.1086/425985. Epub 2004 Oct 4. Am J Hum Genet. 2004. PMID: 15467982 Free PMC article.

5

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

6

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. Zaki MS, et al. Among authors: gleeson jg. Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. Neurology. 2008. PMID: 18268248

7

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Among authors: gleeson jg. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

8

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. Zaki MS, et al. Among authors: gleeson jg. Am J Med Genet A. 2009 Aug;149A(8):1789-94. doi: 10.1002/ajmg.a.32983. Am J Med Genet A. 2009. PMID: 19610102 Free PMC article.

9

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.

Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Boglárka B, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG. Hanna RM, et al. Among authors: gleeson jg. Neurology. 2011 Jan 25;76(4):373-82. doi: 10.1212/WNL.0b013e318208f492. Neurology. 2011. PMID: 21263138 Free PMC article.

10

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Zaki MS, et al. Among authors: gleeson jg. Brain. 2012 Aug;135(Pt 8):2416-27. doi: 10.1093/brain/aws162. Epub 2012 Jul 20. Brain. 2012. PMID: 22822038 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

333 results

Search Page

Filters