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Items: 1 to 20 of 98

1.

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.

Am J Med Genet A. 2007 May 1;143A(9):939-44.

PMID:
17431900
2.

The role of RELN in lissencephaly and neuropsychiatric disease.

Chang BS, Duzcan F, Kim S, Cinbis M, Aggarwal A, Apse KA, Ozdel O, Atmaca M, Zencir S, Bagci H, Walsh CA.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63.

PMID:
16958033
3.

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

Valence S, Garel C, Barth M, Toutain A, Paris C, Amsallem D, Barthez MA, Mayer M, Rodriguez D, Burglen L.

Clin Genet. 2016 Dec;90(6):545-549. doi: 10.1111/cge.12779. Epub 2016 Apr 29.

PMID:
27000652
4.

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA.

Nat Genet. 2000 Sep;26(1):93-6. Erratum in: Nat Genet 2001 Feb;27(2):225.

PMID:
10973257
5.

Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.

Suárez-Vega A, Gutiérrez-Gil B, Cuchillo-Ibáñez I, Sáez-Valero J, Pérez V, García-Gámez E, Benavides J, Arranz JJ.

PLoS One. 2013 Nov 19;8(11):e81072. doi: 10.1371/journal.pone.0081072. eCollection 2013.

6.

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C.

Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020.

7.

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

Vu PY, Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, Taine L.

Am J Med Genet A. 2012 Nov;158A(11):2849-56. doi: 10.1002/ajmg.a.35694. Epub 2012 Oct 3.

PMID:
23034868
8.

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.

Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, Striano S, Striano P, Coppola G, La Neve A, Giallonardo AT, Mecarelli O, Serioli E, Dazzo E, Fanciulli M, Nobile C.

Epilepsy Behav. 2017 Mar;68:103-107. doi: 10.1016/j.yebeh.2016.12.003. Epub 2017 Jan 28.

9.

Guiding neurons to the cortex.

Barinaga M.

Science. 1996 Nov 15;274(5290):1100-1. No abstract available.

PMID:
8966585
10.

Rat neurological disease creeping is caused by a mutation in the reelin gene.

Yokoi N, Namae M, Wang HY, Kojima K, Fuse M, Yasuda K, Serikawa T, Seino S, Komeda K.

Brain Res Mol Brain Res. 2003 Apr 10;112(1-2):1-7.

PMID:
12670697
11.

An association analysis of reelin gene (RELN) polymorphisms with childhood epilepsy in eastern Indian population from West Bengal.

Dutta S, Gangopadhyay PK, Sinha S, Chatterjee A, Ghosh S, Rajamma U.

Cell Mol Neurobiol. 2011 Jan;31(1):45-56. doi: 10.1007/s10571-010-9551-7. Epub 2010 Aug 10.

PMID:
20697953
12.

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S.

Am J Med Genet A. 2006 Apr 1;140(7):769-74.

PMID:
16523519
13.

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia.

Zhou Z, Hu Z, Zhang L, Hu Z, Liu H, Liu Z, Du J, Zhao J, Zhou L, Xia K, Tang B, Shen L.

Sci Rep. 2016 Apr 13;6:24327. doi: 10.1038/srep24327.

14.

Histological study in the brain of the reelin/Dab1-compound mutant mouse.

Yamamoto T, Setsu T, Okuyama-Yamamoto A, Terashima T.

Anat Sci Int. 2009 Sep;84(3):200-9. doi: 10.1007/s12565-008-0009-7. Epub 2009 Feb 17.

PMID:
19221860
15.

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H.

Gene. 2014 Mar 15;538(1):30-5. doi: 10.1016/j.gene.2014.01.027. Epub 2014 Jan 16.

PMID:
24440292
16.

Analysis of the RELN gene as a genetic risk factor for autism.

Skaar DA, Shao Y, Haines JL, Stenger JE, Jaworski J, Martin ER, DeLong GR, Moore JH, McCauley JL, Sutcliffe JS, Ashley-Koch AE, Cuccaro ML, Folstein SE, Gilbert JR, Pericak-Vance MA.

Mol Psychiatry. 2005 Jun;10(6):563-71.

PMID:
15558079
17.

Association study of the reelin (RELN) gene with Chinese Va schizophrenia.

Yang XB, Kang C, Liu H, Yang J.

Psychiatr Genet. 2013 Jun;23(3):138. doi: 10.1097/YPG.0b013e32835d705c. No abstract available.

PMID:
23277132
18.

RELN rare variants in myoclonus-dystonia.

Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA.

Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4.

PMID:
25648840
19.

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.

Ashley-Koch AE, Jaworski J, Ma DQ, Mei H, Ritchie MD, Skaar DA, Robert Delong G, Worley G, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA.

Psychiatr Genet. 2007 Aug;17(4):221-6.

PMID:
17621165
20.

The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.

Li H, Li Y, Shao J, Li R, Qin Y, Xie C, Zhao Z.

Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5;147B(2):194-200.

PMID:
17955477

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