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Items: 1 to 20 of 81

1.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U.

Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7.

2.

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.

Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S.

Eur J Hum Genet. 2008 Sep;16(9):1070-4. doi: 10.1038/ejhg.2008.73. Epub 2008 Mar 26.

3.

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW.

Eur J Hum Genet. 2008 Feb;16(2):270-3. Epub 2007 Nov 28.

4.

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L.

BMC Med Genet. 2012 Sep 14;13:80. doi: 10.1186/1471-2350-13-80.

5.

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T.

Genome Res. 2011 Dec;21(12):1995-2003. doi: 10.1101/gr.126110.111. Epub 2011 Sep 1.

6.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M.

Neurogenetics. 2010 Jul;11(3):319-25. doi: 10.1007/s10048-009-0232-y. Epub 2010 Jan 15.

PMID:
20082205
7.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS.

Am J Hum Genet. 2005 Sep;77(3):477-83. Epub 2005 Jul 22.

8.

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105. No abstract available.

9.

"Unertan syndrome" in two Turkish families in relation to devolution and emergence of Homo erectus: neurological examination, MRI, and PET scans.

Tan U, Pençe S, Yilmaz M, Ozkur A, Karaca S, Tan M, Karataş M.

Int J Neurosci. 2008 Mar;118(3):313-36. doi: 10.1080/00207450701667766.

PMID:
18300005
10.

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.

Türkmen S, Demirhan O, Hoffmann K, Diers A, Zimmer C, Sperling K, Mundlos S.

J Med Genet. 2006 May;43(5):461-4. Epub 2005 Dec 21.

11.

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
12.

The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.

Sonmez FM, Gleeson JG, Celep F, Kul S.

J Child Neurol. 2013 Mar;28(3):379-83. doi: 10.1177/0883073812441065. Epub 2012 Apr 24.

13.

Unertan syndrome: review and report of four new cases.

Tan U.

Int J Neurosci. 2008 Feb;118(2):211-25. doi: 10.1080/00207450701667808. Review.

PMID:
18205078
14.

A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).

Gerber M, Fischer A, Jagannathan V, Drögemüller M, Drögemüller C, Schmidt MJ, Bernardino F, Manz E, Matiasek K, Rentmeister K, Leeb T.

PLoS One. 2015 Feb 10;10(2):e0108917. doi: 10.1371/journal.pone.0108917. eCollection 2015.

15.

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).

Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS.

J Child Neurol. 2009 Oct;24(10):1310-5. doi: 10.1177/0883073809332696. Epub 2009 Mar 30.

16.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T.

Eur J Hum Genet. 2013 Mar;21(3):281-5. doi: 10.1038/ejhg.2012.170. Epub 2012 Aug 15.

17.

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN.

PLoS Genet. 2009 May;5(5):e1000487. doi: 10.1371/journal.pgen.1000487. Epub 2009 May 22.

18.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.

Eur J Hum Genet. 2010 Apr;18(4):407-13. doi: 10.1038/ejhg.2009.190. Epub 2009 Nov 4.

20.

Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons.

Hack I, Hellwig S, Junghans D, Brunne B, Bock HH, Zhao S, Frotscher M.

Development. 2007 Nov;134(21):3883-91. Epub 2007 Oct 3.

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