PMC Links for OMIM (Select 610185) - PMC

Select item 32270901.

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

Suleyman Gulsuner, Ayse Begum Tekinay, Katja Doerschner, Huseyin Boyaci, Kaya Bilguvar, Hilal Unal, Aslihan Ors, O. Emre Onat, Ergin Atalar, A. Nazli Basak, Haluk Topaloglu, Tulay Kansu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik

Genome Res. 2011 Dec; 21(12): 1995–2003. doi: 10.1101/gr.126110.111

PMCID:: PMC3227090

Abstract Article PDF–651K

Select item 26563532.

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

Tayfun Ozcelik, Nurten Akarsu, Elif Uz, Safak Caglayan, Suleyman Gulsuner, Onur Emre Onat, Meliha Tan, Uner Tan

Proc Natl Acad Sci U S A. 2008 Jun 10; 105(23): E32–E33. doi: 10.1073/pnas.0804078105

PMCID:: PMC2656353

Article PDF–104K

Select item 25645223.

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

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

J Med Genet. 2006 May; 43(5): 461–464. Published online 2005 Dec 21. doi: 10.1136/jmg.2005.040030

PMCID:: PMC2564522

Abstract Article PDF–243K

Select item 23967094.

Genes and quadrupedal locomotion in humans

Nicholas Humphrey, Stefan Mundlos, Seval Türkmen

Proc Natl Acad Sci U S A. 2008 May 27; 105(21): E26. Published online 2008 May 15. doi: 10.1073/pnas.0802839105

PMCID:: PMC2396709

Article PDF–66K

Select item 23966735.

“Devolution” of bipedality

Joachim Herz, Kym M. Boycott, Jillian S. Parboosingh

Proc Natl Acad Sci U S A. 2008 May 27; 105(21): E25. Published online 2008 May 16. doi: 10.1073/pnas.0802584105

PMCID:: PMC2396673

Article PDF–66K

Select item 23937566.

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

Tayfun Ozcelik, Nurten Akarsu, Elif Uz, Safak Caglayan, Suleyman Gulsuner, Onur Emre Onat, Meliha Tan, Uner Tan

Proc Natl Acad Sci U S A. 2008 Mar 18; 105(11): 4232–4236. Published online 2008 Mar 7. doi: 10.1073/pnas.0710010105

PMCID:: PMC2393756

Abstract Article PDF–923K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity