Literature DB >> 18544652

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.   

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Year:  2008        PMID： 18544652      PMCID： PMC2656353          DOI： 10.1073/pnas.0804078105

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  9 in total

1.  Genes and quadrupedal locomotion in humans.

Authors:  Nicholas Humphrey; Stefan Mundlos; Seval Türkmen
Journal:  Proc Natl Acad Sci U S A       Date:  2008-05-15       Impact factor: 11.205

2.  "Devolution" of bipedality.

Authors:  Joachim Herz; Kym M Boycott; Jillian S Parboosingh
Journal:  Proc Natl Acad Sci U S A       Date:  2008-05-16       Impact factor: 11.205

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

Authors:  Kym M Boycott; Shauna Flavelle; Alexandre Bureau; Hannah C Glass; T Mary Fujiwara; Elaine Wirrell; Krista Davey; Albert E Chudley; James N Scott; D Ross McLeod; Jillian S Parboosingh
Journal:  Am J Hum Genet       Date:  2005-07-22       Impact factor: 11.025

4.  The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.

Authors:  B Hagberg; G Sanner; M Steen
Journal:  Acta Paediatr Scand Suppl       Date:  1972

5.  Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.

Authors:  V Schurig; A V Orman; P Bowen
Journal:  Am J Med Genet       Date:  1981

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

Authors:  S Türkmen; K Hoffmann; Osman Demirhan; Defne Aruoba; N Humphrey; S Mundlos
Journal:  Eur J Hum Genet       Date:  2008-03-26       Impact factor: 4.246

7.  A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.

Authors:  Gilberto De Lima Garcias; Maria Da Graça Martino Roth
Journal:  Int J Neurosci       Date:  2007-07       Impact factor: 2.292

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

Authors:  Lia Abbasi Moheb; Andreas Tzschach; Masoud Garshasbi; Kimia Kahrizi; Hossein Darvish; Yaser Heshmati; Alireza Kordi; Hossein Najmabadi; Hans Hilger Ropers; Andreas Walter Kuss
Journal:  Eur J Hum Genet       Date:  2007-11-28       Impact factor: 4.246

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

Authors:  Tayfun Ozcelik; Nurten Akarsu; Elif Uz; Safak Caglayan; Suleyman Gulsuner; Onur Emre Onat; Meliha Tan; Uner Tan
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-07       Impact factor: 11.205
  9 in total
  6 in total

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

Authors:  Luis E Kolb; Zulfikar Arlier; Cengiz Yalcinkaya; Ali K Ozturk; Jennifer A Moliterno; Ozdem Erturk; Fatih Bayrakli; Baris Korkmaz; Michael L DiLuna; Katsuhito Yasuno; Kaya Bilguvar; Tayfun Ozcelik; Beyhan Tuysuz; Matthew W State; Murat Gunel
Journal:  Neurogenetics       Date:  2010-01-15       Impact factor: 2.660

2.  A neuronal VLDLR variant lacking the third complement-type repeat exhibits high capacity binding of apoE containing lipoproteins.

Authors:  Keiko Sakai; Oliver Tiebel; M Cecilia Ljungberg; Merry Sullivan; Hye-Jeong Lee; Tomoya Terashima; Rongying Li; Kunihisa Kobayashi; Hui-Chen Lu; Lawrence Chan; Kazuhiro Oka
Journal:  Brain Res       Date:  2009-04-22       Impact factor: 3.252

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

Authors:  Bassam R Ali; Jennifer L Silhavy; Matthew J Gleeson; Joseph G Gleeson; Lihadh Al-Gazali
Journal:  BMC Med Genet       Date:  2012-09-14       Impact factor: 2.103

4.  Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism.

Authors:  Uner Tan
Journal:  Open Neurol J       Date:  2010-07-16

5.  Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome.

Authors:  Liza J Shapiro; Whitney G Cole; Jesse W Young; David A Raichlen; Scott R Robinson; Karen E Adolph
Journal:  PLoS One       Date:  2014-07-16       Impact factor: 3.240

6.  Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.

Authors:  Pankaj Kumar; Mashael Al-Shafai; Wadha Ahmed Al Muftah; Nader Chalhoub; Mahmoud F Elsaid; Alice Abdel Aleem; Karsten Suhre
Journal:  BMC Res Notes       Date:  2014-10-22
  6 in total

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