Literature DB >> 9288091

Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

A Polinkovsky, N H Robin, J T Thomas, M Irons, A Lynn, F R Goodman, W Reardon, S G Kant, H G Brunner, I van der Burgt, D Chitayat, J McGaughran, D Donnai, F P Luyten, M L Warman.   

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Year:  1997        PMID： 9288091     DOI： 10.1038/ng0997-18

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  70 in total

1.  A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

Authors:  X Yang; C She; J Guo; A C Yu; Y Lu; X Shi; G Feng; L He
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

Review 2.  Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.

Authors:  J Spranger
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

Review 3.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

4.  Digital development and morphogenesis.

Authors:  J J Sanz-Ezquerro; C Tickle
Journal:  J Anat       Date:  2003-01       Impact factor: 2.610

5.  Nuclei pulposi formation from the embryonic notochord occurs normally in GDF-5-deficient mice.

Authors:  Jennifer A Maier; Brian D Harfe
Journal:  Spine (Phila Pa 1976)       Date:  2011-11-15       Impact factor: 3.468

Review 6.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

7.  Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'.

Authors:  Takeshi Suzuki; Zen-ichiro Honda
Journal:  Rheumatol Int       Date:  2007-06-30       Impact factor: 2.631

8.  Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Authors:  Luitgard M Graul-Neumann; Alexandra Deichsel; Ulrike Wille; Naseebullah Kakar; Randi Koll; Christian Bassir; Jamil Ahmad; Valerie Cormier-Daire; Stefan Mundlos; Christian Kubisch; Guntram Borck; Eva Klopocki; Thomas D Mueller; Sandra C Doelken; Petra Seemann
Journal:  Eur J Hum Genet       Date:  2013-10-16       Impact factor: 4.246

Review 9.  Control of BMP gene expression by long-range regulatory elements.

Authors:  Steven Pregizer; Douglas P Mortlock
Journal:  Cytokine Growth Factor Rev       Date:  2009-11-08       Impact factor: 7.638

10.  Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

Authors:  Wei Yang; Lihua Cao; Wenli Liu; Li Jiang; Miao Sun; Dai Zhang; Shusen Wang; Wilson H Y Lo; Yang Luo; Xue Zhang
Journal:  J Hum Genet       Date:  2008-02-19       Impact factor: 3.172
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