Literature DB >> 15173244

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.

M Holder-Espinasse, F Escande, E Mayrargue, A Dieux-Coeslier, D Fron, A Doual-Bisser, O Boute-Benejean, Y Robert, N Porchet, S Manouvrier-Hanu.   

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Year:  2004        PMID： 15173244      PMCID： PMC1735815          DOI： 10.1136/jmg.2003.013904

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  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 2.  TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.

Authors:  Elena Gallo MacFarlane; Julia Haupt; Harry C Dietz; Eileen M Shore
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-11-01       Impact factor: 10.005

3.  Delayed fracture healing in growth differentiation factor 5-deficient mice: a pilot study.

Authors:  Cynthia M Coleman; Brooke H Scheremeta; Amanda T Boyce; Robert L Mauck; Rocky S Tuan
Journal:  Clin Orthop Relat Res       Date:  2011-05-18       Impact factor: 4.176

4.  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

5.  Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Authors:  Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

6.  Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.

Authors:  Miroslava Brndiarova; Martin Mraz; Zuzana Kolkova; Frantisek Cisarik; Peter Banovcin
Journal:  Mol Syndromol       Date:  2021-06-16

7.  Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

Authors:  Soo Hyun Seo; Mi Jung Park; Shin-Hye Kim; Ok-Hwa Kim; Seungman Park; Sung Im Cho; Sung Sup Park; Moon-Woo Seong
Journal:  Ann Lab Med       Date:  2013-02-21       Impact factor: 3.464

8.  A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

Authors:  Sulman Basit; Syed Kamran-ul-Hassan Naqvi; Naveed Wasif; Ghazanfar Ali; Muhammad Ansar; Wasim Ahmad
Journal:  BMC Med Genet       Date:  2008-11-27       Impact factor: 2.103

9.  Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Authors:  Lemuel Racacho; Ashley M Byrnes; Heather MacDonald; Helen J Dranse; Sarah M Nikkel; Judith Allanson; Elisabeth Rosser; T Michael Underhill; Dennis E Bulman
Journal:  Eur J Hum Genet       Date:  2015-03-11       Impact factor: 4.246

10.  Joint disease-specificity at the regulatory base-pair level.

Authors:  Pushpanathan Muthuirulan; Dewei Zhao; Mariel Young; Daniel Richard; Zun Liu; Alireza Emami; Gabriela Portilla; Shayan Hosseinzadeh; Jiaxue Cao; David Maridas; Mary Sedlak; Danilo Menghini; Liangliang Cheng; Lu Li; Xinjia Ding; Yan Ding; Vicki Rosen; Ata M Kiapour; Terence D Capellini
Journal:  Nat Commun       Date:  2021-07-06       Impact factor: 14.919
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