Literature DB >> 12525546

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

D Ballhausen, L Bonafé, P Terhal, S L Unger, G Bellus, M Classen, B C Hamel, J Spranger, B Zabel, D H Cohn, W G Cole, J T Hecht, A Superti-Furga.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12525546      PMCID： PMC1735262          DOI： 10.1136/jmg.40.1.65

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


× No keyword cloud information.
  16 in total

1.  Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Authors:  Timo Hinrichs; Andrea Superti-Furga; Wolf-Dieter Scheiderer; Luisa Bonafé; Rolf E Brenner; Thomas Mattes
Journal:  BMC Musculoskelet Disord       Date:  2010-06-03       Impact factor: 2.362

2.  Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-.

Authors:  Ehud Ohana; Nikolay Shcheynikov; Meeyoung Park; Shmuel Muallem
Journal:  J Biol Chem       Date:  2011-12-21       Impact factor: 5.157

3.  Multiple epiphyseal dysplasia.

Authors:  Johanna Dahlqvist; Hanna Orlén; Hans Matsson; Niklas Dahl; Torsten Lönnerholm; Karl-Henrik Gustavson
Journal:  Acta Orthop       Date:  2009-12       Impact factor: 3.717

4.  Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Authors:  Sally L Cotterill; Gail C Jackson; Matthew P Leighton; Raimund Wagener; Outi Mäkitie; William G Cole; Michael D Briggs
Journal:  Hum Mutat       Date:  2005-12       Impact factor: 4.878

5.  Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Authors:  Tae-Joon Cho; Ok-Hwa Kim; Hye-Ran Lee; Sung Jin Shin; Won Joon Yoo; Woong Yang Park; Sung Sup Park; Sung Im Cho; In Ho Choi
Journal:  J Korean Med Sci       Date:  2010-06-16       Impact factor: 2.153

6.  A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Authors:  L Bonafé; J Hästbacka; A de la Chapelle; A B Campos-Xavier; C Chiesa; A Forlino; A Superti-Furga; A Rossi
Journal:  J Med Genet       Date:  2008-08-15       Impact factor: 6.318

7.  Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Authors:  Rong Chen; Lisong Shi; Jörg Hakenberg; Brian Naughton; Pamela Sklar; Jianguo Zhang; Hanlin Zhou; Lifeng Tian; Om Prakash; Mathieu Lemire; Patrick Sleiman; Wei-Yi Cheng; Wanting Chen; Hardik Shah; Yulan Shen; Menachem Fromer; Larsson Omberg; Matthew A Deardorff; Elaine Zackai; Jason R Bobe; Elissa Levin; Thomas J Hudson; Leif Groop; Jun Wang; Hakon Hakonarson; Anne Wojcicki; George A Diaz; Lisa Edelmann; Eric E Schadt; Stephen H Friend
Journal:  Nat Biotechnol       Date:  2016-04-11       Impact factor: 54.908

8.  Unilateral hyperplasia of the left posterior arch and associated vertebral schisis at C6 level.

Authors:  Giuseppe Esposito; Pasquale de Bonis; Gianpiero Tamburrini; Luca Massimi; Vadim Byvaltsev; Concezio di Rocco; Antonio Leone
Journal:  Skeletal Radiol       Date:  2009-07-25       Impact factor: 2.199

Review 9.  The SLC26 gene family of multifunctional anion exchangers.

Authors:  David B Mount; Michael F Romero
Journal:  Pflugers Arch       Date:  2003-05-21       Impact factor: 3.657

10.  SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Authors:  Helmi Härkönen; Petra Loid; Outi Mäkitie
Journal:  Genes (Basel)       Date:  2021-05-11       Impact factor: 4.096
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.