Literature DB >> 4104008

Geleophysic dwarfism--a "focal" mucopolysaccharidosis?

J W Spranger, E F Gilbert, G A Tuffli, F P Rossiter, J M Opitz.   

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Year:  1971        PMID： 4104008     DOI： 10.1016/s0140-6736(71)92073-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  13 in total

1.  ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Authors:  Carine Le Goff; Fanny Morice-Picard; Nathalie Dagoneau; Lauren W Wang; Claire Perrot; Yanick J Crow; Florence Bauer; Elisabeth Flori; Catherine Prost-Squarcioni; Deborah Krakow; Gaoxiang Ge; Daniel S Greenspan; Damien Bonnet; Martine Le Merrer; Arnold Munnich; Suneel S Apte; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330

2.  Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.

Authors:  Yu Wang; Huiwen Zhang; Jun Ye; Lianshu Han; Xuefan Gu
Journal:  J Hum Genet       Date:  2014-08-21       Impact factor: 3.172

3.  Acromicric dysplasia and geleophysic dysplasia: similarities and differences.

Authors:  R C Hennekam; Y van Bever; J W Oorthuys
Journal:  Eur J Pediatr       Date:  1996-04       Impact factor: 3.183

4.  Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Authors:  Slimane Allali; Carine Le Goff; Isabelle Pressac-Diebold; Gwendoline Pfennig; Clémentine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valérie Drouin-Garraud; Elisabeth Flori; David Geneviève; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; Kay MacDermot; Sahar Mansour; André Megarbané; Heloisa G Santos; Miranda Splitt; Andrea Superti-Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valérie Cormier-Daire
Journal:  J Med Genet       Date:  2011-03-17       Impact factor: 6.318

5.  Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Authors:  Carine Le Goff; Clémentine Mahaut; Lauren W Wang; Slimane Allali; Avinash Abhyankar; Sacha Jensen; Louise Zylberberg; Gwenaelle Collod-Beroud; Damien Bonnet; Yasemin Alanay; Angela F Brady; Marie-Pierre Cordier; Koen Devriendt; David Genevieve; Pelin Özlem Simsek Kiper; Hiroshi Kitoh; Deborah Krakow; Sally Ann Lynch; Martine Le Merrer; André Mégarbane; Geert Mortier; Sylvie Odent; Michel Polak; Marianne Rohrbach; David Sillence; Irene Stolte-Dijkstra; Andrea Superti-Furga; David L Rimoin; Vicken Topouchian; Sheila Unger; Bernhard Zabel; Christine Bole-Feysot; Patrick Nitschke; Penny Handford; Jean-Laurent Casanova; Catherine Boileau; Suneel S Apte; Arnold Munnich; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2011-06-16       Impact factor: 11.025

Review 6.  Chondrodysplasias and TGFβ signaling.

Authors:  Carine Le Goff; Valerie Cormier-Daire
Journal:  Bonekey Rep       Date:  2015-03-11

7.  Chromosomal abnormalities in leiomyosarcomas.

Authors:  C Sreekantaiah; J R Davis; A A Sandberg
Journal:  Am J Pathol       Date:  1993-01       Impact factor: 4.307

8.  Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

Authors:  R A Packer; M A Logan; L T Guo; S S Apte; H Bader; D P O'Brien; G Johnson; G D Shelton
Journal:  J Vet Intern Med       Date:  2017-02-03       Impact factor: 3.333

Review 9.  Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

Authors:  Tao Wang; Yuyan Yang; Qi Dong; Huijuan Zhu; Yuehua Liu
Journal:  Mol Genet Genomic Med       Date:  2020-05-14       Impact factor: 2.183

10.  Geleophysic dysplasia associated with bilateral angle closure glaucoma.

Authors:  Murat Sinan Saricaoglu; Dilek Güven; Ahmet Karakurt; Hikmet Hasiripi
Journal:  Indian J Ophthalmol       Date:  2013-03       Impact factor: 1.848
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