Literature DB >> 8182720

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).

P Beighton1.   

Abstract

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Year:  1994        PMID： 8182720      PMCID： PMC1049676          DOI： 10.1136/jmg.31.2.136

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


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  7 in total

1.  The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.

Authors:  M Torrington; P Beighton
Journal:  Clin Genet       Date:  1991-03       Impact factor: 4.438

Review 2.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

3.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

4.  Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.

Authors:  K Kozlowski; P Beighton
Journal:  Rofo       Date:  1984-09

5.  Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.

Authors:  P Beighton; K Kozlowski; G Gericke; G Wallis; L Grobler
Journal:  S Afr Med J       Date:  1983-11-05

6.  Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.

Authors:  P Beighton; K Kozlowski
Journal:  Skeletal Radiol       Date:  1980       Impact factor: 2.199

7.  The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.

Authors:  P Beighton; G Gericke; K Kozlowski; L Grobler
Journal:  Clin Genet       Date:  1984-10       Impact factor: 4.438
  7 in total
  7 in total

1.  A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.

Authors:  Ok-Hwa Kim; Tae-Joon Cho; Hae-Ryong Song; Chin Youb Chung; Shin-Ichiro Miyagawa; Gen Nishimura; Andrea Superti-Furga; Sheila Unger
Journal:  Skeletal Radiol       Date:  2009-03-11       Impact factor: 2.199

2.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18

3.  A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Authors:  Katta Mohan Girisha; Fanny Kortüm; Hitesh Shah; Malik Alawi; Ashwin Dalal; Gandham SriLakshmi Bhavani; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2015-12-16       Impact factor: 4.246

4.  A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

Authors:  C M Hall; N H Elçioglu; D G Shaw
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

5.  A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill
Journal:  Skeletal Radiol       Date:  2008-02-07       Impact factor: 2.199

6.  Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

Authors:  Marco Ritelli; Nicola Chiarelli; Nicoletta Zoppi; Chiara Dordoni; Stefano Quinzani; Michele Traversa; Marina Venturini; Piergiacomo Calzavara-Pinton; Marina Colombi
Journal:  Mol Genet Metab Rep       Date:  2014-11-20

7.  Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Authors:  Stefano Giuseppe Caraffi; Ilenia Maini; Ivan Ivanovski; Marzia Pollazzon; Sara Giangiobbe; Maurizia Valli; Antonio Rossi; Silvia Sassi; Silvia Faccioli; Maja Di Rocco; Cinzia Magnani; Belinda Campos-Xavier; Sheila Unger; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2019-10-12       Impact factor: 4.096
  7 in total

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